14 research outputs found
Calorie restriction activates new adult born olfactory‐bulb neurones in a ghrelin‐dependent manner but acyl‐ghrelin does not enhance subventricular zone neurogenesis
- Author
- Publication venue
- 'Wiley'
- Publication date
- 01/01/2019
- Field of study
The ageing and degenerating brain show deficits in neural stem/progenitor cell (NSPC) plasticity that are accompanied by impairments in olfactory discrimination. Emerging evidence suggests that the gut hormone ghrelin plays an important role in protecting neurones, promoting synaptic plasticity and increasing hippocampal neurogenesis in the adult brain. In the present study, we investigated the role of ghrelin with respect to modulating adult subventricular zone (SVZ) NSPCs that give rise to new olfactory bulb (OB) neurones. We characterised the expression of the ghrelin receptor, growth hormone secretagogue receptor (GHSR), using an immunohistochemical approach in GHSR‐eGFP reporter mice to show that GHSR is expressed in several regions, including the OB but not in the SVZ of the lateral ventricle. These data suggest that acyl‐ghrelin does not mediate a direct effect on NSPC in the SVZ. Consistent with these findings, treatment with acyl‐ghrelin or genetic silencing of GHSR did not alter NSPC proliferation within the SVZ. Similarly, using a bromodeoxyuridine pulse‐chase approach, we show that peripheral treatment of adult rats with acyl‐ghrelin did not increase the number of new adult‐born neurones in the granule cell layer of the OB. These data demonstrate that acyl‐ghrelin does not increase adult OB neurogenesis. Finally, we investigated whether elevating ghrelin indirectly, via calorie restriction (CR), regulated the activity of new adult‐born cells in the OB. Overnight CR induced c‐Fos expression in new adult‐born OB cells but not in developmentally born cells, whereas neuronal activity was absent following re‐feeding. These effects were not present in ghrelin−/− mice, suggesting that adult‐born cells are uniquely sensitive to changes in ghrelin mediated by fasting and re‐feeding. In summary, ghrelin does not promote neurogenesis in the SVZ and OB; however, new adult‐born OB cells are activated by CR in a ghrelin‐dependent manner
Loss-of-Function Genomic Variants Highlight Potential Therapeutic Targets for Cardiovascular Disease
- Author
- Acheampong Akua
- Arnett Donna K.
- Brumpton Ben
- Chen Jin
- Fritsche Lars G.
- Gabrielsen Maiken E.
- Gagliano Taliun Sarah A.
- Graham Sarah E.
- Grooms Austen
- Hornsby Whitney E.
- Liu Yuhao
- Lundegaard Pia R.
- Løset Mari
- Nielsen Jonas B.
- Olesen Morten S.
- Overton William
- Rai Vivek
- Rom Oren
- Roychowdhury Tanmoy
- Schaefer Amanda
- Sidore Carlo
- Skogholt Anne Heidi
- Surakka Ida
- Taylor Kent D.
- Villacorta Luis
- Wolford Brooke
- Zajac Gregory J. M.
- Zhang He
- Zhang Jifeng
- Zhao Ying
- Zhou Wei
- Publication venue
- UKnowledge
- Publication date
- 18/12/2020
- Field of study
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide analyses of participants in the HUNT Study in Norway (n = 69,479) to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function. We identify 76 (11 previously unreported) presumed causal protein-altering variants associated with one or more CVD- or liver-related blood traits. Nine of the variants are predicted to result in loss-of-function of the protein. This includes ZNF529:p.K405X, which is associated with decreased low-density-lipoprotein (LDL) cholesterol (P = 1.3 × 10−8) without being associated with liver enzymes or non-fasting blood glucose. Silencing of ZNF529 in human hepatoma cells results in upregulation of LDL receptor and increased LDL uptake in the cells. This suggests that inhibition of ZNF529 or its gene product should be prioritized as a novel candidate drug target for treating dyslipidemia and associated CVD
The development and validation of a scoring tool to predict the operative duration of elective laparoscopic cholecystectomy
- Author
- Aawsaj Yousif
- Abayomi Michael
- Acharya Vikas
- Aggarwal Smeer Kumar
- Ahmad Anwar
- Ahmed Irfan
- Ahmed Jamil
- Ahmed Javed
- Ahmed Talat
- Ainley Paul
- Akhtar Mansoor
- Al Amari Khalid
- Al-Abed Yahya A.
- Al-Akash Musallam
- Al-Bahrani Ahmed Z.
- Al-Khyatt Waleed
- Al-Muhktar Ahmed
- Al-Sarireh Bilal
- Al-Taan Omer
- Alagaratnam Swethan
- Alam Imran
- Alberts Justin
- Alderson Derek
- Aldridge Roland C.
- Aleksandrov Danail
- Ali Haythem
- Ali Shahda
- Amin Khalid
- Andrew David R.
- Appleton Shaun
- Arhi Chanpreet
- Aroori Somaiah
- Aryal Kamal
- Asad Mehek
- Aseem Rabiya
- Asprou Fotini M.
- Awan Altaf
- Ayaani Soofiyah
- Aymon null
- Babu Benoy I.
- Bajwa Dalvir S.
- Bajwa Farrukh M.
- Baker Andrew L.
- Balfe Paul
- Ball William R.
- Ballance Laura
- Banwell Victoria
- Barnes James
- Barrie Jenifer
- Bartlett Francis
- Basheer Mohammed
- Bashir Gareth
- Basra Melvinder
- Basu Sanjoy
- Basynat Pradeep
- Batt Jeremy
- Bausbacher Harald
- Bawa Sadiq
- Beasley William D.
- Belding Rowena
- Bellini Maria Irene
- Bennett Stephen P.
- Bhandari Santosh
- Bharamgoudar Reshma
- Bhattacharya Vish
- Blane Christine
- Blazeby Jane M.
- Boal Matthew
- Boddy Alexander
- Boland Michael
- Bond-Smith Giles
- Booth Michael I.
- Borowski David W.
- Bowen Laura
- Boyce Kathryn M.
- Boyd Alan T.
- Bradley Donal
- Bradley Neil
- Brennan Stephen
- Brett Daniel
- Broadhurst Jack
- Brooke Eleanor
- Brown Timothy H.
- Bryant Alice
- Buchan Joanna
- Bullen Naomi
- Bunnell Catherine
- Bunting David M.
- Burke Paul
- Byrne James P.
- Byrnes Colman K.
- Campbell William
- Carney Kate
- Carney Kate
- Carroll Paul
- Carter C. Ross
- Carter Nicholas C.
- Carty Nick
- Cassidy John T.
- Chambers Adam
- Chambers Alice
- Chambers Alice
- Chan Wei Ming
- Chang Jessica
- Charalabopoulos Alexandros
- Chauhan Neal
- Cheung Melanie
- Chhabra Alok
- Chishti Imran A.
- Chitre Vivek
- Choy Alfred
- Cieplucha Krzysztos
- Clements Joshua M.
- Coats Maria
- Cockbain Andrew J.
- Coe Peter O.
- Connelly Martin
- Cooke Fiachra
- Courtney Michael J.
- Cowley Jonathan B.
- Cross Keith S.
- Cuming Tamzin
- Cunha Pedro
- Dalgaty Faith
- Dar Farooq
- Date Ravindra
- Dave Rajiv V.
- Davey Phil
- Davies James
- Dawson Suzanne
- De Marchi Joshua A.
- de Siqueira Jonathan
- Deguara Jean
- Delisle Theo G.
- Dennison A. R.
- Derbyshire Laura
- Devoto Laurence
- Dhillon Ajit
- Diamond Tom
- Dickson-Lowe Richard
- Digney Ruairi
- Dindyal Shiva
- Dobbins Brian
- Doe Matthew
- Dorrian Emmet
- Doulias Triantafyllos
- Downing Justine
- Drake Benjamin
- Driscoll Peter J.
- Duke Diana
- Durkin Damien
- Dwerryhouse Simon J.
- D’Costa Conrad
- Ebdewi Hamdi
- Ebied Husam
- Eisawi Abdalla
- El-Dhuwaib Yesar
- El-Hasani Shamsi S.
- Elkheir Natalie
- Elmasry Mohamed
- Elsayed Mohammed
- Elshaer Mohamed
- Emesih Sophie
- Farag Sameh F.
- Farooq Ansar
- Farouk Marwan
- Fasih Tani
- Fawole Adeshina S.
- Fenwick Stephen
- Ferguson Graeme
- Ferris Paul
- Finch David
- Finch J. G.
- Finlay Ian
- Fleming Katie
- Fletcher Ted
- Fordham Imogen J.
- Forouzanfar Amir
- Forrest Craig R.
- Forster Luke
- Fothergill Laura
- Frame Richard J.
- Francombe James
- Frank Lucinda
- Fusai Guiseppe
- Galanopoulos Giorgios
- Gallagher Paul V.
- Garcea Giuseppe
- Gardner-Thorpe James
- Geoghegan Justin G.
- Geogloma Ileana
- Gerakopoulos Stratos
- Ghareeb Essam
- Ghazanfar Mudassar A.
- Gibson Simon
- Giles Mathew
- Giovinazzo Francesco
- Giwa Lola
- Goh Yan Li
- Gopalswamy Sivakumar
- Goscimski Andrzej
- Gossage James A.
- Gough Martin
- Gould Laura
- Gould Laura
- Grant Alan J.
- Gravante Gianpiero
- Griffiths Ewen
- Griffiths Ewen A.
- Gull Sadaf
- Gunasekera Rohan T.
- Gurung Kabita
- Guthrie Graeme J. K.
- Guy Finch J.
- Hafiz Shazia
- Halkias Constantine
- Hall Claire
- Hamady Zayed
- Hamdan Alhafidz
- Hamdan Mohammed F.
- Hamilton Emma
- Hancorn Kate
- Haque Manzarul
- Haque Samer Ul
- Hardy Thomas J.
- Hargreaves Anita
- Harilingam Mohan
- Harris Andrew
- Harrison Ewen
- Hawkins Helen
- Heath Jonathan
- Hebbar Madhusoodhana
- Henderson Lucy T.
- Henley Natasha
- Heshaishi Mohamed
- Hewes James
- Hewes James C.
- Heywood Nick
- Higgs Simon M.
- Hill Arnold D. K.
- Hindley Caroline
- Hirst Natalie A.
- Hisham Elzanati
- Ho Wei-Min
- Hoban Jennifer R.
- Hodgkins Kathryn A.
- Hodson James
- Holroyd David J.
- Hooks Gareth
- Hopwood Benjamin
- Hornby Steve T.
- Hornsby Jane
- Hosie Kenneth B.
- Hosie Kenneth B.
- Hossack Martin R.
- Hossain Tanvir
- Hoti Emir
- Hou David
- Hrycaiczuk Alex
- Hughes Michael
- Hunter David I.
- Hussain Abdulzahra A.
- Hussain Adnan
- Hussain Anwar
- Hussain Najam
- Iftikhar Syed Yusuf
- Iqbal Nusrat
- Iskandar Edrin
- Issa Eyad
- Ivanovski Ivan
- Jackson Andrew
- Jackson Claire
- Jafferbhoy Sadaf F.
- Jambulingam Periyathambi
- Jamdar Saurabh
- Jamel Sara
- Janeczko Adam
- Jaunoo Shameen
- Jayanthi Naga V. G.
- Jelley Clare
- Jennings Neil A.
- Joel Abraham
- Johnpulle Michelle A.
- Johnston Dorothy
- Johnstone Marianne
- Johnstone Marianne
- Joji Nikita
- Jones Claire
- Jones Elinor
- Jones Gareth H.
- Jones M. Angharad
- Jones Michael J.
- Jones Robert P.
- Jones Steven M.
- Kadhim Abbas
- Kadirkamanathan Sritharan
- Kallaway Charlotte
- Kanakala Venkatesh
- Kanavati Osama
- Kansal Nisheeth
- Kaptanis Sarantos
- Karavadra Babu
- Karim Lawen
- Karunakaran Priyadarssini
- Kaur Parminder
- Kausar Ambareen
- Kelly Michael E.
- Kendal Chris
- Kennedy David
- Kenny Ross
- Keogh Ken
- Khalil Ahmed M.
- Khan Amarah
- Khan Mohammad A.
- Khan Muhammad A. S.
- Khan Raja Basit
- Khan Shabuddin
- Khan Shahab
- Khawaja Amir
- Khawaja Zechan
- Khogali Elmoataz
- Kimble Adam
- Kinghorn Alison
- Kirkham Amanda J.
- Knight Benjamin
- Knight Katrina
- Kourkulos Michail
- Krysztopik Richard
- Kumar Pradeep
- Kynaston James
- Kyriakidis Dimitrios
- Lalla Kushik
- Lambert Joel
- Lammy Simon
- Lane Risha
- Larkin David
- Law Jennifer
- Lawther Roger
- Lazim Taha
- Lee Kathryn
- Lee Matthew
- Leeder Paul
- Lennon Hannah
- Lewis Michael
- Lim Henry C. C.
- Lim Pei J.
- Lindsay David
- Lloyd David
- Lo Christina
- Lodhia Joshil
- Longbotham David A.
- Loughlin Paula
- Lovett Bryony
- Luhmann Andreas
- Luther Ali Alison
- Lyons Emma M.
- Macano Christina A. W.
- MacArtney Matthew
- Macdonald Andrew
- Madanipour Suroosh
- Madbak Khaliel
- Madurska Marta
- Magee Conor J.
- Maguire Donal
- Maharaj Geta
- Majeed Ali
- Malcolm Cathy
- Malde Deep
- Malik Nabeela S.
- Mallik Mekhlola
- Mansour Sami
- Manu Mangta
- Manzelli Antonio
- Marriott Paul
- Martin Jack
- Martin Sean T.
- Martin Serena
- Marudanayagam Ravi
- Mason Denise
- Mathur Pawan
- Mawhinney Abi
- Mbuvi James
- McAree Barry
- McCain Stephen
- McCallum Iain J. D.
- McClarey Andrew
- McCune Ken
- McDermott Frank
- McEntee Gerry P.
- McGlone Emma R.
- McGuigan Andrew
- McIlmunn Colin
- McKay Damian
- McKenzie Stephen
- McNair Angus G. K.
- Mealy Ken
- Menzies Donald
- Mercer Stuart J.
- Milburn James
- Mirza Ahmed K.
- Mirza Darius
- Miu Victor
- Mockford Justine Downing Katherine A.
- Mohamed Sarah
- Mohan Helen M.
- Mok Kam Wa Jessica
- Monk David
- Morcous Paul
- Morrison Tamsin E. M.
- Mothe Bhavani Sidhartha
- Mowbray Nicholas
- Mozolowski Kirsty L.
- Mukherjee Dipankar
- Murphy James O.
- Murtaza Ghulam
- Nally Deirdre M.
- Napetti Sara
- Nassar Ahmad H.
- Naumann David
- Nedujchelyn Yuwaraja
- Needham Paul J.
- Newton Katy
- Newton Richard C.
- Ngu Wee Sing
- Nicholson Gary A.
- Nicholson James
- Nicholson James A.
- Nicol Laura
- Nicolay Christopher R.
- Nieto Tom
- Nijjar Rajwinder S.
- Nilsen-Nunn April
- Nilsson Frida
- Noble Fergus
- Nofal Emma
- Noor Nigel
- Nunes Quentin M.
- Obeidallah Mohd Rami
- Ogedegbe Arikoge
- Old Oliver J.
- Orchard Philippa
- Orizu Mavis N.
- O’Dwyer Patrick
- O’Neill Maeve A.
- O’Neill Stephen
- O’Reilly Derek A.
- O’shea Kathryn M.
- O’Sullivan Adrian W.
- Packer Jessica R.
- Padwick Robert
- Pannu Arslan
- Panteleimonitis Sofoklis
- Parappally Ciny P.
- Parmar J.
- Pasquali Sandro
- Patel Abhilasha
- Patel Krashna
- Patel Shakira
- Pati Pradeep
- Pearce Belinda
- Pearson Katherine L.
- Peirce Colin
- Pellen Mike
- Peter Mark B.
- Peterson Mark
- Pezzuto Roberto
- Photi Evangelos
- Phull Manraj
- Pinho-Gomes Ana C.
- Pollock Sarah
- Popplewell Matthew
- Pore Naresh
- Porter Jonathan
- Prasad Abheesh R.
- Prasad Raj
- Preston Shaun R.
- Preziosi Giuseppe
- Prince Sarah
- Psica Alicja
- Puig Sonia
- Puntis Daniel J.
- Puri Yogesh
- Qandeel Haitham
- Rabie Mohamed
- Radwan Rami
- Rae David M.
- Rahman Saquib
- Rajaganeshan Rajasundaram
- Rajendran Ilayaraja
- Ramage Michael I.
- Rao Sudhindra T. V.
- Rate Anthony J.
- Raza Soulat
- Read Edward
- Reddy Marcus
- Reece-Bolton Obuobi
- Reed Joanna
- Reid Alistair
- Rengifo Carla
- Rhys Thomas
- Richards Colin H.
- Riera Manel
- Ritchie Judith
- Robb William
- Roberts Geoffrey P.
- Robinson Sarah
- Robinson Steven J.
- Robinson Stuart
- Rodriguez Dan
- Rodriguez Daniel Urriza
- Roebuck Amanda
- Rogers Paul N.
- Rolph Rachel C.
- Roy Sudipta
- Rutherford Claire L.
- Sadat Mohammed M.
- Sakai Naomi
- Sampat Keerthika
- Samuel Nehemiah
- Sarmah Piyush B.
- Sarvananthan Kas
- Sarveswaran Janahan
- Satheesan Steve
- Saunders Michael
- Sayegh Mazin
- Segaran Ashvina
- Sekhar Hema
- Sen Gourab
- Seymour Keith
- Shabo Wael
- Shah Nayab
- Shah Reena
- Shahin Yousef
- Sheel Andrea R. G.
- Shenoy Hrishikesh
- Shetty Vinutha
- Shier David
- Shingler Guy M.
- Shiwani Muhammad Hanif
- Shrestha Ashish Kiran
- Siddiqi Najaf
- Siddiqui Midhat N.
- Siddiqui Zohaib
- Sillo Toritseju O.
- Silva Michael
- Simpson Duncan J.
- Singh Shailendra
- Singh-Ranger Deepak
- Sinha Sidhartha
- Skelly Brendan L.
- Slavin John P.
- Slawinski Corinna
- Sloane Jake
- Smith Stella R.
- Smith Stella R.
- Sonsale Aniket
- Spearman John
- Spence Gary
- Spreadborough Philip
- Spreadborough Philip
- Starmer Benjamin Z.
- Stevenson Thomas E. J.
- Stewart Duncan J.
- Stirland E.
- Subramanium Dhivya
- Sufi Pratik A.
- Sukha Anisha
- Sutcliffe Robert
- Suttie Stuart
- Sutton Cherith M. L. R.
- Szentpali Karoly
- Tang Cheuk-Bong
- Tanner Nicola
- Tate Sophie
- Tayeh Salim
- Taylor Christopher
- Taylor Greg W.
- Teasdale Rebecca L.
- Templeton Alexa
- Terrace John
- Thakkar Rohan
- Thomas George
- Thompson Ronald L. E.
- Tilston Michael P.
- Toh Simon K. C.
- Tolofari Sotonye
- Tomlinson Mark A.
- Trevatt Alexander E. J.
- Trotter Martin
- Tsang Andrew
- Tsavellas George
- Tuck Liz
- Turner Paul
- Tutton Matthew G.
- Ullah Muhammad Fahad
- Upchurch Emma A.
- Urbonas Tomas
- Varghase Joseph
- Vass David G.
- Vaughan Elizabeth M.
- Vijay Vardhini
- Vijayan Deepak
- Vijayanand Dhakshinamoorthy
- Villatoro Eduardo
- Virupaksha Suvi
- Vitone Louis J.
- Vohra Ravinder S.
- Wadley Martin
- Wainwright Denise
- Wajed Saj
- Wallace Tom
- Wardle Stacy
- Warren Conor
- Watkin Helen
- Watson Angus J. M.
- Watson Nicholas F.
- Wayman John
- Weaver Simon
- Weber Beatrix
- Weber Beatrix
- Weerasinghe Chamindri
- Welbourn Hannah
- Wheatley Kevin
- White Timothy J.
- Wijetunga Imeshi
- Wild Jonathan R. L.
- Wilkinson Marc D.
- Williams Sophie V.
- Williamson Tracey K.
- Willson Peter D.
- Wilson Michael S. J.
- Wilson Timothy R.
- Winter Des C.
- Winter Hannah
- Wood Christopher P. J.
- Wood Peter
- Wood Simon
- Woodman Thomas
- Yahya Salama
- Yao Caroline
- Yeldham Geoffrey
- Yoganathan Thusidaran
- Youssef Haney
- Zafar Sara
- Zafrani Zakhi
- Zarsadias Prizzi
- Zeeshan Saquib
- Zhang Catherine
- Ziprin Paul
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2018
- Field of study
Background: The ability to accurately predict operative duration has the potential to optimise theatre efficiency and utilisation, thus reducing costs and increasing staff and patient satisfaction. With laparoscopic cholecystectomy being one of the most commonly performed procedures worldwide, a tool to predict operative duration could be extremely beneficial to healthcare organisations.
Methods: Data collected from the CholeS study on patients undergoing cholecystectomy in UK and Irish hospitals between 04/2014 and 05/2014 were used to study operative duration. A multivariable binary logistic regression model was produced in order to identify significant independent predictors of long (> 90 min) operations. The resulting model was converted to a risk score, which was subsequently validated on second cohort of patients using ROC curves.
Results: After exclusions, data were available for 7227 patients in the derivation (CholeS) cohort. The median operative duration was 60 min (interquartile range 45–85), with 17.7% of operations lasting longer than 90 min. Ten factors were found to be significant independent predictors of operative durations > 90 min, including ASA, age, previous surgical admissions, BMI, gallbladder wall thickness and CBD diameter. A risk score was then produced from these factors, and applied to a cohort of 2405 patients from a tertiary centre for external validation. This returned an area under the ROC curve of 0.708 (SE = 0.013, p 90 min increasing more than eightfold from 5.1 to 41.8% in the extremes of the score.
Conclusion: The scoring tool produced in this study was found to be significantly predictive of long operative durations on validation in an external cohort. As such, the tool may have the potential to enable organisations to better organise theatre lists and deliver greater efficiencies in care
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
- Becker Michael
- Bell Emma
- Bell George I.
- Bellard Terell M.
- Bellerby Damian
- Bellerby Tristram
- Belter Edward A., Jr.
- Bemrose Richard
- Benard Michael Anthony
- BenKahla Alia
- Benke J
- Benner William
- Bennett James
- Bensasson Douda
- Bentley Andrew
- Bentley Dan
- Bentley David
- Berardinis Véronique de
- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
- Blazej Robert
- Blitshsteyn Berta
- Blomstrom David B.
- Bloom Scott
- Bloom Toby
- Blumer Heather
- Blye Jason
- Blyth Peter R.
- Blöcker Helmut
- Boatright Elizabeth
- Boehm John
- Boen Juanan
- Boguslavskiy Leonid
- Bolton Christel
- Bolund Lars
- Bondoc Marnel
- Bonfield James
- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
- Brady Nicola
- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
- Brooking Shane
- Brottier Philippe
- Brown Andrew
- Brown Clive
- Brown Jacqui
- Brown Margaret
- Brown Mary
- Brown Mary J.
- Brown Michael
- Brown Nancy C.
- Bruce David D.
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- Widaa Sara
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- Yue Shujie
- Yumae Brian
- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Recommended from our members
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
- Author
- Acheampong Akua
- Arnett Donna K
- Ashley-Koch Allison E
- Aslibekyan Stella
- Barnes Kathleen C
- Becker Lewis C
- Bielak Lawrence F
- Blackwell Tom
- Blangero John
- Bleecker Eugene R
- Brummett Chad M
- Brumpton Ben
- Chen Jin
- Chen Yii-Der
- Choi Seung H
- Chung Ren-Hua
- Correa Adolfo
- Cucca Francesco
- Cupples L Adrienne
- Curran Joanne E
- Das Sayantan
- Daya Michelle
- Ellinor Patrick T
- Forer Lukas
- Fritsche Lars G
- Fuchsberger Christian
- Gabrielsen Maiken E
- Gagliano Taliun Sarah A
- Gordeuk Victor R
- Graham Sarah E
- Grooms Austen
- Guo Xiuqing
- Hidalgo Bertha A
- Holmen Oddgeir L
- Hornsby Whitney E
- Irvin Marguerite R
- Jackson Rebecca D
- Johnsen Jill M
- Kang Hyun Min
- Kheterpal Sachin
- Konkle Barbara A
- Kooperberg Charles
- Lasky-Su Jessica
- Lee Seunggeun
- LeFaive Jonathon
- Li Xingnan
- Liu Yuhao
- Lubitz Steven A
- Lundegaard Pia R
- Løset Mari
- Mathias Rasika A
- Meyers Deborah A
- Montgomery Courtney
- Musani Solomon K
- Natarajan Pradeep
- Nielsen Jonas B
- Nouraie Seyed M
- Olesen Morten S
- Overton William
- Palmer Nicholette D
- Pandit Anita
- Peralta Juan M
- Peyser Patricia A
- Rafaels Nicholas
- Rai Vivek
- Reiner Alexander P
- Rich Stephen S
- Rom Oren
- Rotter Jerome I
- Roychowdhury Tanmoy
- Schaefer Amanda
- Schlessinger David
- Schoenherr Sebastian
- Schwander Karen
- Sheehan Vivien A
- Sheu Wayne H-H
- Sidore Carlo
- Skogholt Anne Heidi
- Smith Albert
- Smith Jennifer A
- Surakka Ida
- Taliun Daniel
- Taylor Kent D
- Telen Marilyn J
- Tracy Russell P
- Vasan Ramachandran S
- Villacorta Luis
- Weiss Scott T
- Wilson James G
- Wolford Brooke
- Yanek Lisa R
- Yu Ketian
- Zajac Gregory JM
- Zawistowski Matthew
- Zhang He
- Zhang Jifeng
- Zhang Yingze
- Zhao Ying
- Zhou Wei
- Zollner Sebastian
- Publication venue
- eScholarship, University of California
- Publication date
- 01/12/2020
- Field of study
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide analyses of participants in the HUNT Study in Norway (n = 69,479) to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function. We identify 76 (11 previously unreported) presumed causal protein-altering variants associated with one or more CVD- or liver-related blood traits. Nine of the variants are predicted to result in loss-of-function of the protein. This includes ZNF529:p.K405X, which is associated with decreased low-density-lipoprotein (LDL) cholesterol (P = 1.3 × 10-8) without being associated with liver enzymes or non-fasting blood glucose. Silencing of ZNF529 in human hepatoma cells results in upregulation of LDL receptor and increased LDL uptake in the cells. This suggests that inhibition of ZNF529 or its gene product should be prioritized as a novel candidate drug target for treating dyslipidemia and associated CVD
Recommended from our members
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
- Author
- Acheampong Akua
- Arnett Donna K
- Ashley-Koch Allison E
- Aslibekyan Stella
- Barnes Kathleen C
- Becker Lewis C
- Bielak Lawrence F
- Blackwell Tom
- Blangero John
- Bleecker Eugene R
- Brummett Chad M
- Brumpton Ben
- Chen Jin
- Chen Yii-Der
- Choi Seung H
- Chung Ren-Hua
- Correa Adolfo
- Cucca Francesco
- Cupples L Adrienne
- Curran Joanne E
- Das Sayantan
- Daya Michelle
- Ellinor Patrick T
- Forer Lukas
- Fritsche Lars G
- Fuchsberger Christian
- Gabrielsen Maiken E
- Gagliano Taliun Sarah A
- Gordeuk Victor R
- Graham Sarah E
- Grooms Austen
- Guo Xiuqing
- Hidalgo Bertha A
- Holmen Oddgeir L
- Hornsby Whitney E
- Irvin Marguerite R
- Jackson Rebecca D
- Johnsen Jill M
- Kang Hyun Min
- Kheterpal Sachin
- Konkle Barbara A
- Kooperberg Charles
- Lasky-Su Jessica
- Lee Seunggeun
- LeFaive Jonathon
- Li Xingnan
- Liu Yuhao
- Lubitz Steven A
- Lundegaard Pia R
- Løset Mari
- Mathias Rasika A
- Meyers Deborah A
- Montgomery Courtney
- Musani Solomon K
- Natarajan Pradeep
- Nielsen Jonas B
- Nouraie Seyed M
- Olesen Morten S
- Overton William
- Palmer Nicholette D
- Pandit Anita
- Peralta Juan M
- Peyser Patricia A
- Rafaels Nicholas
- Rai Vivek
- Reiner Alexander P
- Rich Stephen S
- Rom Oren
- Rotter Jerome I
- Roychowdhury Tanmoy
- Schaefer Amanda
- Schlessinger David
- Schoenherr Sebastian
- Schwander Karen
- Sheehan Vivien A
- Sheu Wayne H-H
- Sidore Carlo
- Skogholt Anne Heidi
- Smith Albert
- Smith Jennifer A
- Surakka Ida
- Taliun Daniel
- Taylor Kent D
- Telen Marilyn J
- Tracy Russell P
- Vasan Ramachandran S
- Villacorta Luis
- Weiss Scott T
- Wilson James G
- Wolford Brooke
- Yanek Lisa R
- Yu Ketian
- Zajac Gregory JM
- Zawistowski Matthew
- Zhang He
- Zhang Jifeng
- Zhang Yingze
- Zhao Ying
- Zhou Wei
- Zollner Sebastian
- Publication venue
- eScholarship, University of California
- Publication date
- 01/01/2020
- Field of study
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide analyses of participants in the HUNT Study in Norway (n = 69,479) to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function. We identify 76 (11 previously unreported) presumed causal protein-altering variants associated with one or more CVD- or liver-related blood traits. Nine of the variants are predicted to result in loss-of-function of the protein. This includes ZNF529:p.K405X, which is associated with decreased low-density-lipoprotein (LDL) cholesterol (P = 1.3 × 10-8) without being associated with liver enzymes or non-fasting blood glucose. Silencing of ZNF529 in human hepatoma cells results in upregulation of LDL receptor and increased LDL uptake in the cells. This suggests that inhibition of ZNF529 or its gene product should be prioritized as a novel candidate drug target for treating dyslipidemia and associated CVD
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdelrazik Marwa
- Abdollahi Hamed
- Abdullah T.
- Abecasis Goncalo
- Abedalthagafi M.
- Abel Lynn
- Abernathy C.
- Abraheem Azmeralde
- Abul-Husn Noura S.
- Acquilini D.
- Adams C.
- Adams Emma L.
- Adams K.
- Adamsara Alireza
- Adanini Olurenke
- Adeleye O.
- Adra D.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Agasou A.
- Agrawal Shruti
- Agüero D.
- Ahmad N.
- Ahmadi Saeideh
- Ahmed A.
- Ahmed Cecilia
- Akeroyd L.
- Akhtar M.N.
- Akinkugbe O.
- Aksentijevich Alexandra
- Al-Afghani H.
- Al-Awdah L.
- Alaamery M.
- Alahmadey Z.Z.
- Alaverdian D.
- Alavere H.
- Albader A.
- Albaiceta G.M.
- Albakri J.K.
- AlBardis H.
- Albeladi M.
- Albesher N.
- Albrich W.
- AlDhawi N.
- Aldridge J.
- Aleagha Afshar Etemadi
- Alexander Peter.
- Alfonso J.
- Alghamdi B.
- Alghamdi J.
- Ali A.
- Ali Altaf
- Ali I.A.M.
- Ali Syamlan
- Aliannejad Rasoul
- Aljawini N.
- AlJohani S.
- Alkwai S.
- Allan A.
- Allan E.
- Allan J.
- Alldis Zoe
- Allen L.
- Allen Meryem
- Allen Schvearn
- Allibone S.
- Allison K.S.
- Allos R.
- Ally S.M.
- AlMalik A.
- Almalki F.
- Almohammed I.
- Almutairi M.
- Alotaibi S.
- Alowayn A.M.
- Alqahtani S.
- Alqubaishi F.
- Alrashed M.
- Alshareef A.
- Alsolm E.
- Alswailm M.
- Altabaibeh A.
- Alvaro A.
- AlZahrani D.
- Amin V.
- Amirsavadkouhi Ali
- Amitrano Sara
- Anastasescu E.
- Anderson F.
- Anderson J.
- Anderson Madeleine
- Anderson Peter
- Anderson S.
- Anderson S.
- Anderson T.
- Andolfo I.
- Andretta F.
- Andreucci E.
- Andrew Angela
- Andrew B.
- Andrew Gratrix
- Andrews E.
- Andrews Shea J.
- Anedda F.
- Anemoli V.
- Annis A.
- Antcliffe David
- Antinori Andrea
- Antoni M.D.
- Anumakonda V.
- Apetri E.
- Aquino Maia
- Arabi Y.M.
- Aravindan Latha
- Arbane Gill
- Archer Katie
- Arden T.
- Arias Sonia Sousa
- Arif S.
- Armstrong Jacob
- Armstrong Lisa
- Armstrong Ruth
- Arning N.
- Arnold Sophie
- Arranz María Jesús
- Arribas E.
- Artuso R.
- Arumugam Prabhu
- Ascolillo Steven
- Ashraf Saima
- Ashton L.
- Aslibekyan S.
- Astin-Chamberlain Raine
- Atkinson E.G.
- Attwood B.
- Aucella F.
- Auld D.
- Auld F.
- Austin Karen
- Austin Pauline
- Auton A.
- Ayers A.
- Azarzar S.
- Bachetti T.
- Baikady R.R.
- Baillie John Kenneth
- Baines Balvinder
- Baines D.
- Baines K.
- Baird Yolanda
- Bakthavatsalam Dhanalakshmi
- Balaconis Mary K.
- Baldassarri M.
- Ball C.A.
- Baltzell A.H.
- Bamford A.
- Bamford Peter
- Banach Dorota
- Bancroft Hollie
- Band G.
- Bandini M.
- Bandla Nageswar
- Bano S.
- Baptista David
- Barakeh D.
- Baras Aris
- Baratti S.
- Barber R.
- Barberis L.
- Barbieri C.
- Barclay Lucy
- Bargagli E.
- Barhoush E.
- Barker J.
- Barnes K.C.
- Baroni S.
- Barrett F.
- Barron A.
- Barry P.
- Bartels M.
- Bartley Shauna
- Baruah R.
- Bashyal Archana
- Basikolo C.
- Bassetti M.
- Bastion V.
- Bates H.
- Bates Michelle
- Batini Chiara
- Battle Ceri
- Bauchmuller K.
- Baxter N.
- Baya N.
- Bayo L.A.
- Beadle Jane
- Bean S.
- Beaumont K.
- Beavis S.
- Beck A.
- Beckmann Noam D.
- Bedini J. L.
- Bee Catherine E.
- Beech E.
- Beech Valerie
- Beekes M.
- Beesley K.
- Begg Colin
- Beguin Y.
- Behan T.
- Beith C.M.
- Belagodu Zakaula
- Belbin Gillian Morven
- Belfield H.
- Belhaj Y.
- Beligni G.
- Belisle A.
- Bell D.
- Bell G.
- Bell M.
- Bell S.
- Bellamy Mary
- Belli M.A.
- Bellini A.
- Bellwood R.
- Below Jennifer
- Bemand T.
- Benetti E.
- Benham Leonie
- Bennett D.
- Bennett Sara
- Bentley David
- Bentley M.
- Benyon S.
- Beranova E.
- Bercades G.
- Bergantini L.
- Bergomi P.
- Berkowitz Nathan
- Bernardo D.
- Bevan E.
- Bewley J.
- Bhatia Nikhil
- Bhatterjee Ravi
- Bhuie Parminder
- Bi R.
- Biagio A.D.
- Bianchi F.
- Bibert S.
- Bibi Fatima
- Biddle Jack
- Biggs Heather
- Birch J.
- Birch J.
- Birch Sophie.
- Birchall K.
- Birchall K.
- Bird S.
- Birkinshaw Isobel
- Birt M.
- Biscarini F.
- Black E.
- Black K.
- Blackledge B.
- Blackman H.
- Blakemore H.
- Blay Natalia
- Blow Sara
- Blunt M.
- Board S.
- Bochud P.Y.
- Bociek Aneta
- Boezen M.
- Boillat N.
- Bokhari M.
- Bolton Matthew
- Bolton Rachel
- Bonner Stephen
- Booker L.
- Borislavova B.
- Borra Catherine
- Botello A.
- Botfield Liam
- Bottà G.
- Bouab M.
- Bough L.
- Boughton A.P.
- Bowes A.
- Bowles Ruth
- Boyle P.
- Boyle R.
- Boz Ceilia
- Bradford Y.
- Bradley C.
- Bradley P.
- Bradley-Potts Joanne
- Bradshaw Zena
- Brady A.
- Brady M.
- Brady R.
- Brandwood C.
- Branney D.
- Brantwood Craig
- Brassard N.
- Brayne A.
- Brealey D.
- Bremmer P.
- Brenner B.
- Bretherick Andrew D.
- Brett Michael
- Brett Stephen
- Brickell K.
- Bridgett V.
- Brimfield Lutece
- Brinkworth Elaine
- Briton Kate
- Britvan Bari
- Bromley M.
- Brooke Hollie
- Brooks S.
- Brown A.
- Brown Adam
- Brown C.W.
- Brown Ellen
- Brown Joanna
- Bruce M.
- Brumpton Ben M.
- Bruno Raffaele
- Brunton Mark
- Bruttini M.
- Bryant J.
- Bryant S.
- Buckley C.
- Buckley Sarah
- Bunni L.
- Burda D.
- Buring Julie E
- Burn I.
- Burnett C.
- Burns K.
- Burt K.
- Burtenshaw Andrew
- Burton Maudrian
- Busani S.
- Bussotti M.
- Butcher D.
- Butler Aaron
- Butler Joanna
- Butler S.
- Butler-Laporte G.
- Butterworth A.S.
- Butterworth-Cowin N.
- Button H.
- Buxbaum Joseph D
- Cabrelli Louise
- Cagova L.
- Caldarelli G.P.
- Callaghan Marie
- Callier S.
- Cameli Paolo
- Campbell Archie
- Campbell Archie
- Campbell Helen
- Campbell Rachael
- Campbell Suzanne
- Campos Sara
- Camsooksai J.
- Canaccini A.
- Cantarini L.
- Cantor M.N.
- Capasso M.
- Capitani K.
- Cappelli S.
- Capps N.
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- Carella M.
- Carey D.J.
- Carmody Margaret
- Carmody S.
- Carnahan M.
- Carreras A.
- Carriero M.L.
- Carter A.
- Carter David
- Carter E.
- Carter Joseph
- Carter S.
- Carungcong J.
- Casey Matt
- Castaño-Vinyals G.
- Castelli F.
- Castle K.
- Castori M.
- Caswell Melanie
- Catena E.
- Caterson Jess
- Cathcart Susanne
- Catlow L.
- Caulfield Mark J.
- Cavazza Anna
- Cawley Kathryn
- Cawthron K.
- Ceri S.
- Chablani M.
- Chadbourn Indra
- Chamnanphon Monpat
- Chan Georgia
- Chan R.
- Chandler B.
- Chang Xiao
- Chapman Susan
- Chariyavilaskul Pajaree
- Charles B.
- Charlesworth Ruth
- Charney Alexander W.
- Charnock R.
- Chasman D.I.
- Chassé M.
- Chaudhary Kumardeep
- Chavan S.
- Cheema Yusuf
- Chen Hung-Hsin
- Chen Jiantao
- Cheng N.
- Cherian Shiney
- Chetam L.
- Chetruengchai Wanna
- Cheyne C.
- Childs D.
- Chittoor G.
- Cho Judy H.
- Cho K.
- Choi Sam
- Choudhury Yasmin
- Christine Almaden-Boyle None
- Chukkambotla Srikanth
- Churchhouse C.
- Chwialkowska Karolina
- Claassen S.
- Clamp Sarah
- Clapham M.
- Claringbould A.
- Clark Amy
- Clark M.
- Clark Martynn
- Clark Richard
- Clark Sarah
- Clark Victoria
- Clarke D.
- Clarke N.
- Clarkson M.
- Clayton Sarah
- Clement Ian
- Clements S.
- Coates Charlotte
- Cockrell Maeve
- Coetzee S.
- Coghlan Phoebe
- Coignet M.
- Coiro G.
- Coker D.
- Cole J.
- Cole J.
- Cole Stephen
- Coleman Dabheoc
- Coles Holly
- Colley Julie
- Collier D.
- Collier David
- Collins Amy
- Collins Brett L.
- Collins C.
- Collins E.
- Collins E.
- Collins Katy
- Collins Rebecca
- Collis M.
- Colobrán R.
- Colombo R.
- Combes Edward
- Connolly K.
- Conticini E.
- Convery K.
- Conyngham J.A.
- Cooper J.
- Cooper L.
- Corcoran Eleanor
- Cordioli Mattia
- Cornell S.
- Corral M.A.
- Corridi M.
- Cortés B.
- Cosgrove D.
- Cosier T.
- Cossarizza A.
- Cother Naiara
- Coto E.
- Coton Z.
- Coulding Martina
- Coutts Audrey
- Coventry T.
- Coviello D.A.
- Cowley A.
- Cowley Nicholas
- Cowton Amanda
- Cox Amber
- Coyle Judy
- Craig J.
- Crawley R.
- Creagh-Brown B.
- Crew A.
- Crickmore V.
- Crisp N.
- Criste Kristine
- Cristiano D.
- Croci L.
- Croci S.
- Croft Maria
- Crook D.W.
- Crooks K.
- Crotti L.
- Crowe Rebecca
- Crowley Maria
- Cruz C.
- Cullell Natalia
- Cullum Louise
- Cunningham A.
- Cunningham M.
- Cupitt Jason
- Curgenven H.
- Cusack Rebecca
- Cusick C.
- Cutler Sean
- Cárcel-Márquez Jara
- D'Alessandro M.
- D'Mellow Kenton
- D'Sylva S.
- Da Gloria Edna Fernandes
- Daga S.
- Daglish Jacqueline
- Dale K.
- Dale S.
- Dalmau D.
- Daly Mark J.
- Daly Zoe
- Dalziel Jack
- Dance A.
- Danesh J.
- Daniel A.
- Daniel Priya
- Daniels A.
- Darcis G.
- Dark P.
- Darlington K.
- Das Mihaela
- Das Sukamal
- Dasgin Jo
- Daubney Esther
- Davey Miriam
- David B.
- Davidson Neil
- Davies C.
- Davies E.
- Davies F.
- Davies G.
- Davies K.
- Davies L.
- Davies Michelle
- Davies R.
- Davis Caroline
- Davison Chloe
- Dawson Deborah
- Dawson J.
- Day Nicky
- Daya M.
- de Almeida Martins L.G.
- de Cid R.
- de Geus E.
- de Gordoa Laura Ortiz-Ruiz
- de la Cal-Sabater P.
- De Neef M.
- De Vivo O.
- Deacon Bethan
- Dearden Joy
- Death Y.
- Debreceni G.
- DeDiego M.L.
- Deelen P.
- Deery J.
- Dei S.
- Delgado Carlos Castro
- Demetriou C.
- Denmade C.
- Dennis C.
- Dent K.
- Dent Martin
- Depante Maria
- Desanctis E.
- Dexter Catherine
- Di Angelantonio Emanuele
- Di Domenico P.
- Di Pietro M.
- Dietl Beatriz
- Digby Brian
- Digby Stephen
- Ding Lijun
- Djeugam B.
- Do Ron
- Dobaño C.
- Doble P.
- Dobson Emma
- Doddato G.
- Dodds Steve
- Domingo C.
- Domínguez-Mayoral A.
- Donaldson A.
- Donaldson D.
- Donati A.
- Donlon S.
- Donnachie J.
- Donne B.
- Donnelly K.
- Donnelly Lorna
- Donner K.
- Donnison P.
- Donovan Sally
- Dooks E.
- Doonan R.
- Dore R.
- Dormand N.
- Douglas K.
- Downes Charlotte
- Drummond Andy
- Duberly Stephen
- Duffield Joseph
- Duffin D.
- Duffy Katharine
- Duffy Stacey
- Duncan E.
- Duncan Esther
- Duncan T.
- Dunmore Charlie
- Durand M.
- Durga L.
- Durie Alison
- Durrans L.J.
- Durrant Georgia
- Duskova M.
- Dykes Joseph
- Eapen B.
- Earle S.G.
- Eastgate-Jackson C.
- Easthope Amy
- Easton J.
- Ebano Patrizia
- Eckbad C.
- Edmond I.
- Edwards M.
- Efford G.
- Egan Jasmine
- Eid Mohammed A.
- El-Jawhari Jehan J.
- El-Lawaty Walaa M.
- El-shanshory Mohamed R.
- El-Sherbiny Yasser M.
- Elgar Greg
- Elhadidy Tamer A.
- Elhassan Munzir
- Elliott K.
- Elliott Katherine S.
- Elliott Paul
- Ellis Hannah
- Elnagdy Marwa H.
- Elsaadany M.
- Elston Kay
- Eltayeb A.
- Eltoukhy Madonna M.
- Emiliozzi A.
- English K.
- Erard V.
- Esko T.
- Esparza-Gordillo J.
- Evitts J.
- Ezeobu Obiageri
- Fabbiani M.
- Fagan Andrew
- Falcone M.
- Fallerini C.
- Farnell-Ward Sarah
- Farquhar F.
- Farré X.
- Farzad Z.
- Faulkner B.
- Faulkner Maria
- Fava F.
- Fawkes Angie
- Fawns-Ritchie Chloe
- Fawzy M.S.
- Fearby M.
- Felemban W.A.
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- Publication venue
- Publication date
- 01/01/2022
- Field of study
Altres ajuts: Department of Health and Social Care (DHSC); Illumina; LifeArc; Medical Research Council (MRC); UKRI; Sepsis Research (the Fiona Elizabeth Agnew Trust); the Intensive Care Society, Wellcome Trust Senior Research Fellowship (223164/Z/21/Z); BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070, BBS/E/D/30002275); UKRI grants (MC_PC_20004, MC_PC_19025, MC_PC_1905, MRNO2995X/1); UK Research and Innovation (MC_PC_20029); the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z); the Edinburgh Clinical Academic Track (ECAT) programme; the National Institute for Health Research, the Wellcome Trust; the MRC; Cancer Research UK; the DHSC; NHS England; the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health (CTSA award number UL1TR001878); the Perelman School of Medicine at the University of Pennsylvania; National Institute on Aging (NIA U01AG009740); the National Institute on Aging (RC2 AG036495, RC4 AG039029); the Common Fund of the Office of the Director of the National Institutes of Health; NCI; NHGRI; NHLBI; NIDA; NIMH; NINDS.Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care or hospitalization after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
A saturated map of common genetic variants associated with human height
- Author
- Abecasis Goncalo R.
- Adair Linda S.
- Adams Hieab H. H.
- Aguilar-Salinas Carlos A.
- Ahluwalia Tarunveer S.
- Akiyama Masato
- Al-Mulla Fahd
- Allison Matthew A.
- Alvarez Marcus
- Andersen Mette K.
- Ani Alireza
- Appadurai Vivek
- Arbeeva Liubov
- Arias Joshua D.
- Arnett Donna K.
- Asselbergs Folkert W.
- Assimes Themistocles L.
- Attia John
- Auton Adam
- Banas Bernhard
- Bandinelli Stefania
- Bartell Eric
- Bennett David A.
- Bergler Tobias
- Berndt Sonja I.
- Bharadwaj Dwaipayan
- Bhaskar Seema
- Bielak Lawrence F.
- Biino Ginevra
- Bin Wei Wen
- Bisgaard Hans
- Boehnke Michael
- Boerwinkle Eric
- Bollepalli Sailalitha
- Bonnycastle Lori L.
- Boomsma Dorret I.
- Borja Judith B.
- Bork-Jensen Jette
- Bouchard Claude
- Bowden Donald W.
- Bradfield Jonathan P.
- Bradford Yuki
- Brandslund Ivan
- Braund Peter S.
- Brody Jennifer A.
- Brumpton Ben Michael
- Burgdorf Kristoffer S.
- Buring Julie E.
- Böger Carsten A.
- Bønnelykke Klaus
- Børglum Anders D.
- Cade Brian E.
- Cai Hui
- Cai Qiuyin
- Campbell Archie
- Catamo Eulalia
- Caulfield Mark J.
- Cañadas-Garre Marisa
- Chai Jin-Fang
- Chai Xiaoran
- Chambers John C.
- Chandak Giriraj R.
- Chang Li-Ching
- Chang Yi-Cheng
- Chanock Stephen
- Chanock Stephen J.
- Chasman Daniel I.
- Chaturvedi Nish
- Chen Chien-Hsiun
- Chen Shyh-Huei
- Chen Yii-Der Ida
- Chen Zhengming
- Cheng Ching-Yu
- Chesi Alessandra
- Cho Yoon Shin
- Choi Seung Hoan
- Christofidou Paraskevi
- Christophersen Ingrid E.
- Chung Ren-Hua
- Ciullo Marina
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- Rosendaal Frits Richard
- Rotter Jerome I.
- Rudan Igor
- Ruggiero Daniela
- Ruotsalainen Sanni E.
- Rutters Femke
- Ryan Kathleen A.
- Rüeger Sina
- Sabanayagam Charumathi
- Sabater-Lleal Maria
- Sakaue Saori
- Saleheen Danish
- Salomaa Veikko
- Samani Nilesh J.
- Sanghera Dharambir K.
- Sattar Naveed
- Saxena Richa
- Schmidt Börge
- Schmidt Helena
- Schmidt Reinhold
- Scholz Markus
- Schulze Matthias B.
- Schunkert Heribert
- Scott Laura J.
- Scott Rodney J.
- Sendamarai Anoop
- Sever Peter
- Shen Botong
- Shi Jingchunzi
- Shin Jae Hun
- Shiroma Eric J.
- Shoemaker M. Benjamin
- Shu Xiao-Ou
- Sidore Carlo
- Sidorenko Julia
- Sim Xueling
- Simonsick Eleanor M.
- Sims Mario
- Singh Jai Rup
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- Slieker Roderick C.
- Smit Roelof A. J.
- Smith Albert V.
- Smith J. Gustav
- Smith Jennifer A.
- Smyth Laura J.
- Snieder Harold
- Southam Lorraine
- Spector Tim D.
- Spracklen Cassandra N.
- Stampfer Meir J.
- Stark Klaus J.
- Stefansson Kari
- Steinthorsdottir Valgerdur
- Strachan David P.
- Sun Liang
- Sun Yan
- Sun Yan V.
- Tabara Yasuharu
- Tai E. Shyong
- Takeuchi Fumihiko
- Tallapragada Divya Sri Priyanka
- Tang Hua
- Tardif Jean-Claude
- Taylor Kent D.
- Tayo Bamidele O.
- Tcheandjieu Catherine
- Terzikhan Natalie
- Tesolin Paola
- Teumer Alexander
- Thanaraj Thangavel A.
- Theusch Elizabeth
- Thompson Deborah J.
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Timmers Paul R. H. J.
- Timpson Nicholas J.
- Tremblay Angelo
- Trompet Stella
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Turman Constance
- Tusié-Luna Maria-Teresa
- Tönjes Anke
- Uitterlinden Andre G.
- Vaccargiu Simona
- van Dam Rob M.
- van der Harst Pim
- van der Laan Sander W.
- van der Most Peter J.
- Van der Velde Nathalie
- van Duijn Cornelia M.
- van Klinken Jan B.
- van Schoor Natasja M.
- van Setten Jessica
- Vedantam Sailaja
- Verma Shefali S.
- Verweij Niek
- Veturi Yogasudha
- Vidal Pedro Marques
- Visscher Peter M.
- Vitart Veronique
- Vollenweider Peter
- Vonk Judith M.
- Vrieze Scott
- Völker Uwe
- Völzke Henry
- Wacher-Rodarte Niels H.
- Walker Mark
- Walters Robin G.
- Wang Carol A.
- Wang Chaolong
- Wang Lihua
- Wang Ya Xing
- Wang Zhe
- Wareham Nicholas J.
- Warren Helen R.
- Watanabe Richard M.
- Watkins Hugh
- Weir David R.
- Werge Thomas M.
- Wickremasinghe Ananda R.
- Widen Elisabeth
- Wielscher Matthias
- Wiggins Kerri L.
- Wilkens Lynne R.
- Willemsen Gonneke
- Willer Cristen J.
- Willett Walter C.
- Wilson James F.
- Winkler Thomas W.
- Winsvold Bendik K S
- Wong Andrew
- Wong Tien-Yin
- Woo Jeong-Taek
- Wood Andrew R.
- Wright Alan F.
- Wu Jer-Yuarn
- Wu Yang
- Wuttke Matthias
- Xia Rui
- Xie Tian
- Xu Huichun
- Yajnik Chittaranjan S.
- Yamamoto Ken
- Yang Jian
- Yang Jingyun
- Yao Jie
- Yengo Loïc
- Yin Xianyong
- Yokota Mitsuhiro
- Young Hannah
- Young Kristin L.
- Yousri Noha A.
- Yu Lei
- Yuan Jian-Min
- Zeggini Eleftheria
- Zemel Babette S.
- Zeng Lingyao
- Zhang Weihua
- Zhang Xinyuan
- Zhao Jing-Hua
- Zhao Wei
- Zheng Wei
- Zhou Wei
- Zhu Xiaofeng
- Zimmermann Martina E.
- Zmuda Joseph M.
- Zoledziewska Magdalena
- Zonderman Alan B.
- Zwart John Anker Henrik
- Åsvold Bjørn Olav
- ‘t Hart Leen M.
- Publication venue
- Publication date
- 01/01/2022
- Field of study
A saturated map of common genetic variants associated with human height
- Author
- Abecasis Goncalo R.
- Adair Linda S.
- Adams Hieab H. H.
- Aguilar-Salinas Carlos A.
- Ahluwalia Tarunveer S.
- Akiyama Masato
- Al-Mulla Fahd
- Allison Matthew A.
- Alvarez Marcus
- Andersen Mette K.
- Ani Alireza
- Appadurai Vivek
- Arbeeva Liubov
- Arias Joshua D.
- Arnett Donna K.
- Asselbergs Folkert W.
- Assimes Themistocles L.
- Attia John
- Auton Adam
- Banas Bernhard
- Bandinelli Stefania
- Bartell Eric
- Bennett David A.
- Bergler Tobias
- Berndt Sonja I.
- Bharadwaj Dwaipayan
- Bhaskar Seema
- Bielak Lawrence F.
- Biino Ginevra
- Bin Wei Wen
- Bisgaard Hans
- Boehnke Michael
- Boerwinkle Eric
- Bollepalli Sailalitha
- Bonnycastle Lori L.
- Boomsma Dorret I.
- Borja Judith B.
- Bork-Jensen Jette
- Bouchard Claude
- Bowden Donald W.
- Bradfield Jonathan P.
- Bradford Yuki
- Brandslund Ivan
- Braund Peter S.
- Brody Jennifer A.
- Brumpton Ben Michael
- Burgdorf Kristoffer S.
- Buring Julie E.
- Böger Carsten A.
- Bønnelykke Klaus
- Børglum Anders D.
- Cade Brian E.
- Cai Hui
- Cai Qiuyin
- Campbell Archie
- Catamo Eulalia
- Caulfield Mark J.
- Cañadas-Garre Marisa
- Chai Jin-Fang
- Chai Xiaoran
- Chambers John C.
- Chandak Giriraj R.
- Chang Li-Ching
- Chang Yi-Cheng
- Chanock Stephen
- Chanock Stephen J.
- Chasman Daniel I.
- Chaturvedi Nish
- Chen Chien-Hsiun
- Chen Shyh-Huei
- Chen Yii-Der Ida
- Chen Zhengming
- Cheng Ching-Yu
- Chesi Alessandra
- Cho Yoon Shin
- Choi Seung Hoan
- Christofidou Paraskevi
- Christophersen Ingrid E.
- Chung Ren-Hua
- Ciullo Marina
- Cocca Massimiliano
- Cole John W.
- Collins Francis S.
- Concas Maria Pina
- Cooper Richard S.
- Couture Christian
- Croteau-Chonka Damien
- Cruz Miguel
- Cucca Francesco
- Cuellar-Partida Gabriel
- Cupples L. Adrienne
- Cutler Michael J.
- Damrauer Scott M.
- Danning Rebecca
- Dantoft Thomas M.
- Daw E. Warwick
- de Borst Gert J.
- de Groot Lisette C. P. G. M.
- De Jager Philip L.
- de Kleijn Dominique P. V.
- Dedoussis George V.
- Degenhard Frauke
- Delgado Graciela E.
- Delitala Alessandro
- Deloukas Panos
- Demirkan Ayse
- den Hollander Anneke I.
- Deng Xuan
- Devineni Poornima
- Dietl Alexander
- Dimitriou Maria
- Dimitrov Latchezar
- Dorajoo Rajkumar
- Du Shufa
- Easton Douglas F.
- Ekici Arif B.
- Elders Petra J. M.
- Eliasen Anders U.
- Eliassen A. Heather
- Ellinor Patrick T.
- Elmståhl Sölve
- Engmann Jorgen E.
- Erdmann Jeanette
- Esko Tõnu
- Evans Michele K.
- Fairhurst-Hunter Zammy
- Farmaki Aliki-Eleni
- Fatkin Diane
- Faul Jessica D.
- Feenstra Bjarke
- Feitosa Mary F.
- Fernandez-Lopez Juan-Carlos
- Ferreira Teresa
- Ferrucci Luigi
- Ford Ian
- Forer Lukas
- Fornage Myriam
- Francescatto Margherita
- Franke Andre
- Franks Paul W.
- Frayling Timothy M.
- Freedman Barry I.
- Freitag-Wolf Sandra
- Fuchsberger Christian
- Galesloot Tessel E.
- Gao Yan
- Gao Zishan
- Gasparini Paolo
- Geller Frank
- Giannakopoulou Olga
- Gieger Christian
- Girotto Giorgia
- Giulianini Franco
- Gjesing Anette P.
- Goddard Michael E.
- Goel Anuj
- Golightly Yvonne M.
- Gonzalez-Villalpando Clicerio
- Gordon Scott D.
- Gordon-Larsen Penny
- Gorski Mathias
- Graff Marielisa
- Graham Sarah E.
- Grallert Harald
- Grant Struan F. A.
- Grarup Niels
- Griffiths Lyn
- Grove Jakob
- Gudnason Vilmundur
- Guo Xiuqing
- Gustafsson Stefan
- Haessler Jeffrey
- Haiman Christopher
- Hakonarson Hakon
- Hansen Thomas
- Hansen Torben
- Hartman Catharina A.
- Hattersley Andrew T.
- Havulinna Aki S.
- Haworth Simon J.
- Hayward Caroline
- He Jing
- Heard-Costa Nancy
- Hebbar Prashantha
- Heckbert Susan R.
- Heid Iris M.
- Heng Chew-Kiat
- Hengstenberg Christian
- Hewitt Alex W.
- Highland Heather H.
- Hindy George
- Hirschhorn Joel N.
- Hishigaki Haretsugu
- Ho Yuk-Lam A.
- Hofer Edith
- Holliday Elizabeth
- Horn Katrin
- Hornsby Whitney E.
- Hottenga Jouke-Jan
- Hoyng Carel B.
- Huang Hongyan
- Huang Jie
- Huang Paul L.
- Huang Wei
- Huerta-Chagoya Alicia
- Huffman Jennifer E.
- Hung Yi-Jen
- Hunt Steven C.
- Huo Shaofeng
- Hveem Kristian
- Hwang Mi Yeong
- Hyppönen Elina
- Iacono William G.
- Ichihara Sahoko
- Iha Hiroyuki
- Ikeda Daisuke D.
- Ikram M. Arfan
- Isasi Carmen R.
- Isono Masato
- Jackson Anne U.
- Jackson Rebecca D.
- Janaka de Silva de
- Jansen Iris E.
- Jarvelin Marjo-Riitta
- Ji Yingjie
- Jiang Yunxuan
- Jin Zi-Bing
- Johansson Ingegerd
- Jonas Jost B.
- Jonsson Anna
- Joshi Peter K.
- Jousilahti Pekka
- Jukema J. Wouter
- Justice Anne E.
- Jäger Susanne
- Jöckel Karl-Heinz
- Jørgensen Torben
- Kalafati Ioanna-Panagiota
- Kamatani Yoichiro
- Kanai Masahiro
- Kang Kui Dong
- Kanoni Stavroula
- Kaprio Jaakko
- Karaderi Tugce
- Kardia Sharon L. R.
- Karpe Fredrik
- Kasturiratne Anuradhani
- Kato Norihiro
- Katsuya Tomohiro
- Kawaguchi Takahisa
- Kee Frank
- Kember Rachel L.
- Kentistou Katherine A.
- Kessler Thorsten
- Khera Amit V.
- Khor Chiea Chuen
- Kiemeney Lambertus A. L. M.
- Kim Bong-Jo
- Kim Eung Kweon
- Kim Han-Na
- Kim Hyung-Lae
- Kim Young Jin
- Kirchhof Paulus
- Kivimaki Mika
- Kleber Marcus E.
- Knol Maria J.
- Koh Woon-Puay
- Koistinen Heikki A.
- Kolovou Genovefa D.
- Kooner Jaspal S.
- Kooperberg Charles
- Kovacs Peter
- Kraaijeveld Adriaan
- Kraft Peter
- Krauss Ronald M.
- Kumari Meena
- Kurbasic Azra
- Kutalik Zoltan
- Kähönen Mika
- Kårhus Line L.
- Köttgen Anna
- Laakso Markku
- Lange Leslie A.
- Langenberg Claudia
- Launer Lenore J.
- Lauzon Marie
- Le Marchand Loic
- Le Marchand Loic
- Le Phuong
- Lea Rodney
- Lee Hyejin
- Lee Jong-Young
- Lee Nanette R.
- Lehtimäki Terho
- Leonard Hampton L.
- Lettre Guillaume
- Li Huaixing
- Li Liming
- Li Shengchao A.
- Li Xiaohui
- Li Xiaoyin
- Liang Jingjing
- Lieb Wolfgang
- Lin Honghuang
- Lin Kuang
- Lin Shih-Yi
- Lin Xu
- Lind Lars
- Lindgren Cecilia M.
- Linneberg Allan
- Liu Ching-Ti
- Liu Jianjun
- Liu Jun
- Liu Xueping
- Lo Ken Sin
- Locke Adam E.
- Loeffler Markus
- Loh Po-Ru
- London Barry
- Long Jirong
- Loos Ruth J. F.
- Lores-Motta Laura
- Luan Jian’an
- Lubitz Steven A.
- Lye Stephen J.
- Lyssenko Valeriya
- Lyytikäinen Leo-Pekka
- Lüll Kreete
- Machado Moara
- Mackey David A.
- Magnusson Patrik K. E.
- Mahajan Anubha
- Malden Deborah E.
- Mamakou Vasiliki
- Mangino Massimo
- Manichaikul Ani
- Marcus Gregory M.
- Marouli Eirini
- Marten Jonathan
- Martin Nicholas G.
- Matsuda Fumihiko
- Mattheisen Manuel
- Mavarani Laven
- McCarthy Mark I.
- McDaid Aaron F.
- McGarrah Robert W.
- McGue Matt
- McKnight Amy Jayne
- Medina-Gomez Carolina
- Medland Sarah E.
- Meidtner Karina
- Melendez Tori L.
- Mellström Dan
- Mercader Josep M.
- Metspalu Andres
- Miao Jenkai
- Milaneschi Yuri
- Miller Jason E.
- Millwood Iona Y.
- Mishra Pashupati P.
- Mitchell Braxton D.
- Mitchell Paul
- Mitchell Ruth E.
- Mohlke Karen L.
- Mook-Kanamori Dennis O.
- Moore Amy
- Morgan Anna
- Morris Andrew D.
- Mucci Lorelei A.
- Mucha Soeren
- Mukamel Ronen E.
- Munroe Patricia B.
- Munz Matthias
- Mägi Reedik
- März Winfried
- Møllehave Line T.
- Nakatochi Masahiro
- Nalls Mike A.
- Nazarian Saman
- Nelson Amanda E.
- Nelson Christopher P.
- Nethander Maria
- Neville Matt J.
- Newton-Cheh Christopher
- Ng Maggie C. Y.
- Nho Chu Won
- Nielsen Aneta A.
- Nielsen Christopher Sivert
- Nolte Ilja M.
- Nongmaithem Suraj S.
- Noordam Raymond
- North Kari E.
- Ntalla Ioanna
- Nutile Teresa
- Nöthen Markus M.
- Ohlsson Claes
- Okada Yukinori
- Oldehinkel Albertine J.
- Orozco Lorena
- O’Donnell Christopher J.
- Pahkala Katja
- Pajukanta Päivi
- Palmer Colin N. A.
- Pandit Anita
- Parra Esteban J.
- Partida Gabriel Cuellar
- Pattaro Cristian
- Pauper Marc
- Pedersen Oluf
- Pennell Craig E.
- Penninx Brenda W. J. H.
- Perusse Louis
- Peters Annette
- Petersen Eva R. B.
- Petersen Liselotte V.
- Peyser Patricia A.
- Pitkänen Niina
- Polašek Ozren
- Porteous David J.
- Posthuma Danielle
- Poveda Alaitz
- Power Chris
- Pramstaller Peter P.
- Preuss Michael H.
- Province Michael A.
- Pyarajan Saiju
- Pärna Katri
- Qi Qibin
- Qu Jia
- Rader Daniel J.
- Raffield Laura M.
- Raghavan Sridharan
- Raitakari Olli T.
- Rakugi Hiromi
- Ralhan Sarju
- Rallidis Loukianos S.
- Ramirez Julia
- Rao Dabeeru C.
- Rasheed Asif
- Raven Dennis
- Rayner Nigel W.
- Redline Susan
- Reilly Dermot F.
- Reiner Alexander P.
- Rhee Sang Youl
- Ridker Paul M.
- Rienstra Michiel
- Ripatti Samuli
- Ritchie Marylyn D.
- Rivadeneira Fernando
- Riveros Carlos
- Roden Dan M.
- Rohde Rebecca
- Rosendaal Frits Richard
- Rotter Jerome I.
- Rudan Igor
- Ruggiero Daniela
- Ruotsalainen Sanni E.
- Rutters Femke
- Ryan Kathleen A.
- Rüeger Sina
- Sabanayagam Charumathi
- Sabater-Lleal Maria
- Sakaue Saori
- Saleheen Danish
- Salomaa Veikko
- Samani Nilesh J.
- Sanghera Dharambir K.
- Sattar Naveed
- Saxena Richa
- Schmidt Börge
- Schmidt Helena
- Schmidt Reinhold
- Scholz Markus
- Schulze Matthias B.
- Schunkert Heribert
- Scott Laura J.
- Scott Rodney J.
- Sendamarai Anoop
- Sever Peter
- Shen Botong
- Shi Jingchunzi
- Shin Jae Hun
- Shiroma Eric J.
- Shoemaker M. Benjamin
- Shu Xiao-Ou
- Sidore Carlo
- Sidorenko Julia
- Sim Xueling
- Simonsick Eleanor M.
- Sims Mario
- Singh Jai Rup
- Singleton Andrew B.
- Sinner Moritz F.
- Sitlani Colleen M.
- Slieker Roderick C.
- Smit Roelof A. J.
- Smith Albert V.
- Smith J. Gustav
- Smith Jennifer A.
- Smyth Laura J.
- Snieder Harold
- Southam Lorraine
- Spector Tim D.
- Spracklen Cassandra N.
- Stampfer Meir J.
- Stark Klaus J.
- Stefansson Kari
- Steinthorsdottir Valgerdur
- Strachan David P.
- Sun Liang
- Sun Yan
- Sun Yan V.
- Tabara Yasuharu
- Tai E. Shyong
- Takeuchi Fumihiko
- Tallapragada Divya Sri Priyanka
- Tang Hua
- Tardif Jean-Claude
- Taylor Kent D.
- Tayo Bamidele O.
- Tcheandjieu Catherine
- Terzikhan Natalie
- Tesolin Paola
- Teumer Alexander
- Thanaraj Thangavel A.
- Theusch Elizabeth
- Thompson Deborah J.
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Timmers Paul R. H. J.
- Timpson Nicholas J.
- Tremblay Angelo
- Trompet Stella
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Turman Constance
- Tusié-Luna Maria-Teresa
- Tönjes Anke
- Uitterlinden Andre G.
- Vaccargiu Simona
- van Dam Rob M.
- van der Harst Pim
- van der Laan Sander W.
- van der Most Peter J.
- Van der Velde Nathalie
- van Duijn Cornelia M.
- van Klinken Jan B.
- van Schoor Natasja M.
- van Setten Jessica
- Vedantam Sailaja
- Verma Shefali S.
- Verweij Niek
- Veturi Yogasudha
- Vidal Pedro Marques
- Visscher Peter M.
- Vitart Veronique
- Vollenweider Peter
- Vonk Judith M.
- Vrieze Scott
- Völker Uwe
- Völzke Henry
- Wacher-Rodarte Niels H.
- Walker Mark
- Walters Robin G.
- Wang Carol A.
- Wang Chaolong
- Wang Lihua
- Wang Ya Xing
- Wang Zhe
- Wareham Nicholas J.
- Warren Helen R.
- Watanabe Richard M.
- Watkins Hugh
- Weir David R.
- Werge Thomas M.
- Wickremasinghe Ananda R.
- Widen Elisabeth
- Wielscher Matthias
- Wiggins Kerri L.
- Wilkens Lynne R.
- Willemsen Gonneke
- Willer Cristen J.
- Willett Walter C.
- Wilson James F.
- Winkler Thomas W.
- Winsvold Bendik K S
- Wong Andrew
- Wong Tien-Yin
- Woo Jeong-Taek
- Wood Andrew R.
- Wright Alan F.
- Wu Jer-Yuarn
- Wu Yang
- Wuttke Matthias
- Xia Rui
- Xie Tian
- Xu Huichun
- Yajnik Chittaranjan S.
- Yamamoto Ken
- Yang Jian
- Yang Jingyun
- Yao Jie
- Yengo Loïc
- Yin Xianyong
- Yokota Mitsuhiro
- Young Hannah
- Young Kristin L.
- Yousri Noha A.
- Yu Lei
- Yuan Jian-Min
- Zeggini Eleftheria
- Zemel Babette S.
- Zeng Lingyao
- Zhang Weihua
- Zhang Xinyuan
- Zhao Jing-Hua
- Zhao Wei
- Zheng Wei
- Zhou Wei
- Zhu Xiaofeng
- Zimmermann Martina E.
- Zmuda Joseph M.
- Zoledziewska Magdalena
- Zonderman Alan B.
- Zwart John Anker Henrik
- Åsvold Bjørn Olav
- ‘t Hart Leen M.
- Publication venue
- 'The Nature Conservancy'
- Publication date
- 01/01/2022
- Field of study
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel2) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10–20% (14–24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries
A saturated map of common genetic variants associated with human height.
- Author
- 't Hart Leen M
- 23andMe Research Team
- Abecasis Goncalo R
- Adair Linda S
- Adams Hieab HH
- Aguilar-Salinas Carlos A
- Ahluwalia Tarunveer S
- Akiyama Masato
- Al-Mulla Fahd
- Allison Matthew A
- Alvarez Marcus
- Andersen Mette K
- Ani Alireza
- Appadurai Vivek
- Arbeeva Liubov
- Arias Joshua D
- Arnett Donna K
- Asselbergs Folkert W
- Assimes Themistocles L
- Attia John
- Auton Adam
- Banas Bernhard
- Bandinelli Stefania
- Bartell Eric
- Bennett David A
- Bergler Tobias
- Berndt Sonja I
- Bharadwaj Dwaipayan
- Bhaskar Seema
- Bielak Lawrence F
- Biino Ginevra
- Bin Wei Wen
- Bisgaard Hans
- Boehnke Michael
- Boerwinkle Eric
- Bollepalli Sailalitha
- Bonnycastle Lori L
- Boomsma Dorret I
- Borja Judith B
- Bork-Jensen Jette
- Bouchard Claude
- Bowden Donald W
- Bradfield Jonathan P
- Bradford Yuki
- Brandslund Ivan
- Braund Peter S
- Brody Jennifer A
- Brumpton Ben
- Burgdorf Kristoffer S
- Buring Julie E
- Böger Carsten A
- Bønnelykke Klaus
- Børglum Anders D
- Cade Brian E
- Cai Hui
- Cai Qiuyin
- Campbell Archie
- Catamo Eulalia
- Caulfield Mark J
- Cañadas-Garre Marisa
- Chai Jin-Fang
- Chai Xiaoran
- Chambers John C
- Chandak Giriraj R
- Chang Li-Ching
- Chang Yi-Cheng
- Chanock Stephen J
- Chasman Daniel I
- Chaturvedi Nish
- Chen Chien-Hsiun
- Chen Shyh-Huei
- Chen Yii-Der Ida
- Chen Zhengming
- Cheng Ching-Yu
- Chesi Alessandra
- Cho Yoon Shin
- Choi Seung Hoan
- Christofidou Paraskevi
- Christophersen Ingrid E
- Chung Ren-Hua
- Ciullo Marina
- Cocca Massimiliano
- Cole John W
- Collins Francis S
- Concas Maria Pina
- Cooper Richard S
- Couture Christian
- Cruz Miguel
- Cucca Francesco
- Cuellar-Partida Gabriel
- Cupples L Adrienne
- Cutler Michael J
- Damrauer Scott M
- Danning Rebecca
- Dantoft Thomas M
- Daw E Warwick
- de Borst Gert J
- de Groot Lisette CPGM
- De Jager Philip L
- de Kleijn Dominique PV
- Dedoussis George V
- Degenhard Frauke
- Delgado Graciela E
- Delitala Alessandro
- Deloukas Panos
- Demirkan Ayse
- den Hollander Anneke I
- Deng Xuan
- Devineni Poornima
- Dietl Alexander
- Dimitriou Maria
- Dimitrov Latchezar
- DiscovEHR (DiscovEHR and MyCode Community Health Initiative)
- Dorajoo Rajkumar
- Du Shufa
- Easton Douglas F
- Ekici Arif B
- Elders Petra JM
- Eliasen Anders U
- Eliassen A Heather
- Ellinor Patrick T
- Elmståhl Sölve
- eMERGE (Electronic Medical Records and Genomics Network)
- Engmann Jorgen E
- Erdmann Jeanette
- Esko Tõnu
- Evans Michele K
- Fairhurst-Hunter Zammy
- Farmaki Aliki-Eleni
- Fatkin Diane
- Faul Jessica D
- Feenstra Bjarke
- Feitosa Mary F
- Fernandez-Lopez Juan-Carlos
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- Ford Ian
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- Francescatto Margherita
- Franke Andre
- Franks Paul W
- Frayling Timothy M
- Freedman Barry I
- Freitag-Wolf Sandra
- Fuchsberger Christian
- Galesloot Tessel E
- Gao Yan
- Gao Zishan
- Gasparini Paolo
- Geller Frank
- Giannakopoulou Olga
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- Girotto Giorgia
- Giulianini Franco
- Gjesing Anette P
- Goddard Michael E
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- Gonzalez-Villalpando Clicerio
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- Gordon-Larsen Penny
- Gorski Mathias
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- Grallert Harald
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- Griffiths Lyn
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- Guo Xiuqing
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- Haessler Jeffrey
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- Hakonarson Hakon
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- Hansen Torben
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- Hattersley Andrew T
- Havulinna Aki S
- Haworth Simon J
- Hayward Caroline
- He Jing
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- Hebbar Prashantha
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- Heid Iris M
- Heng Chew-Kiat
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- Hewitt Alex W
- Highland Heather H
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- Hishigaki Haretsugu
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- Huffman Jennifer E
- Hung Yi-Jen
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- Hwang Mi Yeong
- Hyppönen Elina
- Iacono William G
- Ichihara Sahoko
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- Isono Masato
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- Jackson Rebecca D
- Janaka de Silva H
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- Jarvelin Marjo-Riitta
- Ji Yingjie
- Jiang Yunxuan
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- Johansson Ingegerd
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- Joshi Peter K
- Jousilahti Pekka
- Jukema J Wouter
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- Jäger Susanne
- Jöckel Karl-Heinz
- Jørgensen Torben
- Kalafati Ioanna-Panagiota
- Kamatani Yoichiro
- Kanai Masahiro
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- Karpe Fredrik
- Kasturiratne Anuradhani
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- Katsuya Tomohiro
- Kawaguchi Takahisa
- Kee Frank
- Kember Rachel L
- Kentistou Katherine A
- Kessler Thorsten
- Khera Amit V
- Khor Chiea Chuen
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- Kim Bong-Jo
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- Understanding Society Scientific Group
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- Wacher-Rodarte Niels H
- Walker Mark
- Walters Robin G
- Wang Carol A
- Wang Chaolong
- Wang Lihua
- Wang Ya Xing
- Wang Zhe
- Wareham Nicholas J
- Warren Helen R
- Watanabe Richard M
- Watkins Hugh
- Weir David R
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- Wickremasinghe Ananda R
- Widen Elisabeth
- Wielscher Matthias
- Wiggins Kerri L
- Wilkens Lynne R
- Willemsen Gonneke
- Willer Cristen J
- Willett Walter C
- Wilson James F
- Winkler Thomas W
- Winsvold Bendik S
- Wong Andrew
- Wong Tien-Yin
- Woo Jeong-Taek
- Wood Andrew R
- Wright Alan F
- Wu Jer-Yuarn
- Wu Yang
- Wuttke Matthias
- Xia Rui
- Xie Tian
- Xu Huichun
- Yajnik Chittaranjan S
- Yamamoto Ken
- Yang Jian
- Yang Jingyun
- Yao Jie
- Yengo Loïc
- Yin Xianyong
- Yokota Mitsuhiro
- Young Hannah
- Young Kristin L
- Yousri Noha A
- Yu Lei
- Yuan Jian-Min
- Zeggini Eleftheria
- Zemel Babette S
- Zeng Lingyao
- Zhang Weihua
- Zhang Xinyuan
- Zhao Jing-Hua
- Zhao Wei
- Zheng Wei
- Zhou Wei
- Zhu Xiaofeng
- Zimmermann Martina E
- Zmuda Joseph M
- Zoledziewska Magdalena
- Zonderman Alan B
- Zwart John-Anker
- Åsvold Bjørn Olav
- Publication venue
- Nature
- Publication date
- 01/01/2022
- Field of study
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel2) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries