11 research outputs found
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans
- Author
- Abbasi Z
- Abdul-Hamid M Akhlil
- Abel Paul D
- Abrams Paul H
- Adab Fawzi A
- Adamson Andrew
- Adeyoju A
- Adolfson Jan
- Afzal Naveed
- Ahiaku Ernest K N
- Ahmed Munir
- Al Sudani Mohammed L
- Al-Samarraie Amir S M
- Al-Samerraie [Unknown]
- Al-Singary Waleed
- Al-Sudani [Unknown]
- Alcock Christopher
- Alexander Kimberly
- Ali Zulfiqar
- Almond David J
- Alonzi Roberto
- Aly Markus
- Amin Al Olama Ali
- Anderson John
- Andrews Henry
- Andrews Steven
- Anjum Iqbal
- Anson Ken
- Anyamene Nicola A
- Apakama Ike
- Aparcia F
- Archbold J A A
- Arndt Volker
- Ash D
- Ashford Richard F U
- Auvinen Anssi
- Azzabi A
- Badenoch David
- Bahl Amit
- Bailey Karen
- Bailey M J
- Ball Andrew J
- Banerjee G
- Barber Jim
- Barber N
- Baria [Unknown]
- Barnes Douglas G
- Barros-Silva Joao
- Barwell Julian
- Bashir J
- Basu Pradip
- Bates Christopher A
- Batra Jyotsna
- Bax N A
- Baxter-Smith D
- Bdesha Amar
- Beacock Christopher J M
- Beaney Ronald P
- Beard Ralph
- Beatty John D
- Beck Rupert
- Beese Gail
- Beesley Sharon
- Bell C Richard W
- Bellringer James
- Benlloch Garcia Sara
- Benson Richard
- Beresford [Unknown]
- Bevis Christopher R A
- Bhana Rajanee
- Bhanot S
- Bhatnagar A
- Bhatt R I
- Birch Brian
- Birtle Alison
- Bishop M
- Biyani C Shekhar
- Blacklock A R E
- Blades Rosemary
- Bliss Peter
- Bloomfield David J
- Boddy S
- Bollina Prasad
- Bonnington Sue
- Booth C M
- Bose Pradeep
- Bott Michael C
- Bottomley David
- Boucher Nigel R
- Bowen J
- Bower Mark
- Bowsher W G
- Boyd P J R
- Bradshaw Lynne
- Bramble F James
- Brenner Hermann
- Brewster Simon F
- Briggs Tim
- Brock Cathryn
- Brock Sue
- Bromage Stephen
- Broms Michael
- Brough Richard
- Brown Andrew A
- Brown Paul
- Brown Paul M
- Brown Richard
- Brown Stephen
- Browning Tony J
- Bryan N
- Burgess Neil A
- Burns-Cox Nicholas
- Butterbach Katja
- Butterworth Paul C
- Cahill D
- Callaghan P S
- Calleary John
- Calleja M
- Calman Frances
- Camilleri Philip
- Campbell Alister
- Cannon Andrea
- Cannon-Albright Lisa
- Carnell Dawn M
- Carr T W
- Carter Adam C
- Carter Charles J M
- Carter Simon
- Castle Bruce M
- Catto James
- Cavalli-Bjoerkman Carin
- Chadwick David
- Chahal Rohit
- Chakraborti P
- Chappell [Unknown]
- Charig C
- Chetiyawardana Anula D
- Chilton Christopher
- Chinegwundoh F I
- Chong Irene
- Choudhury Ananya
- Chow Wai-Man
- Christmas Timothy J
- Christova Svetlana
- Churn Mark J
- Cieza-Borrella Clara
- Clarke Noel W
- Clavijo-Eisele Jorge
- Clements Judith A
- Coe M
- Coetzee Gerhard A
- Cohen N P
- Coker C
- Cole David J
- Cole O
- Cole Trevor
- Collins Angus
- Collins Gerald
- Collinson Matthew
- Conn I
- Connell C
- Conti David V
- Cook Audrey
- Cook Margaret
- Cooke Peter
- Cooksey Graeme
- Coombs L
- Cooper Debbie
- Copland Robert F
- Cornaby Andrew J
- Cornford P A
- Corolis [Unknown]
- Corr John
- Costello C B
- Coull Mrs N
- Cowan Richard
- Cox Angela
- Cox Robert
- Coyle C
- Crew Jeremy
- Crisp John C
- Cross W
- Cruger Dorthe
- Crundwell Malcolm
- Cummings [Unknown]
- Cybulski Cezary
- Dadaev Tokhir
- Dahar Nazeer
- Daniel Francis N
- Darrad J
- Daruwala Pallon
- Das Gautam
- Datta Shibendra
- Davidson S
- Davies Joseph
- Davis Michael
- Davison Owen W
- Dawkins Guy
- Dawson Chris
- De Bolla Alan R
- Dearnaley David
- Desai Ken M
- Deutsch George P
- Dick John
- Dickinson Andrew J
- Dickson Jeanette
- Dikov Tihomir
- Dinneen Michael
- Dixit Sanjay
- Dobbs H Jane
- Doble A
- Doble Andrew
- Dodds David
- Doherty Alan
- Donaldson P
- Donovan Jenny L
- Dooldeniya M
- Douglas S Fiona
- Down Liz
- Drake [Unknown]
- Duchesne Gill M
- Duffy Peter
- Dunn Michael
- Dunsmuir W D
- Durkan Garrett
- Durrani Sajid K
- Easton Douglas
- Eaton Alan C
- Eccles Diane
- Eckert Allison
- Eddy B
- Eden C D
- Edwards J
- Eeles Rosalind A
- El-Modir A
- Elkabir Jeremy
- Elliott Emma
- Elliott P Tony
- Ellis B W
- Ellis R
- Elves Andrew W S
- Elwell Christine
- Emberton Mark
- Emmerson Louise
- England Roland C D
- Errington R D
- Evans D Gareth
- Falconer Alison
- Fawcett Derek
- Featherston C
- Featherstone Carolyn J
- Feggetter Jeremy
- Ferguson C
- Fermont D
- Ferro Michael
- Fisher Cyril
- Fitzgerald Liesel
- Fitzgerlad Liesel M
- Fletcher Matthew
- Folkes A
- Ford Trevor F
- Foster Paul W
- Franks Kevin N
- Freedman Mathew
- Frim Olivera
- Gale Joanna
- Gallegos Christopher
- Gelister James S
- George Anne
- Ghana [Unknown]
- Gibbs Stephanie
- Gilbert Hugh
- Giles Graham G
- Gillatt David
- Glaholm John
- Glass Jonathan M
- Glenister James
- Goode Thomas D
- Gordon E M
- Govindasami Koveela
- Gower Richard L
- Graham John
- Green Damian
- Greenland Jonathan
- Grieve Robert
- Griffiths Thomas R L
- Gronberg Henrik
- Gujral Sandy
- Gupta Nishi
- Gurun Riza Murat
- Gustafsson Sven
- Guy Michelle
- Guy Peter J
- Haiman Christopher A
- Haldar Neil
- Halder N
- Haley James
- Hamdy F C
- Hamdy Freddie
- Hamilton C
- Hammonds John
- Hampson S J
- Hanbury Damien C
- Hardman P D John
- Harland Stephen J
- Harney John M
- Harper Peter
- Harris D
- Harris Sarah
- Harrison G S M
- Harriss D R
- Harvey-Hills N
- Hawkyard Simon
- Hazel Steve
- Hazelett Dennis J
- Heath Catherine M
- Heathcote Peter
- Hehir Michael
- Hellawell Giles O
- Henderson Brian E
- Hendry David
- Henley Mike
- Henrique Rui
- Henry Ann
- Herbert Pippa
- Herkommer Kathleen
- Hetherington John
- Hickish Tamas
- Hicks James A
- Hilman Serena
- Hindley Richard
- Hindmarsh John R
- Hines John
- Hingorani M
- Ho Edwin T S
- Hodgson Shirley
- Hoffman U
- Holden David
- Holding Peter
- Hollingdale A
- Hollins Graham W
- Holmes Simon A V
- Holt Sarah
- Hopper John L
- Horan Gail
- Horwich Alan
- Hoskin Peter
- Howell Graham P
- Howson Joanne
- Hrouda D
- Huddart Robert
- Hudson Liz
- Hughes Michael
- Hughes Owen
- Hughes Rob
- Humber Caroline
- Iacovou John W
- Ibrahim A
- Inglis John A
- Irving Stuart
- Irwin C
- Iversen Peter
- Izatt Louise
- Izegbu Victor
- Jameel Basharat
- James Michael J
- James N
- James R Lester
- Javle Pradip
- Jenkins P
- Jhavar Sameer
- Johansson Jan-Erik
- Jones Chris R
- Jones David A
- Jones Gareth
- Jones Mandy
- Joseph J
- Joss Shelagh
- Jugurnauth-Little Sara
- Kachakova Darina
- Kaisary Amir
- Kaliski Alexandre L
- Kaneva Radka
- Kapur G
- Karim O
- Karlsson Ami
- Karp Stephen J
- Kedda Mary-Anne
- Keeley F X
- Kelkar Anand R
- Kelleher J P
- Kelly John
- Kenwrick Sue
- Kerr Kris
- Key Tim J
- Khan F
- Khaw Kay-Tee
- Khoo Vincent
- Kibel Adam S
- Kierzek Andrzej
- Kimber Rachel M
- Kinder R
- Kirby Roger S
- Kirk David
- Kirkbride Peter
- Kirollos Magdi M
- Klarskov Peter
- Kluzniak Wojciech
- Kockelbergh Roger
- Koenig Philip C W C
- Kooiman Gordon G
- Koreich O
- Kote-Jarai Zsofia
- Koupparis Anthony
- Kourah Mohamed
- Kraus Sigurd
- Kujala Paula
- Kujawa Magda L
- Kulkarni Ravi
- Kumar M
- Kumar Rajeev
- Kunkler Ian H
- Kynaston H
- Kynaston Howard
- Lachlan Katherine L
- Laing Robert
- Lalloo Fiona
- Lancashire M
- Lane Athene
- Langley Stephen E M
- Laniado Marc
- Larner T R
- Lau Maurice W
- Lawrence W T
- Lawson Anne
- Le Roux Pieter J
- Leader Mary
- Lee A
- Lee J O
- Lee L
- Lemburger R John
- Lennon Teresa
- Leone Priscilla
- Leongamornlert Daniel
- Lester Jason
- Leung Hing
- Lewis D Christopher
- Lewis J
- Li Qiuyan
- Lim Hui-Yi
- Lin Hui-Yi
- Liston Thomas
- Livni Naomi
- Livsey Jacqueline
- Lloyd S
- Locke Imogen
- Lodge Richard
- Logue John
- Longmuir Mark
- Lophatananon Artitaya
- Lophatonanon Artitaya
- Lubinski Jan
- Lucas Malcolm G
- Luedeke Manuel
- Luscombe C J
- Lydon Anna
- Lynch Michael
- Lynn Naing N K
- Lyons Norma
- MacDermott James P A
- Macdonagh Ruaraidh P
- Macdonald [Unknown]
- Madaan Sanjeev
- Madhava Kudingila R
- Maeaettaenen Liisa
- Maguire Joseph
- Maher E R
- Mahmood Rana
- Maia Sofia
- Maier Christiane
- Mair Graeme H M
- Malone Greg
- Malone Peter R
- Mangar Stephen A
- Mantle Mark
- Mark I
- Marsden Gemma
- Mason M D
- Mason Malcolm
- Mason Robert
- Matanhelia [Unknown]
- Matenhelia Shyam
- Matthews Philip N
- McAleese J
- McBride Donna
- Mcdonnell Shannon K
- McDonnell Shannon K
- McFarlane Jonathan
- McGrath [Unknown]
- McIlhenny Craig
- McInerney Paul
- McIntosh Gregor
- McKinna F
- McLaren Duncan
- McLarty Esther
- McMenemin Rhona
- McNeill Alan
- McNicholas T A
- Meddings Robert N
- Mee A David
- Melcher Lucinda
- Memon [Unknown]
- Menzes Pravin
- Michael Agnieszka
- Miller Marek
- Mills Robert
- Mitchell S
- Mitev Vanio
- Mithal Natasha
- Mitkova Atanaska
- Mitra Anita
- Mobb Gillian E
- Moffat Leslie E F
- Mokete [Unknown]
- Money-Kyrle Julian
- Montgomery Bruce
- Moody Hilary
- Moody Martin P
- Morgan Angela
- Morley Roland
- Morris Sean B
- Morrison Patrick
- Mort Diana
- Mostafid Amir H
- Motiwala Hanif
- Mufti Gulzar
- Muir Gordon
- Muir Kenneth
- Mumtaz Faiz
- Murphy Michael
- Murray Alexandra
- Murray Keith W
- Murrell Shirley
- Murtola Teemu
- Muthukumar D
- Naerger Harry
- Namasivayam Siva
- Nargund Vinod
- Nawrocki [Unknown]
- Neal David E
- Neilson Donald
- Nethersell A
- Newby Jacqueline C
- Newman Hugh
- Newton R
- Nielsen Sune F
- Nordestgaard Børge G
- O'Boyle P J
- O'Brien J
- O'Brien Tim S
- O'Donnell H
- O'Donoghue E
- O'Donoghue Neil
- O'Reilly P
- O'Rourke J S
- O'Sullivan Joe
- O'Sullivan Patricia
- Oakley Neil
- Ogden Chris
- Ohja Hemant
- Oliver Tim
- Omara Tracy
- Ong Eng K
- Osborn David
- Ostler Peter
- Owen J
- Palfrey Edward
- Panades Miguel
- Panakis Niki
- Pancharatnam M
- Pandha Hardev
- Pantelides Michalakis L
- Panwar U
- Parikh Omi
- Park Hyun
- Park Jong Y
- Parker Chris
- Parker Christopher H
- Parys Bohdan T
- Pascoe Sarah
- Pashayan Nora
- Patel Anup
- Paterson Joan
- Pathack S
- Pati Jhumur
- Patterson Helen
- Pattu [Unknown]
- Paul A
- Paul Alan
- Paulo Paula
- Payne Heather
- Peake David
- Pedersen John
- Pedley I
- Pengelly A
- Peracha Amjad M
- Perry Matthew
- Persad Raj
- Peters John
- Pharoah Paul
- Philp N H
- Philp T
- Pickering Lisa M
- Pigott Katharine
- Pinto Pedro
- Plail R
- Plowman P Nicholas
- Pocock Richard D
- Pope A J
- Popert Rick
- Popov Elenko
- Porter Tim
- Potter John M
- Pow-Sang Julio
- Powell Christopher
- Powell Philip
- Powles Thomas B
- Prasad Krishna
- Prasad Seshadri Sri
- Prejbisz J W
- Prescott Stephen
- Protheroe Andrew
- Qureshi Khaver N
- Raby Nigel
- Radlein Selina
- Ragavan Narasimhan
- Raju Palaniappa G S
- Ramachandra Prakash B
- Raman R
- Rane Abhay
- Rankin Julia
- Rao Y
- Ratan Hari L
- Ravi Ramachandran
- Ravishankar K
- Read [Unknown]
- Reddy Paul J
- Rimington Peter R
- Rinckleb Antje
- Rincon Maria
- Riska Shaun
- Ritchie Peter A
- Roberts J Trevor
- Robertson Andrew
- Robinson Angus
- Robinson Anne C
- Robinson Lee Q
- Rochester Mark A
- Roder Andreas
- Rogers P B
- Rosario Derek
- Rosenbaum Tomas P
- Rothwell Neil
- Rowbotham Carl
- Rowe [Unknown]
- Rowley Kathryn
- Ruddy Deborah
- Rundle John
- Russell John M
- Ryan P G
- Sabharwal A
- Saggar Anand K
- Samanci Ali
- Sangar Vijay K
- Santos Joana
- Saunders Edward J
- Saunders Pamela
- Sawyer Emma J
- Saxby M F
- Schaid Daniel J
- Schleutker Johanna
- Schumacher Fredrick
- Schwaibold Hartwig
- Scoble John E
- Scrase Christopher
- Selim [Unknown]
- Sellers Thomas
- Sells Henry
- Sethia Krishna K
- Severi Gianluca
- Shackley David C
- Shaffer [Unknown]
- Shah Nihil
- Shakespeare D
- Shanley Sue
- Sharma Neerah K
- Sheehan Denise J
- Sherwin Elizabeth
- Shum Poh Lin
- Side Lucy
- Sidek Norma
- Signorello Lisa B
- Sikora Karol
- Simcock R
- Sinclair Andrew M
- Singh Pravin
- Siva M
- Slavov Chavdar
- Smith James
- Smith Michael F
- Sokal Michael
- Sole Graham M
- Southey Melissa C
- Speakman Mark J
- Spiers Alexander
- Spurdle Amanda
- Sreenivasan Thiagarajan
- Srihari Narayanan N
- Srinivasan [Unknown]
- Sriram Rajagopalan
- Staffurth John N
- Stanford Janet L
- Stattin Paer
- Stegmaier Christa
- Stephens Sarah
- Stewart D
- Stockdale Andrew
- Stott Mark A
- Stower M J
- Strachan John R
- Stuart Nicholas S A
- Sugden Elaine
- Summerton Duncan
- Sundar Santhanam
- Sundaram S K
- Suresh Gokarakonda
- Susnerwala Shabbir
- Swami Kuchibhotla S
- Symons Stephanie J
- Syndikus Isabel
- Taari Kimmo
- Tahir Saad
- Tammela Teuvo L
- Tammela Teuvo L J
- Tanquay J
- Taylor J W
- Taylor John W
- Teixeira Manuel R
- Terry T
- Thibodeau Stephen N
- Thomas Robert J
- Thomas Stephen A
- Thompson Alan
- Thompson Pauline
- Thomson Alastair H
- Thurston A
- Tidball Sarah
- Tillmans Lori
- Tilsley Owen
- Tindall Stuart F
- Tipples K
- Tong [Unknown]
- Toussi Hamid
- Toy Elizabeth W
- Travis Ruth C
- Trembath Richard C
- Tulloch David N
- Turner Kevin J
- Turner Megan
- Tweedle James
- Tymrakiewicz Malgorzata
- Tyrell C J
- Umez-Eronini N
- Urwin Graeme H
- Vale Justin A
- Van As [Unknown]
- Van As Nicholas
- Vasanthan Subramaniam
- Vesey Sean
- Vilarino-Varela Maria
- Violet John
- Virdi Jaspal
- Viñuela Ana
- Vlahova Aleksandrina
- Vogel Walther
- Wade Robert
- Wahlfors Tiina
- Waite Katherine
- Walker E M
- Walker Roger
- Wallace David M A
- Wallinder Hans
- Wang Liang
- Watkin Nicholas A
- Watson M E
- Waxman J H
- Waymont Brian
- Weaver Andrew
- Webb Ralph J
- Wedderburn Andrew
- Weischer Maren
- Wells Paula
- Wemyss-Holden G D
- Weston P M T
- Wheatley Duncan
- Whelan P
- Whillis D
- Whitmore Ian
- Wiklund Fredrik
- Wilde Adam D
- Wiles Vicki
- Wilkins Marie
- Wilkinson Rosemary
- Williams John H
- Williams Simon
- Willis Michael
- Wills Michael I
- Wilson J R
- Wilson Richard
- Winkler Mathias H
- Wise Marcus
- Wokozorczyk Dominika
- Wokołorczyk Dominika
- Wood Glenn
- Woodhams Simon
- Woodhouse C
- Woodward Cathryn
- Woolf [Unknown]
- Woolfenden K A
- Worlding Jane
- Wright Mark
- Wu Huihai
- WYLIE [Unknown]
- Wylie James P
- Wynne Chris
- Yeadon Trina
- Zachariah Babu
- Zang Angelika
- Zarkar A
- Zheng Wei
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2015
- Field of study
Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have
fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in
25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16
regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of
correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP,
while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in
Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium
(LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region.
Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant
enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the
refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa,
an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of
PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent
signals within the same regio
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
- Author
- Abigail Hynes
- Aditya Mandal
- Adrian Barnardo
- Aftab Ala
- Agostino Colli
- Alan Shepherd
- Alan Watson
- Alastair McNair
- Alberto Mattalia
- Alexandra McKay
- Alice Wright
- Alison Brind
- Alison Loftus
- Alison Paton
- Alistair King
- Allister Grant
- Altaf Palegwala
- Amir Shah
- Amit Singhal
- Ana Lleo
- Andrea Broad
- Andrea Crosignani
- Andrea Galli
- Andrew Austin
- Andrew Bathgate
- Andrew Bell
- Andrew Burroughs
- Andrew Chilton
- Andrew Davis
- Andrew Douds
- Andrew Douglass
- Andrew Fraser
- Andrew Gibbins
- Andrew Higham
- Andrew L Mason
- Andrzej Piotrowicz
- Andy Li
- Angelo Andriulli
- Anna Fouracres
- Annarosa Floreani
- Anne Eastick
- Anton Gunasekera
- Antonio Benedetti
- Antonio Picciotto
- Aruna Dias
- Ashis Mukhopadhya
- Ashley Brown
- Asifabbas Naqvi
- Athar Saeed
- Bal Shinder
- Barbara Coco
- Barbara Foglieni
- Barbara Hoeroldt
- Becky Holbrook
- Beverley Longhurst
- Bob Grover
- Brian D. Juran
- Bridget Bird
- Bridget Gunson
- Bronwen Williams
- Bruce R Bacon
- Caradog Thomas
- Carl A. Anderson
- Carlo Ferrari
- Carly Brown
- Carmela Cursaro
- Carol Thomas
- Carole Collins
- Carole Foale
- Caroline Cowley
- Caroline Hamilton
- Caroline Lawlor
- Caroline Mulvaney-Jones
- Caroline Palmer
- Carolyn MacNicol
- Caron Innes
- Casey S. Greene
- Catherine Gray
- Catherine Vincent
- Charles Grimley
- Charles Millson
- Chin Lye Ch'ng
- Chris Evans
- Chris Ford
- Christine Dickson
- Christopher Healey
- Christopher Hovell
- Christopher I. Amos
- Christopher Macdonald
- Christopher Shallcross
- Christopher Shorrock
- Claire Duggan
- Claudio Tiribelli
- Craig Lammert
- Cristina Barlassina
- Cynthia Levy
- D Williams
- Dakai Zhu
- Daniel Forton
- Daniele Cusi
- Daniele Prati
- Darren Clement
- David C. Qian
- David Elphick
- David Gorard
- David Jones
- David Neal
- David Ramanaden
- David Tyrer
- Dawn Sirdefield
- Deb Ghosh
- Debashis Das
- Delyth Braim
- Denise Gocher
- Denise O'Donnell
- Dermot Gleeson
- Diane Simpson
- Domenico Alvaro
- Donna Cotterill
- Douglas Thorburn
- Earl Williams
- Eileen Marshall
- Eleanor Dungca
- Elizabeth J Atkinson
- Elizabeth Tanqueray
- Elva Wilhelmsen
- Emily Archer
- Emma Durant
- Emma Grieve
- Emma Gunter
- Erik M Schlicht
- Ervin Shpuza
- Estelle Nambela
- Esther Unitt
- Fabio Macaluso
- Fabio Marra
- Faiz Ali
- Federica Malinverno
- Filomena Morisco
- Fiona Gordon
- Fiona Wright
- Floriano Rosina
- Florin Muscariu
- Frances Hines
- Francesca Bernuzzi
- Gang Xie
- Gary Bray
- Gayle Clifford
- Geeta Prasad
- George Abouda
- George Bird
- George F. Mells
- George Lipscomb
- George MacFaul
- Giancarlo Spinzi
- Gianfranco Elia
- Gideon M. Hirschfield
- Gill Watts
- Giovanni Casella
- Glynis Stansfield
- Gordon Wood
- Graeme Alexander
- Graham Butcher
- Graham Foster
- Grazia A Niro
- Gregory Whatley
- Greta Van Duyvenvoorde
- Guan Lim
- Gwen Baxter
- Hannah Dewhurst
- Harriet Gordon
- Harriet Mitchison
- Heather J. Cordell
- Helen Doyle
- Helen Fairlamb
- Helen Sweeting
- Helen Wooldridge
- Hemant Gupta
- Henry C Bodenheimer Jr
- Hilary Pateman
- Howard Curtis
- Howard Klass
- Hyder Hussaini
- Hye-Jeong Lee
- Ian Drake
- Ian Gee
- Ian Gooding
- Ian Rees
- Ilaria Bianchi
- Ilaria Sogno
- Imran Patanwala
- Imroz Salam
- Isobel Amey
- Jaber Gasem
- Jacky Orpe
- Jacqueline Brighton
- James A. B. Floyd
- James Featherstone
- James Gotto
- James Neuberger
- Jane Bowles
- Jane Collier
- Jane Gitahi
- Jane Maiden
- Jane Metcalf
- Janeane Hails
- Janette Curtis
- Janie Keggans
- Janine Musselwhite
- Javaid Subhani
- Jayne Jones
- Jean Kordula
- Jeff Butterworth
- Jennie Kendall
- Jennifer Morrison
- Jeremy Shearman
- Jeremy Tibble
- Jessica Whiteman
- Jia Qu
- Jill Conder
- Jinyi Zhang
- Jo Ridpath
- Joanna Allison
- Joanna Sayer
- Jocelyn Fraser
- John Dillon
- John Mclindon
- John Ramage
- Jonathan Booth
- Jonathan Brown
- Joseph A Odin
- Joy Sadeghian
- Joy Wilkins
- Julia Maltby
- Julie Browning
- Julie Colley
- Julie Tregonning
- Juliette Verheyden
- Kapil Kapur
- Karen Hogben
- Karen Warner
- Karin Young
- Kate Martin
- Kate Ocker
- Katharine Pollock
- Katherine A. Siminovitch
- Katherine I. Morley
- Kathryn Houghton
- Katie Seward
- Katie Spurdle
- Keith Elliott
- Keith George
- Kelly Amor
- Kerenza Boulton
- Kerry Flahive
- Kevin Yoong
- Kimberley Netherton
- Kirsten Walker
- Kirsty Martin
- Konrad Koss
- Konstantinos N. Lazaridis
- LaiTing Tan
- Landon L Chan
- Leonie Grellier
- Linda Jones
- Linda Kent
- Linda March
- Lisa Morgan
- Liz Farrington
- Lizzie Stafford
- Lola Dali-kemmery
- Lorenzo Morini
- Lorraine Hankey
- Lory Saveria Crocè
- Louise Winter
- Lourdes Cumlat
- Luca Fabris
- Lucie Hobson
- Luigi Muratori
- Lyn Graves
- Lynn Currie
- Lynn O'Donohoe
- M. Eric Gershwin
- Maggie Hughes
- Mandy Carnahan
- Marco Carbone
- Marco Marzioni
- Marek Czajkowski
- Maria Consiglia Bragazzi
- Maria Francesca Donato
- Maria Hamilton
- Maria Hayes
- Maria Vinci
- Mariam Nasseri
- Marie Green
- Marie Quinn
- Marina Leoni
- Mario Strazzabosco
- Marisa Mills
- Mariza de Andrade
- Mark Ainsworth
- Mark Aldersley
- Mark Cox
- Mark Narain
- Mark Wilkinson
- Mark Wright
- Markus Gess
- Marta Spreafico
- Martin Lombard
- Martin Prince
- Martyn Carter
- Mary Crossey
- Mary Ninkovic
- Massimo Colombo
- Massimo Zuin
- Matthew Brookes
- Matthew Cowan
- Matthew Cramp
- Matthew Foxton
- Maurizia Brunetto
- Mauro Podda
- Maxton Pitcher
- Mazn Karmo
- Mcdonald Mupudzi
- Melanie Harrison
- Melanie Kent
- Mervyn Davies
- Mesbah Rahman
- Metod Oblak
- Michael F. Seldin
- Michael Heneghan
- Mike Mendall
- Minesh Patel
- Mirko Tarocchi
- Mohamed Dawwas
- Mousa Hani S
- Natalie Taylor
- Natalie Wheatley
- Neil Fisher
- Nicholas Sharer
- Nicola Lancaster
- Nikki White
- Noma Ncube
- null null
- null null
- null null
- Nurani Sivaramakrishnan
- Oza Chirag
- Paolo Muratori
- Parizade Raymode
- Patrick Goggin
- Paul Banim
- Paul Kitchen
- Paul Richardson
- Paul Southern
- Paula Townshend
- Peter Bramley
- Peter K Gregersen
- Peter Mills
- Phillipa Desousa
- Pier Maria Battezzati
- Pierluigi Toniutto
- Piero L Almasio
- Piero Portincasa
- Pietro Andreone
- Pietro Invernizzi
- Piotr Milkiewicz
- Pradeep Sanghi
- Pranab Gyawali
- PuiChing Chan
- Purushothaman Premchand
- Rachel Abrahams
- Raj Srirajaskanthan
- Ray Mathew
- Ray Shidrawi
- Rebecca Bishop
- Rebecca Casey
- Rebecca Cloudsdale
- Rebecca Jones
- Renzo Montanari
- Reuben Ayres
- Richard Aspinall
- Richard Evans
- Richard Marley
- Richard Miller
- Richard N. Sandford
- Richard Sturgess
- Robert P Myers
- Robert Przemioslo
- Roberta Lazzari
- Roger McCorry
- Roland Ede
- Roman Galaska
- Rory Harvey
- Rosanna Fontana
- Rose Damant
- Rupert Ransford
- Ruth Penn
- Saket Singhal
- Sally Batham
- Sally-Ann Rolls
- Sallyanne Pearson
- Samantha Ducker
- Sambit Sen
- Samir Vyas
- Sandra Greer
- Sanjiv Jain
- Sarah Besley
- Sarah Jones
- Sarah Thornthwaite
- Sass Levi
- Savino Bruno
- Senayon Desmennu
- Sharat Misra
- Sherill Tripoli
- Silvia Colombo
- Simon Dyer
- Simon Panter
- Simon Rushbrook
- Simon Taylor-Robinson
- Simon Whalley
- Simon Williams
- Sonia Rossi
- Sonia Tarallo
- Sophie Holder
- Stephen D Ryder
- Steve Pereira
- Steven Mann
- Stewart Campbell
- Subramaniam Ramakrishnan
- Subrata Saha
- Sue Glenn
- Sue Walsh
- Sunil Dolwani
- Susan Congreave
- Susan Gallagher
- Susan Jones
- Susan Lord
- Susan Slininger
- Sushma Saksena
- Suzie Marriott
- Syed Shaukat
- Talal Valliani
- Theodore Ngatchu
- Thiriloganathan Mathialahan
- Tim Harding
- Tobias Balschun
- Toby Delahooke
- Tom Lee
- Tom Yapp
- Tracey Shewan
- Udi Shmueli
- Valentina Liakina
- Valeria Silvestre
- Velimir A Luketic
- Victoria Lambourne
- Vincenzo O Palmieri
- Vincenzo Ronca
- Voi Shim Wong
- William Stableforth
- Yafang Li
- Yeng Ang
- Yolanda Baird
- Younghun Han
- Publication venue
- Nat Commun
- Publication date
- 01/01/2015
- Field of study
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways
- Author
- 94
- Abigail Hynes 159
- Aditya Mandal
- Adrian Barnardo 182
- Aftab Ala 138
- Agostino Colli 45
- Alan Shepherd 213
- Alan Watson 81
- Alastair McNair 175
- Alberto Mattalia 54
- Alexandra McKay 132
- Alice Wright 245
- Alison Brind 294
- Alison Loftus 91
- Alison Paton 119
- Alistair King
- Allister Grant
- Almasio 33 Piero L.
- Altaf Palegwala 98
- Amir Shah 189
- Amit Singhal
- Amos 2 Christopher I.
- Ana Lleo 12
- Anderson 8 Carl A.
- Andrea Broad 139
- Andrea Crosignani 39
- Andrew Austin 119
- Andrew Bell 305
- Andrew Burroughs 249
- Andrew Chilton 166
- Andrew Douds 243
- Andrew Gibbins 122
- Andrew Higham 293
- Andrew Bathgate
- Andrew Davis
- Andrew Douglass
- Andrew Fraser
- Andrzej Piotrowicz
- Andy Li 303
- Angelo Andriulli 37
- Anna Fouracres 247
- Annarosa Floreani 51
- Anne Eastick
- Anton Gunasekera
- Antonio Benedetti 40
- Antonio Picciotto 59
- Aruna Dias 82
- Ashis Mukhopadhya
- Ashley Brown
- Asifabbas Naqvi
- Athar Saeed 139
- Atkinson 19 Elizabeth J.
- Bacon 28 Bruce R.
- Bal Shinder 258
- Barbara Coco 43
- Barbara Foglieni 11
- Barbara Hoeroldt 244
- Becky Holbrook 222
- Beverley Longhurst 240
- Bob Grover 151
- Bodenheimer Jr 29 Henry C.
- Bridget Bird 191
- Bridget Gunson 287
- Bronwen Williams
- Caradog Thomas
- Carlo Ferrari 49
- Carly Brown 270
- Carmela Cursaro 36
- Carol Thomas 156
- Carole Collins 300
- Carole Foale 138
- Caroline Cowley 182
- Caroline Mulvaney Jones
- Caroline Hamilton
- Caroline Lawlor
- Caroline Palmer
- Carolyn MacNicol 163
- Caron Innes
- Catherine Vincent 31
- Catherine Gray
- Chan 19 Landon L.
- Charles Grimley
- Charles Millson
- Chin Lye Ch’
- Chris Evans 190
- Chris Ford
- Christine Dickson 239
- Christopher Healey 71
- Christopher Hovell 122
- Christopher Shorrock 90
- Christopher Shallcross
- Claire Duggan 159
- Claudio Tiribelli 48
- Cordell Heather J.
- Craig Lammert 7
- Cristina Barlassina 38
- Cynthia Levy 32
- Dakai Zhu 2
- Daniel Forton 275
- Daniele Prati 11
- Daniele Cusi
- Darren Clement 294
- David Elphick 106
- David Jones 188
- David Ramanaden 86
- David Tyrer 252
- David Gorard
- David Neal
- Dawn Sirdefield
- Deb Ghosh
- Debasish Das 166
- Delyth Braim
- Denise Gocher 289
- Denise O’
- Dermot Gleeson
- Diane Simpson 239
- Domenico Alvaro 35
- Donna Cotterill 305
- Douglas Thorburn 249
- Earl Williams 246
- Eileen Marshall 249
- Eleanor Dungca 107
- Elizabeth Tanqueray 221
- Elva Wilhelmsen 165
- Emily Archer 271
- Emma Grieve 196
- Emma Gunter 246
- Emma Durant
- Eric Gershwin 15 M.
- Ervin Shpuza
- Estelle Nambela
- Esther Unitt 289
- Fabio Macaluso 34
- Faiz Ali 156
- Federica Malinverno 46
- Filomena Morisco 57
- Fiona Gordon 288
- Fiona Wright 189
- Floriano Rosina 60
- Florin Muscariu
- Floyd James A. B.
- Frances Hines
- Francesca Bernuzzi 41
- Galli Andrea
- Gang Xie
- Gary Bray 272
- Gayle Clifford 270
- Geeta Prasad 285
- George Lipscomb 91
- George MacFaul 187
- George Abouda
- George Bird
- Giancarlo Spinzi 61
- Gianfranco Elia 49
- Gill Watts 285
- Giovanni Casella 44
- Glynis Stansfield 163
- Gordon Wood 140
- Graeme Alexander 101
- Graham Foster 80
- Graham Butcher
- Greene Casey S.
- Gregersen Peter K.
- Gregory Whatley 280
- Greta Van Duyvenvoorde 90
- Guan Lim 135
- Gwen Baxter 191
- Hannah Dewhurst 246
- Harriet Gordon 145
- Harriet Mitchison 107
- Helen Doyle 109
- Helen Wooldridge 117
- Helen Fairlamb
- Helen Sweeting
- Hemant Gupta
- Hilary Pateman
- Hirschfield Gideon M.
- Howard Curtis
- Howard Klass
- Hyder Hussaini 247
- Hye Jeong Lee 167
- Ian Gooding 108
- Ian Rees 157
- Ian Drake
- Ian Gee
- Ilaria Bianchi 41
- Ilaria Sogno 41
- Imran Patanwala 252
- Imroz Salam 158
- Isobel Amey 304
- Jaber Gasem 87
- Jacky Orpe 256
- Jacqueline Brighton 138
- James Featherstone 147
- James Gotto 314
- James Neuberger 287
- Jane Bowles 318
- Jane Collier 231
- Jane Gitahi 288
- Jane Maiden 98
- Jane Metcalf
- Janeane Hails 101
- Janette Curtis 278
- Janie Keggans 191
- Janine Musselwhite
- Javaid Subhani 83
- Jayne Jones 260
- Jean Kordula
- Jeff Butterworth
- Jennie Kendall
- Jennifer Morrison 222
- Jeremy Shearman 271
- Jeremy Tibble 93
- Jessica Whiteman
- Jia Qu 25
- Jill Conder 293
- Jinyi Zhang 23
- Jo Ridpath 147
- Joanna Allison
- Joanna Sayer
- Jocelyn Fraser 304
- John Dillon 214
- John Ramage 146
- John Mclindon
- Jonathan Booth 245
- Jonathan Brown
- Joy Sadeghian 153
- Joy Wilkins 164
- Julia Maltby 253
- Julie Colley 258
- Julie Browning
- Julie Tregonning
- Juliette Verheyden
- Juran 7 Brian D.
- Kapil Kapur 79
- Karen Hogben 122
- Karen Warner
- Karin Young 196
- Kate Martin 252
- Kate Ocker 199
- Katharine Pollock
- Kathryn Houghton 188
- Katie Seward 92
- Katie Spurdle
- Keith Elliott 79
- Keith George 265
- Kelly Amor 255
- Kerenza Boulton 265
- Kerry Flahive 140
- Kevin Yoong 183
- Kimberley Netherton 283
- Kirsten Walker
- Kirsty Martin
- Konrad Koss 126
- LaiTing Tan 135
- Lazaridis 7 Konstantinos N.
- Leonie Grellier 164
- Linda Jones 245
- Linda March 238
- Linda Kent
- Lisa Morgan 302
- Liz Farrington 247
- Lizzie Stafford 231
- Lola Dali kemmery 253
- Lorenzo Morini 56
- Lorraine Hankey 122
- Lory Saveria Croce ` 48
- Louise Winter 312
- Lourdes Cumlat 306
- Luca Fabris 50
- Lucie Hobson
- Luigi Muratori 36
- Luketic 27 Velimir A.
- Lyn Graves 247
- Lynn Currie
- Lynn O’
- Maggie Hughes
- Mandy Carnahan
- Marco Carbone 101
- Marco Marzioni 40
- Marek Czajkowski
- Maria Consiglia Bragazzi 42
- Maria Francesca Donato 46
- Maria Hayes 240
- Maria Vinci 65
- Maria Hamilton
- Mariam Nasseri 151
- Marie Green 254
- Marie Quinn 303
- Marina Leoni 249
- Mario Strazzabosco
- Marisa Mills 260
- Mariza de Andrade 19
- Mark Ainsworth 231
- Mark Cox 295
- Mark Narain 159
- Mark Wright 286
- Mark Aldersley
- Mark Wilkinson
- Markus Gess 170
- Marra Fabio
- Marta Spreafico 11
- Martin Lombard 252
- Martin Prince 104
- Martyn Carter
- Mary Crossey
- Mary Ninkovic
- Mason 21 Andrew L.
- Massimo Colombo 46
- Massimo Zuin
- Matthew Brookes 254
- Matthew Cowan 279
- Matthew Cramp 238
- Matthew Foxton 105
- Maurizia Brunetto 43
- Mauro Podda 41
- Maxton Pitcher
- Mazn Karmo 109
- Mcdonald Mupudzi 286
- Melanie Harrison 70
- Melanie Kent
- Mells George F.
- Mervyn Davies
- Mesbah Rahman 68
- Metod Oblak 300
- Michael Heneghan 167
- Mike Mendall
- Minesh Patel
- Mohamed Dawwas 101
- Morley Katherine I.
- Mousa Hani S. 41
- Myers 22 Robert P.
- Natalie Taylor 265
- Natalie Wheatley 108
- Neil Fisher 123
- Nicholas Sharer 239
- Nicola Lancaster
- Nikki White
- Niro 37 Grazia A.
- Noma Ncube
- Nurani Sivaramakrishnan 186
- Odin 26 Joseph A.
- Oza Chirag
- Palmieri 58 Vincenzo O.
- Paolo Muratori 36
- Parizade Raymode 166
- Patrick Goggin 240
- Paul Banim 165
- Paul Kitchen 182
- Paul Richardson 252
- Paul Southern 92
- Paula Townshend
- Peter Bramley
- Peter Mills
- Phillipa Desousa
- Pier Maria Battezzati 39
- Pierluigi Toniutto 64
- Piero Portincasa 58
- Pietro Andreone 36
- Pietro Invernizzi
- Piotr Milkiewicz 24
- Pradeep Sanghi
- Pranab Gyawali 77
- PuiChing Chan 296
- Purushothaman Premchand 78
- Qian 2 David C.
- Rachel Abrahams 117
- Raj Srirajaskanthan 176
- Ray Shidrawi 153
- Ray Mathew
- Rebecca Bishop
- Rebecca Casey
- Rebecca Cloudsdale
- Rebecca Jones
- Renzo Montanari 55
- Reuben Ayres 248
- Richard Aspinall 240
- Richard Evans 88
- Richard Marley 80
- Richard Miller 183
- Richard Sturgess 70
- Robert Przemioslo 216 Christopher Macdonald
- Roberta Lazzari 51
- Roger McCorry 85
- Roland Ede
- Roman Galaska 71
- Rory Harvey 84
- Rosanna Fontana 37
- Rose Damant 98
- Rupert Ransford 313
- Ruth Penn
- Ryder Stephen D.
- Saket Singhal 258
- Sally Ann Rolls 156
- Sally Batham
- Sallyanne Pearson 244
- Samantha Ducker 188
- Sambit Sen 179
- Samir Vyas 257
- Sandford Richard N.
- Sandra Greer 312
- Sanjiv Jain 283
- Sarah Jones 159
- Sarah Besley
- Sarah Thornthwaite
- Sass Levi
- Savino Bruno 41
- Schlicht 7 Erik M.
- Seldin 15 Michael F.
- Senayon Desmennu
- Sharat Misra
- Sherill Tripoli
- Silvia Colombo 47
- Siminovitch Katherine A.
- Simon Panter 270
- Simon Rushbrook 215
- Simon Taylor Robinson 162
- Simon Williams 163
- Simon Dyer
- Simon Whalley
- Sonia Rossi 41
- Sonia Tarallo 60
- Sophie Holder
- Steve Pereira 284
- Steven Mann
- Stewart Campbell
- Subramaniam Ramakrishnan 296
- Subrata Saha 191
- Sue Glenn 106
- Sue Walsh 280
- Sunil Dolwani
- Susan Gallagher 294
- Susan Lord 118
- Susan Congreave
- Susan Jones
- Susan Slininger
- Sushma Saksena
- Suzie Marriott 248
- Syed Shaukat 152
- Talal Valliani 216
- Tarocchi Mirko
- Theodore Ngatchu
- Thiriloganathan Mathialahan 89
- Tim Harding
- Tobias Balschun 20
- Toby Delahooke
- Tom Yapp 69
- Tom Lee
- Tracey Shewan 279
- Udi Shmueli 221
- Valentina Liakina 30
- Valeria Silvestre 105
- Victoria Lambourne 253
- Vincenzo Ronca 41
- Voi Shim Wong 306
- William Stableforth 247
- Williams 197 D.
- Yafang Li
- Yeng Ang 312
- Yolanda Baird 304
- Younghun Han
- Publication venue
- Publication date
- 01/01/2015
- Field of study
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
- Author
- Ballinger Mandy L
- Brunet Joan
- Campbell Ainsley
- Carroll Courtney
- Cops Elisa
- Feliubadaló Lidia
- Feng Bing-Jian
- Field Mike
- Fortuno Cristina
- Goldgar David
- Harris Marion
- Iglesias Silvia
- Innella Giovanni
- James Paul A
- Kirk Judy
- Kohlmann Wendy
- Lázaro Conxi
- Menéndez Mireia
- Pachter Nicholas
- Poplawski Nicola
- Spurdle Amanda B
- Susman Rachel
- Teulé Alex
- Thomas David M
- Tucker Kathy
- Wallis Mathew
- Williams Rachel
- Publication venue
- Publication date
- 01/01/2024
- Field of study
Purpose: Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant in the TP53 gene is essential to determine the most effective clinical management strategies. These figures also permit optimal use of cosegregation data for classification of TP53 variants of unknown significance. Penetrance estimation can easily be affected by bias from ascertainment criteria, an issue not commonly addressed by previous studies. Materials and methods: We performed a maximum likelihood penetrance estimation using full pedigree data from a multicenter study of 146 TP53-positive families, incorporating adjustment for the effect of ascertainment and population-specific background cancer risks. The analysis included pedigrees from Australia, Spain, and United States, with phenotypic information for 4,028 individuals. Results: Core Li-Fraumeni syndrome (LFS) cancers (breast cancer, adrenocortical carcinoma, brain cancer, osteosarcoma, and soft tissue sarcoma) had the highest hazard ratios of all cancers analyzed in this study. The analysis also detected a significantly increased lifetime risk for a range of cancers not previously formally associated with TP53 pathogenic variant status, including colorectal, gastric, lung, pancreatic, and ovarian cancers. The cumulative risk of any cancer type by age 50 years was 92.4% (95% CI, 82.2 to 98.3) for females and 59.7% (95% CI, 39.9 to 81.3) for males. Females had a 63.3% (95% CI, 35.6 to 90.1) cumulative risk of developing breast cancer by age 50 years. Conclusion: The results from maximum likelihood analysis confirm the known high lifetime risk for the core LFS-associated cancer types providing new risk estimates and indicate significantly increased lifetime risks for several additional cancer types. Accurate cancer risk estimates will help refine clinical recommendations for TP53 pathogenic variant carriers and improve TP53 variant classification
Homologous recombination DNA repair defects in PALB2-associated breast cancers
- Author
- Aghmesheh M. (Morteza)
- Amor D. (David)
- Andrews L. (Leslie)
- Antill Y. (Yoland)
- Balleine R. (Rosemary)
- Beesley J. (Jonathan)
- Bi R. (Rui)
- Blackburn A. (Anneke)
- Blecua P. (Pedro)
- Bogwitz M. (Michael)
- Boonen S. E. (Susanne E.)
- Brown D. N. (David N.)
- Brown M. (Melissa)
- Burgess M. (Matthew)
- Burke J. (Jo)
- Butow P. (Phyllis)
- Caldon L. (Liz)
- Campbell I. (Ian)
- Cavallone L. (Luca)
- Christian A. (Alice)
- Clarke C. (Christine)
- Cohen P. (Paul)
- Crook A. (Ashley)
- Cui J. (James)
- Cummings M. (Margaret)
- Dawson S.-J. (Sarah-Jane)
- De Fazio A. (Anna)
- Delatycki M. (Martin)
- Dobrovic A. (Alex)
- Dudding T. (Tracy)
- Duijf P. (Pascal)
- Edkins E. (Edward)
- Edwards S. (Stacey)
- Farshid G. (Gelareh)
- Fellows A. (Andrew)
- Field M. (Michael)
- Flanagan J. (James)
- Fong P. (Peter)
- Forbes J. (John)
- Forrest L. (Laura)
- Foulkes W. D. (William D.)
- Fox S. (Stephen)
- French J. (Juliet)
- Friedlander M. (Michael)
- Gattas M. (Michael)
- Geyer F. C. (Felipe C.)
- Giles G. (Graham)
- Gill G. (Grantley)
- Gleeson M. (Margaret)
- Greening S. (Sian)
- Gularte-Merida R. (Rodrigo)
- Haan E. (Eric)
- Harris M. (Marion)
- Hayward N. (Nick)
- Hickie I. (Ian)
- Hopper J. (John)
- Hunt C. (Clare)
- James P. (Paul)
- Janatova M. (Marketa)
- Jenkins M. (Mark)
- Kefford R. (Rick)
- Kentwell M. (Maira)
- Kirk J. (Judy)
- Kollias J. (James)
- Kumar R. (Rahul)
- Lakhani S. (Sunil)
- Lee J. Y. (Ju Youn)
- Lee S. S. (Simon S. K.)
- Li A. (Anqi)
- Lindeman G. (Geoff)
- Lipton L. (Lara)
- Lobb L. (Lizz)
- Lok S. (Sheau)
- Looi L.-M. (Lai-Meng)
- Lozada J. R. (John R.)
- Macrea F. (Finlay)
- Mane G. (Graham)
- Mannerma A. (Arto)
- Marsh D. (Deb)
- Mclachlan S.-A. (Sue-Anne)
- Meiser B. (Bettina)
- Milne R. (Roger)
- Ng P.-S. (Pei-Sze)
- Nguyen-Dumont T. (Tu)
- Nightingale S. (Sophie)
- Norton L. (Larry)
- O'Connell S. (Shona)
- Ortega D. G. (David Gallego)
- Pachter N. (Nick)
- Pareja F. (Fresia)
- Patterson B. (Briony)
- Peterlongo P. (Paolo)
- Phillips K. (Kelly)
- Piscuoglio S. (Salvatore)
- Rajadurai P. (Pathmanathan)
- Reis-Filho J. S. (Jorge S.)
- Rezoug Z. (Zoulikha)
- Rivera B. (Barbara)
- Robson M. E. (Mark E.)
- Ronlund K. (Karina)
- Saleh M. (Mona)
- Salisbury E. (Elizabeth)
- Saunders C. (Christobel)
- Saunus J. (Jodi)
- Scott C. (Clare)
- Scott R. (Rodney)
- Selenica P. (Pier)
- Sexton A. (Adrienne)
- Shelling A. (Andrew)
- Simpson P. (Peter)
- Soo-Hwang T. (Teo)
- Southey M. C. (Melissa C.)
- Spigelman A. (Allan)
- Spurdle M. (Mandy)
- Stone J. (Jennifer)
- Taylor J. (Jessica)
- Terkelsen T. (Thorkild)
- Thorne H. (Heather)
- Tischkowitz M. (Marc)
- Tondini C. (Carlo)
- Trainer A. (Alison)
- Trench G. (Georgia)
- Tucker K. (Kathy)
- Visvader J. (Jane)
- Walker L. (Logan)
- Wallis M. (Mathew)
- Weigelt B. (Britta)
- Wen H. Y. (Hannah Y.)
- Williams R. (Rachael)
- Winqvist R. (Robert)
- Winship I. (Ingrid)
- Wu K. (Kathy)
- Xia B. (Bing)
- Young M. A. (Mary Anne)
- Publication venue
- Springer Nature
- Publication date
- 01/01/2019
- Field of study
Abstract
Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk of breast cancer development, consistent with the role of PALB2 in homologous recombination (HR) DNA repair. Here, we sought to define the repertoire of somatic genetic alterations in PALB2-associated breast cancers (BCs), and whether PALB2-associated BCs display bi-allelic inactivation of PALB2 and/or genomic features of HR-deficiency (HRD). Twenty-four breast cancer patients with pathogenic PALB2 germline mutations were analyzed by whole-exome sequencing (WES, n = 16) or targeted capture massively parallel sequencing (410 cancer genes, n = 8). Somatic genetic alterations, loss of heterozygosity (LOH) of the PALB2 wild-type allele, large-scale state transitions (LSTs) and mutational signatures were defined. PALB2-associated BCs were found to be heterogeneous at the genetic level, with PIK3CA (29%), PALB2 (21%), TP53 (21%), and NOTCH3 (17%) being the genes most frequently affected by somatic mutations. Bi-allelic PALB2 inactivation was found in 16 of the 24 cases (67%), either through LOH (n = 11) or second somatic mutations (n = 5) of the wild-type allele. High LST scores were found in all 12 PALB2-associated BCs with bi-allelic PALB2 inactivation sequenced by WES, of which eight displayed the HRD-related mutational signature 3. In addition, bi-allelic inactivation of PALB2 was significantly associated with high LST scores. Our findings suggest that the identification of bi-allelic PALB2 inactivation in PALB2-associated BCs is required for the personalization of HR-directed therapies, such as platinum salts and/or PARP inhibitors, as the vast majority of PALB2-associated BCs without PALB2 bi-allelic inactivation lack genomic features of HRD
Polygenic risk scores for prediction of breast cancer and breast cancer subtypes
- Author
- Adank M. A. (Muriel A.)
- Aghmesheh M. (Morteza)
- Ahearn T. (Thomas)
- Aittomaki K. (Kristiina)
- Allen J. (Jamie)
- Alnaes G. I. (Grethe I. Grenaker)
- Amor D. (David)
- Andrews L. (Leslie)
- Andrulis I. L. (Irene L.)
- Antill Y. (Yoland)
- Anton-Culver H. (Hoda)
- Antonenkova N. N. (Natalia N.)
- Antoniou A. C. (Antonis C.)
- Arndt V. (Volker)
- Aronson K. J. (Kristan J.)
- Auer P. L. (Paul L.)
- Auvinen P. (Paivi)
- Balleine R. (Rosemary)
- Balleine R.-M. (Rose-Mary)
- Barrdahl M. (Myrto)
- Baxter R. (Robert)
- Beckmann M. W. (Matthias W.)
- Beesley J. (Jonathan)
- Behrens S. (Sabine)
- Benitez J. (Javier)
- Bermisheva M. (Marina)
- Bernstein L. (Leslie)
- Blackburn A. (Anneke)
- Blomqvist C. (Carl)
- Bogdanova N. V. (Natalia, V)
- Bogwitz M. (Michael)
- Bojesen S. E. (Stig E.)
- Bolla M. K. (Manjeet K.)
- Bonanni B. (Bernardo)
- Borresen-Dale A.-L. (Anne-Lise)
- Brauch H. (Hiltrud)
- Braye S. (Stephen)
- Bremer M. (Michael)
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- van Veen E. M. (Elke M.)
- Vijai J. (Joseph)
- Visvader J. (Jane)
- Walker L. (Logan)
- Wallis M. (Mathew)
- Wang Q. (Qin)
- Weinberg C. R. (Clarice R.)
- Wendt C. (Camilla)
- Whittemore A. S. (Alice S.)
- Wilcken N. (Nicholas)
- Wildiers H. (Hans)
- Willett W. (Walter)
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- Winqvist R. (Robert)
- Winship I. (Ingrid)
- Wolk A. (Alicja)
- Wu K. (Kathy)
- Yang X. (Xin)
- Yang X. R. (Xiaohong R.)
- Yannoukakos D. (Drakoulis)
- Yip D. (Desmond)
- Young M. A. (Mary Anne)
- Zeps N. (Nikolajs)
- Zhang Y. (Yan)
- Zheng W. (Wei)
- Ziogas A. (Argyrios)
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
Abstract
Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57–1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628–0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
- Author
- Abrams Paul H
- Adamson Andrew
- Adeyoju A
- Afzal N
- Ahiaku Ernest K. N
- Ahmed Munir
- Aitken Joanne
- Al Olama Ali Amin
- Al-Samerraie Dr
- Alcock Christopher
- Anderson John
- Andrews Henry
- Andrews Steven
- Anjum Iqbal
- Anson Ken
- Apakama Ike
- Aparcia F
- Archbold J. A. A
- Ardern-Jones Audrey T
- Arrand John
- Ash D
- Ashford Richard F. U
- Auvinen Anssi
- Badenoch David
- Bagnato Melisa
- Bahl Amit
- Bailey Karen
- Bailey M. J
- Ball Andrew J
- Bancroft E
- Banerjee G
- Banks Annette
- Barber Jim
- Barber N
- Baria Dr
- Barnes Douglas G
- Barrett Sandra
- Barwell Julian
- Basu Pradip
- Bates Christopher A
- Batra Jyotsna
- Bax N. A
- Baxter-Smith D
- Beacock Christopher
- Beaney Ronald P
- Beard Ralph
- Beck Rupert
- Beese Gail
- Beesley Sharon
- Belcheva Olga
- Bellringer James
- Benson Richard
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- Biedermann Cédric
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- Birtle Alison
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- O'Reilly P
- O'Rourke J. S
- O'Sullivan Joe
- Oakley Neil
- Ogden Chris
- Ohja Hemant
- Oliver Tim
- Osborn David
- Ostler Peter
- Ostrander Elaine A
- Page Elizabeth C
- Paiss Thomas
- Pakkanen Sanna
- Palfrey Edward
- Panades Miguel
- Pancharatnam M
- Pantelides Michalakis L
- Parikh Omi
- Park Hyun Y
- Park Jong Y
- Parker Christopher C
- Parker Christopher H
- Parys Bohdan T
- Pascoe Sarah
- Patel Anup
- Patterson Briony
- Patterson Helen
- Payne Heather
- Peake David
- Pedersen John
- Pedley I
- Pengelly A
- Peracha A. M
- Perry Matthew
- Persad Raj
- Peter Hans-Ulrich
- Philp N. H
- Philp T
- Pigott Katharine
- Plail R
- Plowman P. Nicholas
- Pocock Richard D
- Polanowski Andrea
- Pope A. J
- Popert Rick
- Popov Elenko
- Porter Tim
- Pow-Sang Julio
- Powell Christopher
- Powell Philip
- Prasad Krishna
- Prejbisz J. W
- Prescott Stephen
- Protheroe Andrew
- Qureshi Khaver N
- Radein Selina
- Ragavan Narasimhan
- Rankin Julia
- Rao Y
- Ravi Ramachandran
- Ray Anna M
- Read Graham
- Rebbeck Timothy R
- Reddy Paul J
- Rimington Peter R
- Rincon Maria
- Roberts J. Trevor
- Robertson Andrew
- Robinson Angus
- Robinson Anne C
- Robinson Lee Q
- Rogers P. B
- Rowbotham Carl
- Rowe Edward
- Rowley Kathryn
- Rundle John
- Russell John M
- Ryan P. G
- Saggar Anand K
- Samanci Ali
- Saunders Edward J
- Sawyer Emma J
- Saxby M. F
- Schaid Daniel
- Schleutker Johanna
- Schwaibold Hartwig
- Scoble John E
- Scrase Christopher
- Sellers Thomas A
- Sells Henry
- Serth Jürgen
- Sethia Krishna K
- Severi Gianluca
- Shah Nihil
- Shahabi Ahva
- Shanley Sue
- Sharma Neerah K
- Sheehan Denise J
- Sherwin Elizabeth
- Shum L
- Siltanen Sanna
- Simcock R
- Singh Pravin
- Siva M
- Slavov Chavdar
- Smark Heidi
- Smith Charmaine
- Smith James
- Smith Michael F
- Sokal Michael
- Sole Graham M
- Southey Melissa C
- Spangler Elaine
- Speakman Mark J
- Spurdle Amanda
- Sreenivasan Thiagarajan
- Srihari Narayanan N
- Srinivasan Mr
- Sriram Rajagopalan
- Stalder Michèle
- Stanford Janet L
- Stankovich James
- Stefflova Klara
- Stenman Ulf-Håkan
- Stern Mariana C
- Stewart D
- Stockdale Andrew
- Stott Mark A
- Stower M. J
- Strachan John R
- Subramonian K
- Sugden Elaine
- Sundar Santhanam
- Sundaram S. K
- Suresh Gokarakonda
- Surowy Harald
- Susnerwala Shabbir
- Swami Kuchibhotla S
- Syndikus Isabel
- Tahir Saad
- Tammela Teuvo L
- Taylor John W
- Terry T
- Thibodeau Stephen N
- Thomas Robert J
- Thomas Stephen A
- Thompson Alan
- Thompson Pauline
- Thomson Alastair H
- Thomson Russell
- Thurston A
- Tilsley Owen
- Tindall Stuart F
- Tong Dr
- Trembath Richard C
- Tulloch David N
- Tweedle James
- Tymrakiewicz Malgorzata
- Tyrell C. J
- Urwin Graeme H
- Van As Nicholas
- VandenBergh Patrica
- Vesey Sean
- Violet John
- Virdi Jaspal
- Vlahova Aleksandrina
- Vogel Walther
- von Klot Christoph
- Wahlfors Tiina
- Waite Katherine
- Walker Amy
- Walker E. M
- Walker Roger
- Wallace David M. A
- Wang Liang
- Watkin Nicholas A
- Watson M. E
- Waxman J. H
- Waymont Brian
- Weaver Andrew
- Webb Ralph J
- Weber Bärbel
- Wedderburn Andrew
- Wells Paula
- Wemyss-Holden G. D
- Weston P. M. T
- Wheatley Duncan
- Whelan P
- Whillis D
- Wiest Irina
- Wiles Vicki
- Wilkins Marie
- Wilkinson Rosemary A
- Williams John H
- Williams Simon
- Willis Michael
- Wilson J. R
- Wilson Richard
- Wise Marcus
- Woodhams Simon
- Woodhouse Christopher J
- Woolfenden K. A
- Worlding Jane
- Wright Mark
- Wylie James P
- Wynne Chris
- Xu Dan-Feng
- Xu Xing-Xing
- Yaxley John
- Zachariah Babu
- Zakariah Babu
- Zang Angelika
- Zeegers Maurice
- Zeigler-Johnson Charnita
- Zhang Hong-Wei
- Zuhlke Kimberly A
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2009
- Field of study
Prostate cancer (PrCa) is the most frequently diagnosed male cancer in developed countries. To identify common PrCa susceptibility alleles, we have previously conducted a genome-wide association study in which 541, 129 SNPs were genotyped in 1,854 PrCa cases with clinically detected disease and 1,894 controls. We have now evaluated promising associations in a second stage, in which we genotyped 43,671 SNPs in 3,650 PrCa cases and 3,940 controls, and a third stage, involving an additional 16,229 cases and 14,821 controls from 21 studies. In addition to previously identified loci, we identified a further seven new prostate cancer susceptibility loci on chromosomes 2, 4, 8, 11, and 22 (P=1.6×10−8 to P=2.7×10−33)
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
- Author
- A Niro Grazia
- A Siminovitch Katherine
- Abe Masanori
- Abiru Seigo
- Abouda George
- Abrahams Rachel
- Affronti Andrea
- Aiba Yoshihiro
- Ainsworth Mark
- Ala Aftab
- Aldersley Mark
- Alexander Graeme
- Ali Faiz
- Allison Joanna
- Alvaro Domenico
- Amey Isobel
- Amor Kelly
- Amos Chris
- Andreone Pietro
- Andriulli Angelo
- Ang Yeng
- Arai Kuniaki
- Archer Emily
- Arinaga-Hino Teruko
- Ario Keisuke
- Aspinall Richard
- Asselta Rosanna
- Atkinson Elizabeth
- Austin Andrew
- Ayres Reuben
- Azzaroli Francesco
- Baird Yolanda
- Banim Paul
- Barisani Donatella
- Barnardo Adrian
- Batham Sally
- Bathgate Andrew
- Baxter Gwen
- Bell Andrew
- Benedetti Antonio
- Besley Sarah
- Bird Bridget
- Bird George
- Bishop Rebecca
- Booth Jonathan
- Boulton Kerenza
- Bowles Jane
- Bragazzi MariaConsiglia
- Braim Delyth
- Bramley Peter
- Bray Gary
- Brighton Jacqueline
- Brind Alison
- Broad Andrea
- Brookes Matthew
- Brown Ashley
- Brown Carly
- Brown Jonathan
- Browning Julie
- Brunetto Maurizia
- Bruno Savino
- Burroughs Andrew
- Butcher Graham
- Butterworth Jeff
- Calvaruso Vincenza
- Campbell Stewart
- Carbone Marco
- Cardamone Giulia
- Cardinale Vincenzo
- Carnahan Mandy
- Carter Martyn
- Casella Giovanni
- Casey Rebecca
- Cazzagon Nora
- Chan PuiChing
- Chayama Kazuaki
- Chilton Andrew
- Chirag Oza
- Ciaccio Antonio
- Clement Darren
- Clifford Gayle
- Cloudsdale Rebecca
- Coco Barbara
- Colley Julie
- Colli Agostino
- Collier Jane
- Collins Carole
- Colloredo Guido
- Colombo Massimo
- Colombo Silvia
- Conder Jill
- Congreave Susan
- Consortium Uk-Pbc
- Cotterill Donna
- Cowan Matthew
- Cowley Caroline
- Cox Mark
- Cramp Matthew
- Cristoferi Laura
- Crosignani Andrea
- Crossey Mary
- Cumlat Lourdes
- Currie Lynn
- Cursaro Carmela
- Curtis Howard
- Curtis Janette
- Czajkowski Marek
- D Ryder Stephen
- D'Amato Daphne
- Dali-Kemmery Lola
- Damant Rose
- Das Debasish
- Davies Mervyn
- Davis Andrew
- Dawwas Mohamed
- Delahooke Toby
- Desmennu Senayon
- Desousa Phillipa
- Dewhurst Hannah
- Dias Aruna
- Dickson Christine
- Dillon John
- Dolwani Sunil
- Donato Francesca
- Douds Andrew
- Douglass Andrew
- Doyle Helen
- Drake Ian
- Ducker Samantha
- Duga Stefano
- Duggan Claire
- Dungca Eleanor
- Durant Emma
- Dyer Simon
- E Jones David
- E O'Donnell Sarah
- Eastick Anne
- Ebinuma Hirotoshi
- Ede Roland
- Elia Gianfranco
- Elliott Keith
- Elphick David
- Eric Gershwin M
- Evans Chris
- Evans Richard
- F Mells George
- F Seldin Michael
- Fabris Luca
- Fagiuoli Stefano
- Fairlamb Helen
- Farrington Liz
- Featherstone James
- Ferrari Carlo
- Fisher Neil
- Flahive Kerry
- Floreani Annarosa
- Foale Carole
- Ford Chris
- Forton Daniel
- Foster Graham
- Fouracres Anna
- Foxton Matthew
- Fraser Andrew
- Fraser Jocelyn
- Fukushima Nobuyoshi
- Furuta Kiyoshi
- Galaska Roman
- Gallagher Susan
- Galli Andrea
- Gasem Jaber
- Gee Ian
- George Keith
- Gerussi Alessio
- Gervais Olivier
- Gess Markus
- Ghent Cameron
- Ghosh Deb
- Giannini Edoardo
- Gibbins Andrew
- Gitahi Jane
- Gleeson Dermot
- Glenn Sue
- Gocher Denise
- Goggin Patrick
- Gooding Ian
- Gorard David
- Gordon Fiona
- Gordon Harriet
- Gotto James
- Grant Allister
- Grattagliano Ignazio
- Graves Lyn
- Gray Catherine
- Green Marie
- Greer Sandra
- Grellier Leonie
- Grieve Emma
- Grimley Charles
- Grover Bob
- Gu Xiangjun
- Gunasekera Anton
- Gunson Bridget
- Gunter Emma
- Gupta Hemant
- Gyawali Pranab
- Hails Janeane
- Hamilton Caroline
- Hamilton Maria
- Hankey Lorraine
- Harada Kenichi
- Harada Masaru
- Harding Tim
- Harrison Melanie
- Harvey Rory
- Hashimoto Etsuko
- Hayashi Shigeki
- Hayes Maria
- Healey Christopher
- Heneghan Michael
- Higham Andrew
- Higuchi Nobito
- Himoto Takashi
- Hines Frances
- Hirano Katsuji
- Hirashima Noboru
- Hirata Keisuke
- Hirschfield Gideon
- Hitomi Yuki
- Hobson Lucie
- Hoeroldt Barbara
- Hogben Karen
- Holbrook Becky
- Holder Sophie
- Honda Koichi
- Honda Masao
- Houghton Kathryn
- Hovell Christopher
- Hughes Maggie
- Hussaini Hyder
- Hynes Abigail
- Ichida Takafumi
- Ichikawa Tatsuki
- Ido Akio
- Innes Caron
- Invernizzi Pietro
- Ishibashi Hiromi
- Ishida Jinya
- Ito Masahiro
- J Cordell Heather
- Jain Sanjiv
- Jing Kaiyan
- Jones David
- Jones Jayne
- Jones Linda
- Jones Rebecca
- Jones Sarah
- Jones Susan
- Joshita Satoru
- Juran Bruce
- Kamitsukasa Hiroshi
- Kanda Tatsuo
- Kaneko Shuichi
- Kapur Kapil
- Karmo Mazn
- Kato Michio
- Katsushima Shinji
- Kawai Yosuke
- Kawashima Minae
- Keggans Janie
- Kendall Jennie
- Kent Linda
- Kent Melanie
- Kikuchi Kentaro
- Kikuchi Masahiro
- King Alistair
- Kitchen Paul
- Klass Howard
- Kobata Tatsuro
- Kobayashi Masakazu
- Koda Masaharu
- Koga Michiaki
- Kohn Seik-Soon
- Kokudo Norihiro
- Komatsu Tatsuji
- Komeda Toshiki
- Komori Atsumasa
- Komura Takuya
- Kordula Jean
- Koss Konrad
- Kouno Hiroshi
- Kouno Hirotaka
- L Almasio Piero
- Lambourne Victoria
- Lampertico Pietro
- Lancaster Nicola
- Lawlor Caroline
- Lazaridis Kostas
- Lee Hye-Jeong
- Lee Tom
- Leoni Marina
- Levi Sass
- Li Andy
- Li Zhiqiang
- Lim Guan
- Lipscomb George
- Liu Xiangdong
- Lleo Ana
- Loftus Alison
- Lombard Martin
- Longhurst Beverley
- Lord Susan
- Lu Yue
- Lye Ch'ng Chin
- Macdonald Christopher
- MacFaul George
- MacNicol Carolyn
- Maehara Yoshihiko
- Maiden Jane
- Makita Fujio
- Malinverno Federica
- Maltby Julia
- Mancuso Clara
- Mandal Aditya
- Mann Steven
- Mannami Tomohiko
- Mano Yutaka
- March Linda
- Maria Battezzati Pier
- Maria Paraboschi Elvezia
- Marley Richard
- Marra Fabio
- Marriott Suzie
- Marshall Eileen
- Martin Kate
- Martin Kirsty
- Marzioni Marco
- Masaki Naohiko
- Mason Andy
- Massironi Sara
- Mathew Ray
- Mathialahan Thiriloganathan
- Matsushita Kouki
- Mattalia Alberto
- McCorry Roger
- McKay Alexandra
- Mclindon John
- McNair Alastair
- Mendall Mike
- Metcalf Jane
- Miele Luca
- Migita Kiyoshi
- Milani Chiara
- Miller Richard
- Mills Marisa
- Mills Peter
- Millson Charles
- Misra Sharat
- Mita Eiji
- Mitchison Harriet
- Miyake Yasuhiro
- Mizokami Masashi
- Morgan Lisa
- Mori Akira
- Morini Lorenzo
- Morisco Filomena
- Morrison Jennifer
- Mukhopadhya Ashis
- Mulvaney-Jones Caroline
- Mupudzi Mcdonald
- Murata Kazumoto
- Muratori Luigi
- Muratori Paolo
- Muro Toyokichi
- Muscariu Florin
- Musselwhite Janine
- Myers Robert
- N Sandford Richard
- Naeshiro Noriaki
- Naganuma Atsushi
- Nagaoka Shinya
- Nagaoki Yuko
- Nagasaki Masao
- Nakamura Hitomi
- Nakamura Minoru
- Nakamura Yoko
- Nakamuta Makoto
- Nakanuma Yasuni
- Nakao Kazuhiko
- Nambela Estelle
- Naqvi Asifabbas
- Narain Mark
- Nasseri Mariam
- Ncube Noma
- Neal David
- Netherton Kimberley
- Neuberger James
- Ngatchu Theodore
- Nikami Toshiki
- Ninkovic Mary
- Nishida Nao
- Nishimura Hideo
- O'Donnell Denise
- O'Donohoe Lynn
- Oblak Metod
- Ocker Kate
- Ohara Yukio
- Ohira Hiromasa
- Onji Morikazu
- Orpe Jacky
- Ota Hajime
- Palegwala Altaf
- Palmer Caroline
- Panter Simon
- Patanwala Imran
- Patel Minesh
- Pateman Hilary
- Paton Alison
- PBC Consortium Canadian-US
- PBC Genetics Study Group Italian
- PBC-GWAS Consortium Japan
- Pearson Sallyanne
- Peltekian Kevork
- Penn Ruth
- Pereira Steve
- Picciotto Antonio
- Piotrowicz Andrzej
- Pitcher Maxton
- Pollock Katharine
- Portincasa Piero
- Prasad Geeta
- Premchand Purushothaman
- Prince Martin
- Przemioslo Robert
- Quinn Marie
- Rahman Mesbah
- Ramage John
- Ramakrishnan Subramaniam
- Ramanaden David
- Ransford Rupert
- Raymode Parizade
- Rees Ian
- Richardson Paul
- Ridpath Jo
- Rigamonti Cristina
- Rolls Sally-Ann
- Ronca Vincenzo
- Rosina Floriano
- Rushbrook Simon
- Sadeghian Joy
- Saeed Athar
- Saha Subrata
- Sakai Hironori
- Sakisaka Shotaro
- Saksena Sushma
- Salam Imroz
- Sanghi Pradeep
- Saoshiro Takeo
- Sato Takeaki
- Saveria Croc\ue8 Lory
- Sayer Joanna
- Seike Masataka
- Sen Sambit
- Senju Michio
- Seward Katie
- Shah Amir
- Shallcross Christopher
- Sharer Nicholas
- Shaukat Syed
- Shearman Jeremy
- Shepherd Alan
- Shewan Tracey
- Shi Yongyong
- Shibata Hidetaka
- Shidrawi Ray
- Shim Wong Voi
- Shimada Masaaki
- Shimada Yusuke
- Shimoda Shinji
- Shinder Bal
- Shirabe Ken
- Shmueli Udi
- Shorrock Christopher
- Shpuza Ervin
- Silvestre Valeria
- Simpson Diane
- Singhal Amit
- Singhal Saket
- Sirdefield Dawn
- Sivaramakrishnan Nurani
- Slininger Susan
- Soejima Yuji
- Southern Paul
- Spinzi Giancarlo
- Spurdle Katie
- Srirajaskanthan Raj
- Stableforth William
- Stafford Lizzie
- Stansfield Glynis
- Strazzabosco Mario
- Sturgess Richard
- Subhani Javaid
- Sugawara Yasuhiro
- Sugi Kazuhiro
- Sugimoto Rie
- Sweeting Helen
- Takahashi Hironao
- Takaki Akinobu
- Takaki Hitoshi
- Takesaki Eiichi
- Taketomi Akinobu
- Takeyama Yasuaki
- Takikawa Hajime
- Tamura Sumito
- Tan LaiTing
- Tanaka Atsushi
- Tanaka Tomohiro
- Tang Ruqi
- Taniai Makiko
- Tanqueray Elizabeth
- Tarocchi Mirko
- Taylor Natalie
- Taylor-Robinson Simon
- Thomas Caradog
- Thomas Carol
- Thorburn Douglas
- Thornthwaite Sarah
- Tibble Jeremy
- Tiribelli Claudio
- Tokunaga Katsushi
- Toniutto Pierluigi
- Townshend Paula
- Tregonning Julie
- Tripoli Sherill
- Tsubouchi Hirohito
- Tsunematsu Seiji
- Tsuruta Satoru
- Tyrer David
- Uemoto Shinji
- Ueno Kazuko
- Ueno Yoshiyuki
- Umemura Takeji
- Unitt Esther
- Valenti Luca
- Valliani Talal
- Van Duyvenvoorde Greta
- Verheyden Juliette
- Vinci Maria
- Vyas Samir
- Walker Erin
- Walker Kirsten
- Walsh Sue
- Warner Karen
- Watanabe Yukio
- Watson Alan
- Watts Gill
- Whalley Simon
- Whatley Gregory
- Wheatley Natalie
- White Nikki
- Whiteman Jessica
- Wilhelmsen Elva
- Wilkins Joy
- Wilkinson Mark
- Williams Bronwen
- Williams D
- Williams Earl
- Williams Simon
- Winter Louise
- Wood Gordon
- Wooldridge Helen
- Wright Alice
- Wright Fiona
- Wright Mark
- Xie Gang
- Xiong Ma
- Yabuuchi Iwao
- Yagi Shintaro
- Yagura Michiyasu
- Yamagiwa Satoshi
- Yamamoto Kazuhide
- Yamamoto Tetsuo
- Yamashiki Noriyo
- Yamashita Tsutomu
- Yamauchi Kazuhiko
- Yapp Tom
- Yasunami Michio
- Yatsuhashi Hiroshi
- Yokosuka Osamu
- Yoong Kevin
- Yoshizawa Kaname
- Young Karin
- Zeniya Mikio
- Zuin Massimo
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2021
- Field of study
BACKGROUND & AIMS: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. METHODS: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). RESULTS: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10(-4), with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10(-6); odds ratio [OR], 1.39; 95% confidence interval [CI], 1.028-1.88; Japanese cohort). Although the transethnic meta-analysis evidenced only a suggestive signal (rs2239452, mapping within the PIM2 gene; OR, 1.17; 95% CI, 1.09-1.26; P = 9.93 × 10(-8)), the population-specific meta-analysis showed a genome-wide significant locus in East Asian individuals pointing to the same region (rs7059064, mapping within the GRIPAP1 gene; P = 6.2 × 10(-9); OR, 1.33; 95% CI, 1.21-1.46). Indeed, rs7059064 tags a unique linkage disequilibrium block including 7 genes: TIMM17B, PQBP1, PIM2, SLC35A2, OTUD5, KCND1, and GRIPAP1, as well as a superenhancer (GH0XJ048933 within OTUD5) targeting all these genes. GH0XJ048933 is also predicted to target FOXP3, the main T-regulatory cell lineage specification factor. Consistently, OTUD5 and FOXP3 RNA levels were up-regulated in PBC case patients (1.75- and 1.64-fold, respectively). CONCLUSIONS: This work represents the first comprehensive study, to our knowledge, of the chrX contribution to the genetics of an autoimmune liver disease and shows a novel PBC-related genome-wide significant locus.The article is available via Open Access. Click on the 'Additional link' above to access the full-text.Published version, accepted versio
The surgical safety checklist and patient outcomes after surgery: a prospective observational cohort study, systematic review and meta-analysis
- Author
- Ab Majid Mohd Azuan
- Ab Rahman Ahmad Sufian
- Ab Rahman Rusnah
- Abayasinghe Chamika
- Abbas Muntadhar
- Abbott T. E. F.
- Abbott Tom
- Abd Ghafar Fara Nur Idayu
- Abd Hadi Husni Zaeem
- Abdel Goad Ehab Helmy
- Abdullah Noor Hairiza
- Abdur-Rahman Lukman
- Abeloos Jacques
- Abernethy Caroline
- Abidin Ucu Nurhadiat
- Abrunhosa Alexandra
- Absar Mohammed
- Adam Suwayba
- Adams David
- Adams George
- Adamson Michael
- Adekola Oyebola
- Adelaja Yemi
- Ademola Adeyinka
- Adenekan Anthony
- Adenike Odewabi
- Adeolu Augustine A.
- Adetoye Adedapo
- Adewale Badru
- Adigun Tinuola
- Adolfsson Anne
- Africander Cucu
- Afshari Arash
- Agarwal Vandana
- Agodirin Olayide
- Aguzzoli Crisitiano
- Ahamed khader null
- Ahmad Azam Ummi Azmira
- Ahmad Abdurrahman
- Ahmad Norfaizan
- Ahmad T.
- Ahmad Tahania
- Ahmad Yousra
- Ahmed Ahmed
- Ahmed Jamil
- Ahmed Tahania
- Ai Yanqiu
- Aignatoaie Mariana
- Aimoniotou-Georgiou Eleni
- Akanmu Olanrewaju
- Akerman Nik
- Akinwale Mukaila
- Al Anizi Mashel
- Al hussaini Sabah
- Al'Amri Khalid
- Al-Soudaine Yassr
- Aladin Hafiz
- Alagbe-Briggs Olubusola
- Albaj Safauldeensalem
- Alberto Lisi Zaheer Moolla
- AlbertoVolta Carlo
- Alcock David
- Alcock Liam
- Aldecoa Cesar
- Aleixo Fábia Berganton
- Alexander Hazel
- Alexander Maini
- Alexander-Sefre Farhad
- Alherz Fadhel
- Ali Hani
- Ali Marlynn
- Ali Sarah
- Alias Abdul Hafiz
- Alias Anita
- Alit Mahaalit Aribawa
- Allen Samantha
- Allen Sara Jane
- Allison Joanna
- Alloj Chiara
- Allorto Nikki Leigh
- Allsop Joanne
- Almeida William
- Alonso Eduardo
- Alonso José Ignacio
- Alphonsus Christella
- Alvares Danielle
- Alves Maria Joao
- Amador Juan Carlos Bravo
- Ameer Yusuf
- Amendola Cristina Prata
- Ami Noam
- Amstrup-Hansen Louise
- Anagnou Athina
- Andersen Cheme
- Anderson Charlotte
- Anderson Colette
- Anderson Frank
- Anderson Philip
- Andreadaki Evangelia
- Andreou Alexandros
- Andreou Prematie
- Andrew Alyson
- Andrews Emma
- Angermair Stefan
- Angus Kirsty
- Anillo Victor
- Antal Oana
- Antill Philip
- Antoniadou Eleni
- Antonina Webombesa
- Apagaki Eymorfia
- Apostolou Konstantinos
- Applewhaite Christopher
- Aquino Laura Patricia González
- Ar Praburaj
- Arawwawala Dilshan
- Ardern Diane
- Argue Ruth
- Arkalaki Eleni
- Arlo whitehouse null
- Armaganidis Apostolos
- Armstrong John
- Armstrong Richard
- Arnaoutoglou Christina
- Arnaoutoglou Elena
- Arnold Glenn
- Arrandale Lindsay
- Arrich James
- Arrigo Mario
- Arshad Homa
- Arshad Mohammed Asif
- Artiles Tania Socorro
- Arumugam Swarna
- Arustei Mirela
- Arvaniti Kostoula
- Arya Aryabiantara
- Arya Shobhit
- Asimakos Andreas
- Aslam F Noorbhai M.
- Asudo Felicia
- Athanasakis Elias
- Atiku Mamuda
- Attrill Elizabeth
- Attwood Clare
- Auer Patrick
- Avidan Michael
- Avila Erendira Jocelin Dominguez
- Avis Joanne
- Awad Hadi
- Axioti Elena
- Azambuja Pedro
- Azevedo Caroline
- Aziz Faizal Zuhri
- Baas Peter
- Baghirzada Leyla
- Bai Hui-Ping
- Bai Yun
- Baillie Shelley
- Baines Duncan
- Baio Thalissa Hermínia
- Bairaktari Aggeliki
- Baker Gerard
- Baker Katie-Anne
- Baker Paul
- Balain Birender
- Balaji Packianathaswamy
- Balajonda Naraida
- Balanescu Andreea
- Balasubramaniam Madhu
- Baldisserotto Sérgio
- Baldwin Jacqueline
- Baldwin Matthew
- Balfoussia Danai
- Bali Christina
- Bandeira Maria Expedito
- Banerjee Robin
- Bankewitz Carla
- Banner-Goodspeed Valerie
- Bao Qi
- Barcraft-Barnes Helena
- Barneto Lisa
- Barnett Andrew
- Baroselli Antonio
- Barraclough James
- Barras Jean-Pierre
- Barrett Stephen
- Barrett Wendy Joan
- Basanth Sujith
- Batchelor Nick
- Bateman Brian
- Bates Alexander
- Bates Sarah
- Batista Hugo Dias
- Bauchmuller Kris
- Bauer Marlene
- Baumgarten Georg
- Baxter Linden
- Beaton Ceri
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- Zerman Luiza
- Zettergren Jan
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- Zhang Shihai
- Zhang Weiwei
- Zhang Xiaoguang
- Zhang Xiaolin
- Zhang Xiaoyan
- Zhang Xuekang
- Zhang Yan
- Zhang Yapping
- Zhang Ye
- Zhang Yuan
- Zhao Bing
- Zhao Bo
- Zhao Chong
- Zhao Jiashi
- Zhao Jinning
- Zhao Lei
- Zhao Lili
- Zhao Shuna
- Zhao Ting
- Zhao Weihong
- Zhao Weilu
- Zhao Xiaoying
- Zhen Jungang
- Zheng Kang
- Zheng Lina
- Zheng Tianzhao
- Zhong Yi
- Zhou Ce
- Zhou Dachun
- Zhou Haidong
- Zhou Haiyan
- Zhou Jiali
- Zhou Jialong
- Zhou Jing
- Zhou Xian-jin
- Zhu Xiaomao
- Zhu Xiaoping
- Zhu Yi
- Zhu Zhipeng
- Zhuang Xiuxiu
- Zilis Georgios
- Zingerle Nicolette
- Zingg Urs
- Zoerner Frank
- Zonneveldt Harry
- Zou Xiaohua
- Zoulamoglou Menelaos
- Zsisku Lajos
- Åkring Irene
- Ögren Katrin
- Publication venue
- Health Sciences Research Commons
- Publication date
- 30/10/2017
- Field of study
© 2017 British Journal of Anaesthesia Background: The surgical safety checklist is widely used to improve the quality of perioperative care. However, clinicians continue to debate the clinical effectiveness of this tool. Methods: Prospective analysis of data from the International Surgical Outcomes Study (ISOS), an international observational study of elective in-patient surgery, accompanied by a systematic review and meta-analysis of published literature. The exposure was surgical safety checklist use. The primary outcome was in-hospital mortality and the secondary outcome was postoperative complications. In the ISOS cohort, a multivariable multi-level generalized linear model was used to test associations. To further contextualise these findings, we included the results from the ISOS cohort in a meta-analysis. Results are reported as odds ratios (OR) with 95% confidence intervals. Results: We included 44 814 patients from 497 hospitals in 27 countries in the ISOS analysis. There were 40 245 (89.8%) patients exposed to the checklist, whilst 7508 (16.8%) sustained ≥1 postoperative complications and 207 (0.5%) died before hospital discharge. Checklist exposure was associated with reduced mortality [odds ratio (OR) 0.49 (0.32–0.77); P\u3c0.01], but no difference in complication rates [OR 1.02 (0.88–1.19); P=0.75]. In a systematic review, we screened 3732 records and identified 11 eligible studies of 453 292 patients including the ISOS cohort. Checklist exposure was associated with both reduced postoperative mortality [OR 0.75 (0.62–0.92); P\u3c0.01; I2=87%] and reduced complication rates [OR 0.73 (0.61–0.88); P\u3c0.01; I2=89%). Conclusions: Patients exposed to a surgical safety checklist experience better postoperative outcomes, but this could simply reflect wider quality of care in hospitals where checklist use is routine
Prospective observational cohort study on grading the severity of postoperative complications in global surgery research
- Author
- Abayasinghe Chamika
- Abbas Muntadhar
- Abbott T. E. F.
- Abbott Tom
- Abdullah Noor Hairiza
- Abdur-Rahman Lukman
- Abeloos Jacques
- Abernethy Caroline
- Abidin Ucu Nurhadiat
- Abrunhosa Alexandra
- Absar Mohammed
- Adam Suwayba
- Adams George
- Adamson Michael
- Adekola Oyebola
- Adelaja Yemi
- Ademola Adeyinka
- Adenekan Anthony
- Adenike Odewabi
- Adeolu Augustine A
- Adetoye Adedapo
- Adewale Badru
- Adigun Tinuola
- Adolfsson Anne
- Aflori Laura
- Africander Cucu
- Afshari Arash
- Agarwal Vandana
- Agodirin Olayide
- Aguzzoli Crisitiano
- Ahmad Abdurrahman
- Ahmad Norfaizan
- Ahmad T.
- Ahmad Tahania
- Ahmad Yousra
- Ahmed Ahmed
- Ahmed Jamil
- Ahmed Tahania
- Ai Yanqiu
- Aignatoaie Mariana
- Aimoniotou-Georgiou Eleni
- Akanmu Olanrewaju
- Akerman Nik
- Akinwale Mukaila
- Al Amri Khalid
- Al Hussaini Sabah
- Al-Soudaine Yassr
- Aladin Hafiz
- Alagbe-Briggs Olubusola
- Albaj Safauldeensalem
- Alcock David
- Alcock Liam
- Aldecoa Cesar
- Aldecoa Cesar
- Aleixo Fábia Berganton
- Alexander Hazel
- Alexander Maini
- Alexander-Sefre Farhad
- Alherz Fadhel
- Ali Hani
- Ali Marlynn
- Ali Sarah
- Alias Abdul Hafiz
- Alias Anita
- Alias Raja Liza Raja
- Allen Samantha
- Allen Sara Jane
- Allison Joanna
- Alloj Chiara
- Allorto Nikki Leigh
- Allsop Joanne
- Almeida William
- Alonso Eduardo
- Alonso José Ignacio
- Alphonsus Christella
- Alvares Danielle
- Alves Maria Joao
- Amador Juan Carlos Bravo
- Ameer Yusuf
- Amendola Cristina Prata
- Ami Noam
- Amstrup-Hansen Louise
- Anagnou Athina
- Andersen Cheme
- Anderson Charlotte
- Anderson Colette
- Anderson Frank
- Anderson Philip
- Andreadaki Evangelia
- Andreou Alexandros
- Andreou Prematie
- Andrew Alyson
- Andrews Emma
- Angel Miguel Paludi
- Angermair Stefan
- Angus Kirsty
- Anillo Victor
- Anizi Mashel Al
- Antal Oana
- Antill Philip
- Antoniadou Eleni
- Apagaki Eymorfia
- Apostolou Konstantinos
- Applewhaite Christopher
- Applewhaite Christopher
- Aquino Laura Patricia González
- Ar Praburaj
- Araujo Daniela Marques
- Arawwawala Dilshan
- Ardern Diane
- Argue Ruth
- Aribawa Mahaalit Alit
- Arkalaki Eleni
- Armaganidis Apostolos
- Armstrong John
- Armstrong Richard
- Arnaoutoglou Christina
- Arnaoutoglou Elena
- Arnold Glenn
- Arrandale Lindsay
- Arrich James
- Arrigo Mario
- Arshad Homa
- Arshad Mohammed Asif
- Artiles Tania Socorro
- Arumugam Swarna
- Arustei Mirela
- Arvaniti Kostoula
- Arvaniti Kostoula
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- Arya Shobhit
- Asimakos Andreas
- Aslam M
- Asudo Felicia
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- Atiku Mamuda
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- Aziz Faizal Zuhri
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- Bai Hui-Ping
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- Zapata Darcy Danitza Mari
- Zbitnew Geoff
- Zeggeren Laura
- Zeidan Lisa
- Zeng Qiuting
- Zettergren Jan
- Zhang Baoling
- Zhang Enman
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- Zhang Huan
- Zhang Jie
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- Zhang Lina
- Zhang Min
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- Zhang Qin
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- Zhang Shihai
- Zhang Weiwei
- Zhang Xiaoguang
- Zhang Xiaolin
- Zhang Xiaoyan
- Zhang Yan
- Zhang Yapping
- Zhang Ye
- Zhang Yuan
- Zhao Bing
- Zhao Bo
- Zhao Chong
- Zhao Jiashi
- Zhao Jinning
- Zhao Lei
- Zhao Shuna
- Zhao Ting
- Zhao Weihong
- Zhao Weilu
- Zhao Xiaoying
- Zhen Jungang
- Zheng Kang
- Zheng Lina
- Zheng Tianzhao
- Zhong Yi
- Zhou Ce
- Zhou Dachun
- Zhou Haidong
- Zhou Haiyan
- Zhou Jiali
- Zhou Jialong
- Zhou Jing
- Zhou Xian-jin
- Zhu Xiaomao
- Zhu Yi
- Zhu Zhipeng
- Zhuang Xiuxiu
- Zilis Georgios
- Zin Nor Hafizah Mohd
- Zingerle Nicolette
- Zingg Urs
- Zoerner Frank
- Zonneveldt Harry
- Zou Xiaohua
- Zoulamoglou Menelaos
- Zsisku Lajos
- Zundert Tom
- Zyl Rebekka
- åkring Irene
- Ögren Katrin
- Publication venue
- 'Wiley'
- Publication date
- 22/10/2018
- Field of study
Background
The Clavien–Dindo classification is perhaps the most widely used approach for reporting postoperative complications in clinical trials. This system classifies complication severity by the treatment provided. However, it is unclear whether the Clavien–Dindo system can be used internationally in studies across differing healthcare systems in high- (HICs) and low- and middle-income countries (LMICs).
Methods
This was a secondary analysis of the International Surgical Outcomes Study (ISOS), a prospective observational cohort study of elective surgery in adults. Data collection occurred over a 7-day period. Severity of complications was graded using Clavien–Dindo and the simpler ISOS grading (mild, moderate or severe, based on guided investigator judgement). Severity grading was compared using the intraclass correlation coefficient (ICC). Data are presented as frequencies and ICC values (with 95 per cent c.i.). The analysis was stratified by income status of the country, comparing HICs with LMICs.
Results
A total of 44 814 patients were recruited from 474 hospitals in 27 countries (19 HICs and 8 LMICs). Some 7508 patients (16·8 per cent) experienced at least one postoperative complication, equivalent to 11 664 complications in total. Using the ISOS classification, 5504 of 11 664 complications (47·2 per cent) were graded as mild, 4244 (36·4 per cent) as moderate and 1916 (16·4 per cent) as severe. Using Clavien–Dindo, 6781 of 11 664 complications (58·1 per cent) were graded as I or II, 1740 (14·9 per cent) as III, 2408 (20·6 per cent) as IV and 735 (6·3 per cent) as V. Agreement between classification systems was poor overall (ICC 0·41, 95 per cent c.i. 0·20 to 0·55), and in LMICs (ICC 0·23, 0·05 to 0·38) and HICs (ICC 0·46, 0·25 to 0·59).
Conclusion
Caution is recommended when using a treatment approach to grade complications in global surgery studies, as this may introduce bias unintentionally