9 research outputs found
The Key to Survival
- Author
- Publication venue
- U.S. Naval War College Digital Commons
- Publication date
- 16/05/2018
- Field of study
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
- Author
- A Biffi
- A David Smith
- A Martinez
- AI Ivanov
- AJ Myers
- Alberto Pilotto
- Alex Richards
- Alexandra Stretton
- Alexis Brice
- Alison M Goate
- AM Saunders
- Ammar Al-Chalabi
- Amy Gerrish
- Ana Frank-Garcia
- Andrew B Singleton
- Andrew McQuillin
- Anita L DeStefano
- Annette L Fitzpatrick
- Annick Alpérovitch
- Aoibhinn Lynch
- AW Jehle
- BE Stranger
- Beatrice Arosio
- Benedetta Nacmias
- Benjamin Genier-Boley
- Bernadette McGuinness
- Brian Lawlor
- Britta Schürmann
- Carlos Cruchaga
- Carol Brayne
- Caroline Widdowson
- Caterina Riehle
- Charlene Thomas
- Christine Van Broeckhoven
- Christophe Tzourio
- Christopher E Shaw
- Claudine Berr
- Clive Holmes
- Cornelia M van Duijn
- D Harold
- Dan Rujescu
- Daniela Galimberti
- David C Rubinsztein
- David Craig
- David Mann
- Davide Seripa
- Denise Harold
- Dennis W Dickson
- Diana Zelenika
- Didier Hannequin
- DK Lynch
- Dobril Ivanov
- Dominique Campion
- Donald Warden
- Eckart Rüther
- Eliecer Coto
- Elio Scarpini
- Elisa Porcellini
- EM Reiman
- Emma R L C Vardy
- Federico Licastro
- Florence Pasquier
- Francesco Panza
- Frank Jessen
- G Jun
- G McKhann
- Gabriele Siciliano
- Gill Livingston
- Giorgio Annoni
- Gordon Wilcock
- H Tateno
- H-Erich Wichmann
- Harald Hampel
- Heike Kölsch
- Helen Beaumont
- Hendrik van den Bussche
- Hilkka Soininen
- Hreinn Stefansson
- Hugh Gurling
- I Pe'er
- IA Adzhubei
- Ignacio Mateo
- Ina Giegling
- Isabella Heuser
- Jacques Epelbaum
- Jade Chapman
- Jan O Aasly
- Jaspreet Singh Pahwa
- JC Lambert
- Jean-Charles Lambert
- Jean-François Dartigues
- Jens Wiltfang
- JJ Corneveaux
- Johannes Kornhuber
- John C Morris
- John Collinge
- John Gallacher
- John Hardy
- John Powell
- John S K Kauwe
- Jon Snædal
- JP Kinet
- JR Gibbs
- Julie Williams
- Kari Stefansson
- Karl-Heinz Jöckel
- Karolien Bettens
- Kevin Mayo
- Kevin Morgan
- Kimberley Dowzell
- KO Lai
- Kristel Sleegers
- Kristelle S Brown
- L Bertram
- Lenore J Launer
- Lesley Jones
- Lutz Frölich
- M Arfan Ikram
- M Gatz
- Magda Tsolaki
- Manuel Mayhaus
- Marc Delepine
- Maria Barcikowska
- Maria J Bullido
- Marian L Hamshere
- Mark Lathrop
- Markus M Nöthen
- Martin Dichgans
- Martin Rossor
- Matthias Riemenschneider
- MG Coulthard
- Michael Gill
- Michael Hüll
- Michael J Owen
- Michael Krawczak
- Michael O'Donovan
- Michelangelo Mancuso
- Michelle K Lupton
- Mikko Hiltunen
- Minerva M Carrasquillo
- ML Dustin
- MM Carrasquillo
- Monique M B Breteler
- Neill R Graff-Radford
- Nicholas J Bass
- Nick C Fox
- Nicola Jones
- Nigel M Hooper
- Norman Klopp
- Olivier Hanon
- Onofre Combarros
- Oscar Lopez
- Palmi V Jonsson
- Panagiotis Deloukas
- Paola Bossù
- Paola Piccardi
- Paolo Bosco
- Patricia Friedrich
- Patrick G Kehoe
- Paul Hollingworth
- Peter A Holmans
- Peter A Passmore
- Peter P De Deyn
- Petra Nowotny
- Petroula Proitsi
- Philippe Amouyel
- PR Crocker
- Q Zhang
- RC Petersen
- Rebecca Sims
- Reiner Heun
- Rhian Gwilliam
- Richard Abraham
- Rita Guerreiro
- Ronald C Petersen
- S Nicolhaus
- S Seshadri
- Sandro Sorbi
- Sebastiaan Engelborghs
- Seth Love
- Sigrid B Sando
- Sigurbjörn Björnsson
- Simon Lovestone
- Simon Mead
- SL Duffy
- SS Mirra
- Stacy Steinberg
- Stefan Schreiber
- Stefan Wagenpfeil
- Stephen Todd
- Steven G Younkin
- Sudha Seshadri
- Susanne Moebus
- T Yamazaki
- Thomas M Feulner
- Thomas W Mühleisen
- Thorlakur Jonsson
- V Shane Pankratz
- Valentina Moskvina
- Victoria Alvarez
- Vincent Chouraki
- Vincenzo Solfrizzi
- Wolfgang Maier
- WS Kim
- WS Kim
- WS Kim
- Y Liang
- Zbigniew K Wszolek
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/05/2011
- Field of study
We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P ≤ 1 × 10−5. We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10−17; including ADGC data, meta P = 5.0 × 10−21) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10−14; including ADGC data, meta P = 1.2 × 10−16) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10−4; including ADGC data, meta P = 8.6 × 10−9), CD33 (GERAD+, P = 2.2 × 10−4; including ADGC data, meta P = 1.6 × 10−9) and EPHA1 (GERAD+, P = 3.4 × 10−4; including ADGC data, meta P = 6.0 × 10−10)
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
- Author
- Abner Erin
- Adams Hieab H
- Adams Perrie M.
- Aguilar Miquel
- Ahmad Shahzad
- Al-Chalabi Ammar
- Albert Marilyn S.
- Albin Roger L.
- Allen Mariet
- Alvarez Victoria
- Amin Najaf
- Amouyel Philippe
- Apostolova Liana G.
- Arcaro Marina
- Arnold Steven E.
- Aspelund Thor
- Asthana Sanjay
- Atwood Craig S.
- Bacq Delphine
- Badarinarayan Nandini
- Baldwin Clinton T.
- Barber Imelda S.
- Barber Robert C.
- Barnes Lisa L.
- Barral Sandra
- Beach Thomas G.
- Becker James T.
- Beecham Gary W.
- Beekly Duane
- Behrens Timothy W.
- Beiser Alexa S.
- Bellenguez Céline
- Benito Yoland Aladro
- Bennett David A.
- Berr Claudine
- Bigio Eileen H.
- Bird Thomas D.
- Bis Joshua C.
- Blacker Deborah
- Blesa Rafael
- Boada Merce
- Boccardi Virginia
- Boerwinkle Eric
- Boeve Bradley F.
- Boland Anne
- Bonuccelli Ubaldo
- Bosco Paolo
- Bossù Paola
- Bowen James D.
- Boxer Adam
- Braae Anne
- Braddel Amy
- Bras Jose
- Brayne Carol
- Brice Alexis
- Brody Jennifer A
- Brookes Keeley
- Brown Kristelle
- Brundin Rosemarie
- Bruni Amalia Cecilia
- Bullido María J.
- Burgess Jeremy D.
- Burke James R.
- Burns Jeffrey M.
- Buxbaum Joseph D.
- Caffarra Paolo
- Cairns Nigel J.
- Caltagirone Carlo
- Campion Dominique
- Cantwell Laura B.
- Cao Chuanhai
- Carlson Chris S.
- Carlsson Cynthia M.
- Carney Regina M.
- Carrasquillo Minerva M.
- Carrell David
- Carroll Steven L.
- Cecchetti Roberta
- Chakrabarty Paramita
- Chapman Jade
- Chen Yuning
- Choi Seung-Hoan
- Chouraki Vincent
- Chui Helena C.
- Ciaramella Antonio
- Clarimón Jordi
- Clark David G.
- Collinge John
- Combarros Onofre
- Concari Letizia
- Corcoran Chris
- Coto Eliecer
- Craig David
- Crane Paul K.
- Cribbs David H.
- Crocco Elizabeth A.
- Cruchaga Carlos
- Cupidi Chiara
- Cupples L Adrienne
- Daniele Antonio
- Daniilidou Makrina
- Dartigues Jean-François
- De Deyn Peter P.
- De Jager Philip L
- Decarli Charles
- Deleuze Jean-François
- Denning Nicola
- Derbois Céline
- Dermecourt Vincent
- Destefano Anita L.
- Diaz Carolina Ceballos
- Dichgans Martin
- Dick Malcolm
- Dickson Dennis W
- Dombroski Beth
- Doody Rachelle S.
- Duara Ranjan
- Dubois Bruno
- Dufouil Carole
- Dulary Cécile
- Dunstan Melanie
- Dupuis Josée
- Eiriksdottir Gudny
- Emilsson Valur
- Engelborghs Sebastien
- Epelbaum Jacques
- Ertekin-Taner Nilufer
- Escott-Price Valentina
- Evans Denis A.
- Faber Kelley M.
- Fairchild Thomas J.
- Fairén Mònica Díez
- Fallon Kenneth B.
- Fardo David W.
- Farlow Martin R.
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernadez Carmen Muñoz
- Ferris Steven
- Fievet Nathalie
- Fitzpatrick Annette L.
- Fornage Myriam
- Foroud Tatiana M.
- Forsell Charlotte
- Forstner Andreas J.
- Fortea Juan
- Fox Nick C.
- Frank-García Ana
- Fratiglioni Laura
- Frosch Matthew P.
- Funk Cory C.
- Galasko Douglas R.
- Galimberti Daniela
- Gallo Maura
- Garcia Florentino Sanchez
- Garcia Melissa E.
- Garzia Fabienne
- Gearing Marla
- Gerrish Amy
- Geschwind Daniel H.
- Ghetti Bernardino
- Giedraitis Vilmantas
- Giegling Ina
- Gilbert John R.
- Gill Michael
- Goate Alison M.
- Golamaully Feroze
- Golde Todd E.
- Graff Caroline
- Graff-Radford Neill R.
- Graham Robert R
- Green Robert C.
- Grenier-Boley Benjamin
- Grove Megan L.
- Growdon John H.
- Gu Wei
- Gudnason Vilmundur
- Guerreiro Rita
- Haapasalo Annakaisa
- Haines Jonathan L.
- Hakonarson Hakon
- Hamilton Ronald L.
- Hamilton-Nelson Kara L.
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
- Hardy John
- Harold Denise
- Harrell Lindy E.
- Hartmann Annette M.
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Henández Isabel
- Herms Stefan
- Heun Reinhard
- Hill Matt
- Hiltunen Mikko
- Himali Jayanadra J.
- Hodges Angela
- Hoffmann Per
- Hofman Albert
- Holmes Clive
- Honig Lawrence S.
- Huebinger Ryan M.
- Huentelman Matthew J.
- Hughes Joseph T.
- Hulette Christine M.
- Hyman Bradley T.
- Ikram M Arfan
- Ingelsson Martin
- Jakobsdottir Johanna
- Jarvik Gail P.
- Jessen Frank
- Jian Xueqiu
- Jin Lee-Way
- Johnston Janet
- Jones Lesley
- Jr W T Longstreth
- Jun Gyungah
- Kamboh M Ilyas
- Karydas Anna
- Katz Mindy J.
- Kauwe John Keoni
- Kaye Jeffrey A.
- Keene C Dirk
- Keller Lina
- Kilander Lena
- Kim Ronald
- Kinhult-Stählbom Anne
- Kloszewska Iwona
- Koivisto Anne Maria
- Kornhuber Johannes
- Kowall Neil W.
- Kramer Joel H.
- Kukull Walter A.
- Kunkle Brian W.
- Kuzma Amanda B.
- Laferla Frank M.
- Lah James J.
- Lambert Jean-Charles
- Lannfelt Lars
- Larson Eric B.
- Lawlor Brian
- Leber Markus
- Leverenz James B.
- Levey Allan I.
- Levy Daniel
- Li Ge
- Li Hongdong
- Li Shuo
- Lieberman Andrew P.
- Lilius Lena
- Lin Honghuang
- Lipton Richard B.
- Lleó Alberto
- Lopez Oscar L.
- Lord Jenny
- Lovestone Simon
- Lunetta Kathryn L.
- Lupton Michelle K.
- Lyketsos Constantine G.
- Lynch Aoibhinn
- Maier Wolfgang
- Majounie Elisa
- Malamon John
- Maletta Raffaele Giovanni
- Mancuso Michelangelo
- Marshall Rachel
- Marson Daniel C.
- Martin Eden R.
- Martiniuk Frank
- Mash Deborah C.
- Masliah Eliezer
- Masullo Carlo
- Mayeux Richard
- Mayhaus Manuel
- McCormick Wayne C.
- McCurry Susan M.
- McDavid Andrew N.
- McGuinness Bernadette
- McKee Ann C.
- Mead Simon
- Mecocci Patrizia
- Medway Christopher
- Meggy Alun
- Mesulam Marsel
- Miller Bruce L.
- Miller Carol A.
- Miller Joshua W.
- Moebus Susanne
- Montine Thomas J.
- Moreno-Grau Sonia
- Morgan Kevin
- Morgan Taniesha
- Morris John C.
- Mosley Thomas H.
- Mukherjee Shubhabrata
- Munger Ron
- Murrell Jill R.
- Myers Amanda J.
- Nacmias Benedetta
- Naj Adam C
- Naranjo Maria Candida Deniz
- Norton Maria
- Nöthen Markus M.
- O'Bryant Sid
- O'Donnell Christopher J.
- O'Donovan Michael C.
- Olaso Robert
- Olichney John M.
- Orfei Maria Donata
- Ortega-Cubero Sara
- Owen Michael J.
- Pankratz Vernon S.
- Panza Francesco
- Parisi Joseph E.
- Pasquier Florence
- Passmore Peter
- Pastor Pau
- Patel Yogen
- Paulson Henry L.
- Pericak-Vance Margaret A.
- Perry William
- Peskind Elaine
- Peters Oliver
- Petersen Ronald C.
- Pichler Sabrina
- Pierce Aimee
- Pilotto Alberto
- Poon Wayne W.
- Potter Huntington
- Powell John
- Price Nathan D.
- Proitsi Petra
- Psaty Bruce M.
- Qu Liming
- Quinn Joseph F.
- Raj Ashok
- Ramirez Alfredo
- Raskind Murray
- Raybould Rachel
- Reiman Eric M.
- Reisberg Barry
- Reisch Joan S.
- Reitz Christiane
- Riedel-Heller Steffi
- Riemenschneider Matthias
- Ringman John M.
- Ritchie Karen
- Rivadeneira Fernando
- Roberson Erik D.
- Rogaeva Ekaterina
- Rosen Howard J.
- Rosenberg Roger N.
- Rotter Jerome I.
- Royall Donald R.
- Rubinsztein David C
- Ruiz Agustin
- Rujescu Dan
- Sacchinelli Eleonora
- Sager Mark A.
- Sano Mary
- Satizabal Claudia L.
- Saykin Andrew J.
- Scarpini Elio
- Schellenberg Gerard D.
- Scherer Martin
- Schmidt Helena
- Schmidt Reinhold
- Schneider Julie A.
- Schneider Lon S.
- Seeley William W.
- Septier Gislain
- Seripa Davide
- Serpente Maria
- Seshadri Sudha
- Shaw Christopher E.
- Sims Rebecca
- Sleegers Kristel
- Smith Albert V.
- Smith Amanda G.
- Soininen Hilkka
- Solfrizzi Vincenzo
- Sonnen Joshua A.
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spalletta Gianfranco
- Spina Salvatore
- Squassina Alessio
- St George-Hyslop Peter
- Stern Robert A.
- Sussams Rebecca
- Swerdlow Russell H.
- Sánchez-Juan Pascual
- Tanzi Rudolph E.
- Tarraga Lluis
- Taylor Sarah
- Thomas Charlene
- Thomas Rhodri
- Thonberg Hakan
- Thornton-Wells Tricia A.
- Todd Stephen
- Trojanowski John Q.
- Troncoso Juan C.
- Tschanz Joann
- Tsolaki Magda
- Tsuang Debby W.
- Turton James
- Tzourio Christophe
- Tzourio Christophe
- Uitterlinden Andre G.
- Uphill James
- Urbano Maria
- Valladares Otto
- Van Broeckhoven Christine
- Van Deerlin Vivianna M.
- Van Der Lee Sven J
- Van Duijn Cornelia M.
- Van Eldik Linda J.
- Vandenberghe Rik
- Vardarajan Badri N.
- Vellas Bruno
- Vinters Harry V.
- Vonsattel Jean Paul
- Vronskaya Maria
- Wallon David
- Wang Li-San
- Wang Xue
- Weintraub Sandra
- Welsh-Bohmer Kathleen A.
- White Charles C.
- Whitehead Patrice
- Wilhelmsen Kirk C.
- Williams Julie
- Williamson Jennifer
- Wingo Thomas S.
- Winslow Ashley R.
- Wolters Frank J
- Woltjer Randall L.
- Wright Clinton B.
- Wu Chuang-Kuo
- Yang Qiong
- Younkin Steven G.
- Yu Chang-En
- Yu Lei
- Zhao Yi
- Publication venue
- Publication date
- 01/01/2017
- Field of study
We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1×10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5×10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38×10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56×10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55×10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development
A novel Alzheimer disease locus located near the gene encoding tau protein
- Author
- A Boland
- A C Naj
- A David Smith
- A Hofman
- A L Destefano
- A L Fitzpatrick
- A M Goate
- A R Laza
- A R Winslow
- A Ramirez
- A V Smith
- Adam Boxer
- Aimee Pierce
- Alberto Llèo
- Alberto Pilotto
- Alexa Beiser
- Alexandra Stretton
- Alexis Brice
- Allan I Levey
- Amanda G Smith
- Amanda J Myers
- Amanda Partch
- Ammar Al-Chalabi
- Amy Gerrish
- Ana Mauleón
- Andre G Uitterlinden
- Andrew B Singleton
- Andrew J Saykin
- Andrew McQuillin
- Andrew N McDavid
- Andrew P Lieberman
- André Lacour
- Angharad Morgan
- Ann C McKee
- Anna Karydas
- Anna M Toeglhofer
- Anna Maria Töglhofer
- Annick Alpérovitch
- Anthony Bayer
- Antonia Germanou
- Antonio González-Perez
- Aoibhinn Lynch
- Ashok Raj
- B Grenier-Boley
- B M Psaty
- B W Kunkle
- Badri N Vardarajan
- Barry Reisberg
- Benedetta Nacmias
- Bernadette McGuinness
- Bernardino Ghetti
- Bradley F Boeve
- Bradley T Hyman
- Brian Lawlor
- Britta Schürmann
- Bruce L Miller
- C A Ibrahim-Verbaas
- C Bellenguez
- C Berr
- C Brayne
- C Cruchaga
- C Dufouil
- C Holmes
- C M van Duijn
- C Tzourio
- C Van Broeckhoven
- Carlos Cruchaga
- Carol A Miller
- Caroline Graff
- Chang-En Yu
- Charlene Thomas
- Charles DeCarli
- Chiao-Feng Lin
- Chris S Carlson
- Christiane Reitz
- Christine Herold
- Christine M Hulette
- Christopher E Shaw
- Christopher Medway
- Chuang-Kuo Wu
- Chuanhai Cao
- Claudia Satizabal
- Clinton B Wright
- Clinton T Baldwin
- Constantine G Lyketsos
- Craig S Atwood
- Cynthia M Carlsson
- D A Bennett
- D Beekly
- D Campion
- D Evans
- D Hannequin
- D Harold
- D Rujescu
- D Zelenika
- Daniel C Marson
- Daniel H Geschwind
- Daniela Galimberti
- Daniilidou Makrina
- David C Rubinsztein
- David Craig
- David G Clark
- David H Cribbs
- David Mann
- David Wallon
- Davide Seripa
- DClin Psy
- Debby W Tsuang
- Deborah Blacker
- Deborah C Mash
- Dennis W Dickson
- Dennis W Dickson
- Despoina Avramidou
- Dmitriy Drichel
- Donald R Royall
- Donald Warden
- Douglas R Galasko
- E B Larson
- E M Reiman
- E R Martin
- Edward H Koo
- Eileen H Bigio
- Ekaterina Rogaeva
- Elaine Peskind
- Eliecer Coto
- Eliezer Masliah
- Elio Scarpini
- Elizabeth A Crocco
- Elizabeth Fisher
- Elizabeth Head
- Emma Vardy
- Eric Boerwinkle
- Erik D Roberson
- F Pasquier
- F Yesim Demirci
- Fernando Rivadeneira
- Florentino Sanchez Garcia
- Francesco Panza
- Francisco J Morón
- Frank Jessen
- Frank M LaFerla
- Frank Martiniuk
- G D Schellenberg
- G Eiriksdottir
- G Jun
- G W Beecham
- Gail P Jarvik
- Ge Li
- Gerhard Ransmayr
- Giancarlo Russo
- Gianfranco Spalletta
- Gill Livingston
- Gina Bisceglio
- Gordon Wilcock
- Gregory A Jicha
- H Hampel
- H Schmidt
- H-Erich Wichmann
- Hakon Hakonarson
- Harriet Oldham
- Harry V Vinters
- Heike Kölsch
- Helena C Chui
- Hendrik van den Bussche
- Henry L Paulson
- Hlikka Soininen
- Howard J Rosen
- Hugh Gurling
- Huntington Potter
- Ignacio Mateo
- Isabel Hernández
- Isabella Heuser
- J C Bis
- J Chung
- J D Buxbaum
- J F Powell
- J Hardy
- J I Rotter
- J Jakobsdóttir
- J L Haines
- J R Wendland
- J S K Kauwe
- J Williams
- J-C Lambert
- J-F Dartigues
- Jacques Epelbaum
- Jade Chapman
- James B Leverenz
- James D Bowen
- James J Lah
- James R Burke
- James T Becker
- James T Becker
- James Turton
- James Uphill
- Jan Bressler
- Janet A Johnston
- Jason Corneveaux
- Jason D Warren
- Jean Paul Vonsattel
- Jeffrey A Kaye
- Jennifer Williamson
- Jenny Lord
- Jens Wiltfang
- Jill R Murrell
- Joan S Reisch
- Joel H Kramer
- Johannes Kornhuber
- John C Morris
- John Collinge
- John Gallacher
- John H Growdon
- John Hardy
- John M Olichney
- John M Ringman
- John Q Trojanowski
- John R Gilbert
- John SK Kauwe
- Jonathan D Glass
- Jonathan M Schott
- Jordi Clarimon
- Josef J M Marksteiner
- Joseph E Parisi
- Joseph F Quinn
- Joshua A Sonnen
- Joshua W Miller
- Juan C Troncoso
- Julie A Schneider
- K C Wilhelmsen
- K L Hamilton-Nelson
- K L Lunetta
- K Morgan
- Karl-Heinz Jöckel
- Karolien Bettens
- Kathleen A Welsh-Bohmer
- Kelley M Faber
- Kenneth B Fallon
- Kenneth Rice
- Kevin Mayo
- Kristel Sleegers
- Kristelle Brown
- L A Farrer
- L B Cantwell
- L J Launer
- L Jones
- L Letenneur
- L Tárraga
- L-S Wang
- Lars Lannfelt
- Laura Fratiglioni
- Lawrence S Honig
- Lee-Way Jin
- Lei Yu
- Lewis H Kuller
- Li Ma
- Liana G Apostolova
- Lina Keller
- Linda J Van Eldik
- Lindy E Harrell
- Lisa L Barnes
- Lon S Schneider
- Lutz Frölich
- M A Ikram
- M A Nalls
- M A Pericak-Vance
- M Boada
- M C O'Donovan
- M Carasquillo
- M Gill
- M I Kamboh
- M L Dunstan
- M Lathrop
- M M Nöthen
- M Vronskaya
- Magda Tsolaki
- Maitee Rosende Roca
- Malcolm Dick
- Manuel Mayhaus
- Marc Delepine
- Maria Bullido
- Maria Candida Deniz Naranjo
- Maria del Zampo
- Maria Koutroumani
- Marilyn S Albert
- Mark A Sager
- Marla Gearing
- Marsel Mesulam
- Martin Dichgans
- Martin Ingelsson
- Martin R Farlow
- Martin Rossor
- Mary Sano
- Matthew J Huentelman
- Matthew P Frosch
- Matthias Riemenschneider
- Michael Hüll
- Michael J Owen
- Michael Nalls
- Michelangelo Mancuso
- Michelle Lupton
- Michjael M Barmada
- Mikko Hiltunen
- Minerva M Carrasquillo
- Montserrat Alegret
- Murray Raskind
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- Stuart Pickering-Brown
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- Wendy J Mack
- William Perry
- William T Longstreth Jr
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 17/03/2015
- Field of study
This is the author accepted manuscript. The final version is available from the publisher via the DOI in this recordAPOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ε4+ (10 352 cases and 9207 controls) and APOE ε4- (7184 cases and 26 968 controls) subgroups as well as in the total sample testing for interaction between a single-nucleotide polymorphism (SNP) and APOE ε4 status. Suggestive associations (P<1 × 10-4) in stage 1 were evaluated in an independent sample (stage 2) containing 4203 subjects (APOE ε4+: 1250 cases and 536 controls; APOE ε4-: 718 cases and 1699 controls). Among APOE ε4- subjects, novel genome-wide significant (GWS) association was observed with 17 SNPs (all between KANSL1 and LRRC37A on chromosome 17 near MAPT) in a meta-analysis of the stage 1 and stage 2 data sets (best SNP, rs2732703, P=5·8 × 10-9). Conditional analysis revealed that rs2732703 accounted for association signals in the entire 100-kilobase region that includes MAPT. Except for previously identified AD loci showing stronger association in APOE ε4+ subjects (CR1 and CLU) or APOE ε4- subjects (MS4A6A/MS4A4A/MS4A6E), no other SNPs were significantly associated with AD in a specific APOE genotype subgroup. In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6 × 10-7) is noteworthy, because TMEM106B variants have previously been associated with risk of frontotemporal dementia. Expression quantitative trait locus analysis revealed that rs113986870, one of the GWS SNPs near rs2732703, is significantly associated with four KANSL1 probes that target transcription of the first translated exon and an untranslated exon in hippocampus (P≤1.3 × 10-8), frontal cortex (P≤1.3 × 10-9) and temporal cortex (P≤1.2 × 10-11). Rs113986870 is also strongly associated with a MAPT probe that targets transcription of alternatively spliced exon 3 in frontal cortex (P=9.2 × 10-6) and temporal cortex (P=2.6 × 10-6). Our APOE-stratified GWAS is the first to show GWS association for AD with SNPs in the chromosome 17q21.31 region. Replication of this finding in independent samples is needed to verify that SNPs in this region have significantly stronger effects on AD risk in persons lacking APOE ε4 compared with persons carrying this allele, and if this is found to hold, further examination of this region and studies aimed at deciphering the mechanism(s) are warranted
New insights into the genetic etiology of Alzheimer’s disease and related dementias
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- Aaltonen L.
- Aaltonen V.
- Aarno Palotie
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- Suzanne Craft
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- Urho Kujala
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- Uusitalo-Järvinen H.
- Vacca A.
- Vaclav Matoska
- Vainio S.
- Valentina Ciullo
- Valeria Cores
- Valero S.
- Valladares O.
- Valladares O.
- Valory Pavlik
- Valtteri Julkunen
- van Adelsberg J.
- Van Deerlin V. M.
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- van der Flier W. M.
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- van Swieten J.
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- Vandenberghe R.
- Vardarajan B. N.
- Vardy E.
- Vargas L.
- Vassar R.
- Veikko Salomaa
- Veli-Matti Kosma
- Venkat Subramaniam Rathinakannan
- Verhey F.
- Vesa Aaltonen
- Vicente M. P.
- Victor W Henderson
- Victoria Fernandez-Hernandez
- Victoria Perez
- Victoriana Martínez
- Vidal J. -S.
- Vigo-Ortega R.
- Vilas R. H.
- Vinay Mehta
- Vincent Deramecourt
- Vincent Deramerourt
- Vincent Llorens
- Vinters H. V.
- Virolainen P.
- Vivancos L.
- Vivianna M Van Deerlin
- Vogelgsang J.
- Vojinovic D.
- Vonsattel J. -P.
- Voutilainen M.
- Vuokko Anttonen
- Vyhnalek M.
- Wadhawan S.
- Wagner M.
- Wallon D.
- Wang C.
- Wang L. -S.
- Wang R.
- Wang Y.
- Warden D.
- Waring J.
- Waring J.
- Warner N.
- Warren J. D.
- Waterworth D.
- Wayne C McCormick
- Wayne W Poon
- Weber H.
- Wei Gu
- Wei Zhou
- Weinhold L.
- Weinstein G.
- Weintraub S.
- Welsh-Bohmer K. A.
- Whelan C.
- Whitehead P. L.
- Wichmann H. -E.
- Wigmore E.
- Wijsman E. M.
- Wilcock G.
- Wilhelmsen K. C.
- Will S Bush
- William Kremen
- William Nash
- William W Seeley
- Williams A.
- Williams B.
- Williams D.
- Williams J.
- Williamson J.
- Wilms H.
- Wiltfang J.
- Windle G.
- Wingo T. S.
- Wisniewski T.
- Wittfeld K.
- Woltjer R. L.
- Wong R.
- Woods B.
- Woon M.
- Wright C. B.
- Wu C. -K.
- Wu Y.
- Xia T. -H.
- Xing Chen
- Xinli Hu
- Xiongwei Zhu
- Xu E.
- Xu F.
- Xuan Liu
- Yanbing Wang
- Yanek L.
- Yang Q.
- Yang Y.
- Yannakoulia M.
- Yaqub A.
- Yasaman Saba
- Yash Patel
- Yeunjoo E Song
- Yi Zhao
- Ying Wu
- Yoav Ben-Shlomo
- Yogen Patel
- Younkin S. G.
- Yu C. -E.
- Yu L.
- Yuanchao Zhang
- Yuk Yee Leung
- Yunfeng Huang
- Yunju Yang
- Zare H.
- Zdenka Pausova
- Zhang X.
- Zhang Y.
- Zhao Y.
- Zhao Y.
- Zhou W.
- Zhu C.
- Zhu X.
- Ziemann A.
- Zoia C. P.
- Zompo M. D.
- Zulaica M.
- Zulma Sevillano
- Álvarez V.
- Åsa Hedman
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A\u3b2, tau, immunity and lipid processing
- Author
- Abner Erin
- Adams Hieab H.
- Adams Perrie M.
- Ahmad Shahzad
- Al-Chalabi Ammar
- Albert Marilyn S.
- Albin Roger L.
- Allen Mariet
- Alvarez Ignacio
- Alvarez Victoria
- Amin Najaf
- Amlie-Wolf Alexandre
- Amouyel Phillippe
- Apostolova Liana G.
- Arnold Steven E.
- Aspelund Thor
- Asthana Sanjay
- Atwood Craig S.
- Avramidou Despoina
- Bacq Delphine
- Badarinarayan Nandini
- Baldwin Clinton T.
- Barber Robert C.
- Barnes Lisa L.
- Barral Sandra
- Bass Nicholas J.
- Bayer Anthony
- Beach Thomas G.
- Becker James T.
- Beecham Gary W.
- Beekly Duane
- Beiser Alexa S.
- Bellenguez Celine
- Ben-Shlomo Yoav
- Benito Yolanda A.
- Bennett David
- Berr Claudine
- Bigio Eileen H.
- Bird Thomas D.
- Bis Joshua C.
- Bisceglio Gina
- Blacker Deborah
- Boada Merce
- Boccardi Virginia
- Boerwinkle Eric
- Boeve Bradley F.
- Boland Anne
- Bonuccelli Ubaldo
- Bosco Paola
- Bossu Paola
- Bowen James D.
- Boxer Adam
- Bras Jose
- Brayne Carol
- Brice Alexis
- Brody Jennifer A.
- Brown Kristelle
- Brundin Rosemarie
- Bruni Amalia Cecilia
- Bullido Maria J.
- Burke James R.
- Burns Jeffrey M.
- Bush Will S.
- Butkiewicz Mariusz
- Buxbaum Joseph D.
- Caffarra Paolo
- Cairns Nigel J.
- Caltagirone Carlo
- Campion Dominique
- Cantwell Laura B.
- Cao Chuanhai
- Carlson Chris S.
- Carlsson Cynthia M.
- Carney Regina M.
- Carracedo Angel
- Carrasquillo Minerva M.
- Cecchetti Roberta
- Chen Yuning
- Choi Seung-Hoan
- Chouraki Vincent
- Chui Helena C.
- Ciaramella Antonio
- Clarimon Jordi
- Clarke Robert
- Collinge John
- Concari Letizia
- Corcoran Chris
- Coto Eliecer
- Craig David
- Crane Paul K.
- Cribbs David H.
- Crocco Elizabeth A.
- Cruchaga Carlos
- Cuccaro Michael L.
- Cupidi Chiara
- Cupples L. Adrienne
- Cushion Thomas D.
- Damotte Vincent
- Daniele Antonio
- Daniilidou Makrina
- Dartigues Jean-Francois
- De Deyn Peter Paul
- De Jager Phil L.
- de Rojas Itziar
- Debette Stphanie
- DeCarli Charles
- Del Zompo Maria
- Deleuze Jean-Francois
- Deloukas Panagiotis
- Denning Nicola
- Deramecourt Vincent
- DeStefano Anita L.
- Dichgans Martin
- Dick Malcolm
- Dickson Dennis W.
- Diez-Fairen Monica
- Dombroski Beth A.
- Doody Rachelle S.
- Drichel Dmitriy
- Duara Ranjan
- Dubois Bruno
- Dufouil Carole
- Eiriksdottir Gudny
- Engelborghs Sebastiaan
- Epelbaum Jacques
- Ertekin-Taner Nilifur
- Escott-Price Valentina
- Evans Denis A.
- Faber Kelley M.
- Fairchild Thomas J.
- Fallon Kenneth B.
- Fardo David W.
- Farlow Martin R.
- Farrer Lindsay A.
- Ferris Steven
- Feulner Thomas
- Fievet Nathalie
- Fin Bertrand
- Fisher Elizabeth
- Fitzpatrick Annette L.
- Fornage Myriam
- Foroud Tatiana M.
- Fox Nick C.
- Fratiglioni Laura
- Frisardi Vincenza
- Frizatti Aura
- Froelich Lutz
- Frosch Matthew P.
- Galasko Douglas R.
- Galimberti Daniela
- Gallacher John
- Gallo Maura
- Garcia Melissa E.
- Garnier Jean-Guillaume
- Garzia Fabienne
- Gearing Marla
- Germanou Antonia
- Gerrish Amy
- Geschwind Daniel H.
- Ghetti Bernardino
- Giedraitis Vilmantas
- Giegling Ina
- Gilbert John R.
- Gill Michael
- Gkatzima Olymbia
- Goate Alison M.
- Graff Caroline
- Graff-Radford Neill R.
- Green Robert C.
- Grenier-Boley Benjamin
- Growdon John H.
- Grozeva Detelina
- Gu Wei
- Gudnason Vilmundur
- Guerreiro Rita
- Gwilliam Rhian
- Haapasalo Annakaisa
- Haines Jonathan L.
- Hakonarson Hakon
- Hamilton Ronald L.
- Hamilton-Nelson Kara L.
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
- Hardy John
- Harold Denise
- Harrell Lindy E.
- Hartmann Annette M.
- Helisalmi Seppo
- Hernandez Isabel
- Heun Reinhard
- Heuser Isabella
- Hiltunen Mikko
- Himali Jayanadra J.
- Hodges Angela
- Hofer Edith
- Hoffmann Per
- Hollingworth Paul
- Holmans Peter A.
- Holmes Clive
- Honig Lawrence S.
- Hooper Nigel M.
- Huebinger Ryan M.
- Huell Michael
- Huentelman Matthew J.
- Hughes Joseph T.
- Hulette Christine M.
- Hyman Bradley T.
- Ikram M. Arfan
- Ingelsson Martin
- Jakobsdottir Johanna
- Jarvik Gail P.
- Jessen Frank
- Jian Xueqiu
- Jin Lee-Way
- Joeckel Karl-Heinz
- Johnston Janet A.
- Jones Lesley
- Jun Gyungah R.
- Kamboh M. Ilyas
- Karamujic-Comic Hata
- Karydas Anna
- Katz Mindy J.
- Kauwe John S. K.
- Kawalia Amit
- Kaye Jeffrey A.
- Keene C. Dirk
- Kehoe Patrick G.
- Keller Lina
- Kilander Lena
- Kim Ronald
- Klopp Norman
- Kloszewska Iwona
- Koelsch Heike
- Koivisto Anne Maria
- Kornhuber Johannes
- Koutroumani Maria
- Kowall Neil W.
- Kramer Joel H.
- Kukull Walter A.
- Kunkle Brian W.
- Kuzma Amanda B.
- LaFerla Frank M.
- Lah James J.
- Lambert Jean-Charles
- Lannfelt Lars
- Larson Eric B.
- Launer Lenore J.
- Lawlor Brian
- Leber Markus
- Leonenko Ganna
- Leverenz James B.
- Levey Allan, I
- Li Shuo
- Lieberman Andrew P.
- Lin Honghuang
- Lipton Richard B.
- Livingston Gill
- Lleo Alberto
- Longstreth W. T., Jr.
- Lopez Oscar L.
- Lord Jenny
- Love Seth
- Lovestone Simon
- Lunetta Kathryn L.
- Lupton Michelle K.
- Lyketsos Constantine G.
- Lynch Aoibhinn
- Ma Li
- Maier Wolfgang
- Malamon John
- Maletta Raffaele Giovanni
- Mancuso Michelangelo
- Mann David
- Marshall Rachel
- Marson Daniel C.
- Martin Eden R.
- Martiniuk Frank
- Mash Deborah C.
- Masliah Eliezer
- Masullo Carlo
- Mateo Ignacio
- Mayeux Richard
- Mayhaus Manuel
- Mayo Kevin
- McCormick Wayne C.
- McCurry Susan M.
- McDavid Andrew N.
- McGuinness Bernadette
- McKee Ann C.
- McQuillin Andrew
- Mead Simon
- Mecocci Patrizia
- Medway Christopher
- Meggy Alun
- Menzies Georgina E.
- Meslage Stphane
- Mesulam Marsel
- Miller Bruce L.
- Miller Carol A.
- Miller Joshua W.
- Moebus Susanne
- Montine Thomas J.
- Moreno-Grau Sonia
- Morgan Kevin
- Morgan Taniesha
- Morris John
- Morris John C.
- Mosley Thomas H.
- Moutet Marie-Laure
- Mukherjee Shubhabrata
- Munger Ron
- Munoz-Fernadez Carmen
- Myers Amanda J.
- Nacmias Benedetta
- Naj Adam C.
- Naranjo Maria Candida Deniz
- Nicolas Gael
- Noethen Markus M.
- O'Bryant Sid
- O'Donovan Michael C.
- Olaso Robert
- Olichney John M.
- Orellana Adelina
- Orfei Maria Donata
- Owen Michael J.
- Panza Francesco
- Parisi Joseph E.
- Pasquier Florence
- Passmore Peter
- Pastor Pau
- Patel Yogen
- Paulson Henry L.
- Pericak-Vance Margaret A.
- Perry William R.
- Peskind Elaine
- Peters Oliver
- Petersen Ronald C.
- Pickering-Brown Stuart
- Pierce Aimee
- Pilotto Alberto
- Poon Wayne W.
- Potter Huntington
- Powell John F.
- Proitsi Petra
- Psaty Bruce M.
- Qu Liming
- Quinn Joseph F.
- Quintela Ines
- Raj Ashok
- Ramirez Alfredo
- Raskind Murray
- Raybould Rachel
- Real Luis M.
- Reiman Eric M.
- Reisberg Barry
- Reisch Joan S.
- Reitz Christiane
- Riedel-Heller Steffi
- Riemenschneider Matthias
- Ringman John M.
- Ritchie Karen
- Rivadeneira Fernando
- Roberson Erik D.
- Rodriguez-Rodriguez Eloy
- Rogaeva Ekaterina
- Roschupkin Gena
- Rosen Howard J.
- Rosenberg Roger N.
- Rossor Martin
- Rotter Jerome, I
- Royall Donald R.
- Rubinsztein David C.
- Ruiz Agustin
- Russo Giancarlo
- Ryan Natalie S.
- Saba Yasaman
- Sacchinelli Eleonora
- Sager Mark A.
- Salani Francesca
- Sanchez-Garcia Florentino
- Sanchez-Juan Pascual
- Sano Mary
- Sarnowski Chloe
- Saykin Andrew J.
- Scarpini Elio
- Schellenberg Gerard D.
- Scherer Martin
- Schmidt Helena
- Schmidt Reinhold
- Schneider Julie A.
- Schneider Lori S.
- Schott Jonathan M.
- Seeley William W.
- Seshadri Sudha
- Shaw Christopher E.
- Sims Rebecca
- Singleton Andrew B.
- Sleegers Kristel
- Slifer Susan
- Smith A. David
- Smith Albert, V
- Smith Amanda G.
- Soininen Hilkka
- Solfrizzi Vincenzo
- Song Yuenjoo
- Sonnen Joshua A.
- Sorbi Sandro
- Sordon Sabrina
- Spalletta Gianfranco
- Spina Salvatore
- Squassina Alessio
- St George-Hyslop Peter
- Stern Robert A.
- Sussams Rebecca
- Swerdlow Russell H.
- Tang Mitchell
- Tanzi Rudolph E.
- Tarraga Lluis
- Thonberg Hakan
- Trojanowski John Q.
- Troncoso Juan C.
- Tschanz JoAnn
- Tsolaki Magda
- Tsuang Debby W.
- Turton James
- Uitterlinden A. G. Andre
- Uphill James
- Valladares Otto
- Van Broeckhoven Christine
- Van Deerlin Vivianna M.
- van den Bussche Hendrik
- van der Lee Sven J.
- van Duijn Cornelia M.
- Van Eldik Linda J.
- Vance Jeffery M.
- Vandenberghe Rik
- Vardarajan Badri N.
- Vardy Emma
- Vellas Bruno
- Vinters Harry V.
- Voijnovic Dina
- Vonsattel Jean Paul
- Vronskaya Maria
- Wallon David
- Wang Li-San
- Warden Donald
- Warner Nick
- Warren Jason D.
- Weintraub Sandra
- Welsh-Bohmer Kathleen A.
- White Charles C.
- Whitehead Patrice
- Wichmann H-Erich
- Wilcock Gordon
- Wilhelmsen Kirk C.
- Williams Julie
- Williamson Jennifer
- Wiltfang Jens
- Wingo Thomas S.
- Woltjer Randall L.
- Wright Clinton B.
- Wu Chuang-Kuo
- Yang Qiong
- Younkin Steven G.
- Yu Chang-En
- Yu Lei
- Zhao Yi
- Publication venue
- Publication date
- 01/01/2019
- Field of study
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
- Author
- A Olmos-Alonso
- A Ruiz
- AC Naj
- Adam Boxer
- Adam C Naj
- Agustin Ruiz
- Aimee Pierce
- AL Richards
- Albert Hofman
- Albert V Smith
- Alberto Lleó
- Alberto Pilotto
- Alessio Squassina
- Alexa S Beiser
- Alexis Brice
- Alfredo Ramirez
- Alison M Goate
- Allan I Levey
- Alun Meggy
- Amalia Cecilia Bruni
- Amanda B Kuzma
- Amanda G Smith
- Amanda J Myers
- Ammar Al-Chalabi
- Amy Braddel
- Amy Gerrish
- Ana Frank-García
- Andre G Uitterlinden
- Andreas J Forstner
- Andrew J Saykin
- Andrew N McDavid
- Andrew P Lieberman
- Angela Hodges
- Anita L DeStefano
- Ann C McKee
- Anna Karydas
- Annakaisa Haapasalo
- Anne Boland
- Anne Braae
- Anne Kinhult-Stählbom
- Anne Maria Koivisto
- Annette L Fitzpatrick
- Annette M Hartmann
- Antonio Ciaramella
- Antonio Daniele
- Aoibhinn Lynch
- Ashley R Winslow
- Ashok Raj
- ASP Lim
- B Devlin
- B Howie
- Badri N Vardarajan
- Barry Reisberg
- Benedetta Nacmias
- Benjamin Grenier-Boley
- Bernadette McGuinness
- Bernardino Ghetti
- Beth Dombroski
- BN Vardarajan
- BN Vardarajan
- BP Fairfax
- Bradley F Boeve
- Bradley T Hyman
- Brian Lawlor
- Brian W Kunkle
- Bruce L Miller
- Bruce M Psaty
- Bruno Dubois
- Bruno Vellas
- C Cruchaga
- C Dirk Keene
- C Fuchsberger
- C Igartua
- C Schwab
- Carlo Caltagirone
- Carlo Masullo
- Carlos Cruchaga
- Carmen Muñoz Fernadez
- Carol A Miller
- Carol Brayne
- Carole Dufouil
- Carolina Ceballos Diaz
- Caroline Graff
- Chang-En Yu
- Charlene Thomas
- Charles C White
- Charles DeCarli
- Charlotte Forsell
- Chiara Cupidi
- Chiara Fenoglio
- Chris Corcoran
- Chris S Carlson
- Christiane Reitz
- Christine M Hulette
- Christine Van Broeckhoven
- Christophe Tzourio
- Christopher E Shaw
- Christopher J O'Donnell
- Christopher Medway
- Chuang-Kuo Wu
- Chuanhai Cao
- CJ Willer
- Claudia L Satizabal
- Claudine Berr
- Clinton B Wright
- Clinton T Baldwin
- Clive Holmes
- Constantine G Lyketsos
- Cornelia M van Duijn
- Cory C Funk
- Craig S Atwood
- Cynthia M Carlsson
- Cécile Dulary
- Céline Bellenguez
- Céline Derbois
- D Harold
- D Paris
- Dan Rujescu
- Daniel C Marson
- Daniel H Geschwind
- Daniel Levy
- Daniela Galimberti
- David A Bennett
- David C Rubinsztein
- David Carrell
- David Craig
- David G Clark
- David H Cribbs
- David Mann
- David W Fardo
- David Wallon
- Davide Seripa
- Debby W Tsuang
- Deborah Blacker
- Deborah C Mash
- Delphine Bacq
- Denis A Evans
- Denise Harold
- Dennis W Dickson
- Didier Hannequin
- Dominique Campion
- Donald R Royall
- Douglas R Galasko
- Duane Beekly
- Eden R Martin
- Eileen H Bigio
- Ekaterina Rogaeva
- Elaine Peskind
- Eleonora Sacchinelli
- Eliecer Coto
- Eliezer Masliah
- Elio Scarpini
- Elisa Majounie
- Elizabeth A Crocco
- Eric B Larson
- Eric Boerwinkle
- Eric M Reiman
- Erik D Roberson
- Erin Abner
- Fabienne Garzia
- Fernando Rivadeneira
- Feroze Golamaully
- Florence Pasquier
- Florentino Sanchez Garcia
- Francesco Panza
- Frank J Wolters
- Frank Jessen
- Frank M LaFerla
- Frank Martiniuk
- G Chan
- G Jun
- Gail P Jarvik
- Gary W Beecham
- Ge Li
- Gerard D Schellenberg
- Gianfranco Spalletta
- Gislain Septier
- Gudny Eiriksdottir
- Gyungah Jun
- H Neumann
- Hakan Thonberg
- Hakon Hakonarson
- Harald Hampel
- Harry V Vinters
- Helena C Chui
- Helena Schmidt
- Henry L Paulson
- Hieab H Adams
- Hilkka Soininen
- HM Wisniewski
- Hongdong Li
- Honghuang Lin
- Howard J Rosen
- Huntington Potter
- I Surakka
- I Tachmazidou
- Imelda S Barber
- Ina Giegling
- Isabel Henández
- Iwona Kloszewska
- J Hunkapiller
- J Wessel
- J Xing
- J-C Lambert
- J-C Lambert
- Jacques Epelbaum
- Jade Chapman
- James B Leverenz
- James D Bowen
- James J Lah
- James R Burke
- James T Becker
- James Turton
- James Uphill
- Janet Johnston
- Jayanadra J Himali
- JC Nolz
- JD Milner
- JD Ulrich
- Jean Paul Vonsattel
- Jean-Charles Lambert
- Jean-François Dartigues
- Jean-François Deleuze
- Jeffrey A Kaye
- Jeffrey M Burns
- Jennifer A Brody
- Jennifer Williamson
- Jenny Lord
- Jeremy D Burgess
- Jerome I Rotter
- JI Goldstein
- Jill R Murrell
- JK Pritchard
- Joan S Reisch
- JoAnn Tschanz
- Joel H Kramer
- Johanna Jakobsdottir
- Johannes Kornhuber
- John C Morris
- John Collinge
- John H Growdon
- John Hardy
- John Keoni Kauwe
- John M Olichney
- John M Ringman
- John Malamon
- John Morris
- John Powell
- John Q Trojanowski
- John R Gilbert
- Jonathan L Haines
- Jordi Clarimón
- Jose Bras
- Joseph D Buxbaum
- Joseph E Parisi
- Joseph F Quinn
- Joseph T Hughes
- Joshua A Sonnen
- Joshua C Bis
- Joshua W Miller
- Josée Dupuis
- JR Huyghe
- Juan C Troncoso
- Juan Fortea
- Julie A Schneider
- Julie Williams
- Kara L Hamilton-Nelson
- Karen Ritchie
- Kathleen A Welsh-Bohmer
- Kathryn L Lunetta
- Keeley Brookes
- Kelley M Faber
- Kenneth B Fallon
- Kevin Morgan
- Kirk C Wilhelmsen
- Kristel Sleegers
- Kristelle Brown
- L Adrienne Cupples
- Lars Lannfelt
- Laura B Cantwell
- Laura Fratiglioni
- Lawrence S Honig
- Lee-Way Jin
- Lei Yu
- Lena Kilander
- Lena Lilius
- Lenore J Launer
- Lesley Jones
- Letizia Concari
- Li-San Wang
- Liana G Apostolova
- Liming Qu
- Lina Keller
- Linda J Van Eldik
- Lindsay A Farrer
- Lindy E Harrell
- Lisa L Barnes
- Lluis Tarraga
- Lon S Schneider
- LS Perlmutter
- M Arfan Ikram
- M Bao
- M Gatz
- M Ilyas Kamboh
- Magda Tsolaki
- Makrina Daniilidou
- Malcolm Dick
- Manuel Mayhaus
- Margaret A Pericak-Vance
- Maria Candida Deniz Naranjo
- Maria Donata Orfei
- Maria Norton
- Maria Serpente
- Maria Urbano
- Maria Vronskaya
- Mariet Allen
- Marilyn S Albert
- Marina Arcaro
- Mark A Sager
- Markus Leber
- Markus M Nöthen
- Marla Gearing
- Marsel Mesulam
- Martin Dichgans
- Martin Ingelsson
- Martin R Farlow
- Martin Scherer
- Mary Sano
- María J Bullido
- Matt Hill
- Matthew J Huentelman
- Matthew P Frosch
- Matthias Riemenschneider
- Maura Gallo
- Megan L Grove
- Melanie Dunstan
- Melissa E Garcia
- Merce Boada
- Michael C O'Donovan
- Michael Gill
- Michael J Owen
- Michelangelo Mancuso
- Michelle K Lupton
- Mikko Hiltunen
- Mindy J Katz
- Minerva M Carrasquillo
- Miquel Aguilar
- MK Wetzel-Smith
- ML Grove
- MM Painter
- Murray Raskind
- MW Logue
- Myriam Fornage
- Mònica Díez Fairén
- N Patterson
- Najaf Amin
- Nandini Badarinarayan
- Nathalie Fievet
- Nathan D Price
- Neil W Kowall
- Neill R Graff-Radford
- Nick C Fox
- Nicola Denning
- Nigel J Cairns
- Nilufer Ertekin-Taner
- NJ Schork
- Oliver Peters
- Olivier Hanon
- Onofre Combarros
- Oscar L Lopez
- Oscar Sotolongo-Grau
- Otto Valladares
- P Hollingworth
- P Holmans
- P Yuan
- Paola Bossù
- Paolo Bosco
- Paolo Caffarra
- Paramita Chakrabarty
- Pascual Sánchez-Juan
- Patrice Whitehead
- Patrizia Mecocci
- Pau Pastor
- Paul K Crane
- Per Hoffmann
- Perrie M Adams
- Peter A Holmans
- Peter P De Deyn
- Peter Passmore
- Peter St George-Hyslop
- Petra Proitsi
- Philip L De Jager
- Philippe Amouyel
- PL De Jager
- Qiong Yang
- R Guerreiro
- R Rademakers
- R Talluri
- Rachel Marshall
- Rachel Raybould
- Rachelle S Doody
- Rafael Blesa
- Raffaele Giovanni Maletta
- Randall L Woltjer
- Ranjan Duara
- Rebecca Sims
- Rebecca Sussams
- Regina M Carney
- Reinhard Heun
- Reinhold Schmidt
- Rhodri Thomas
- Richard B Lipton
- Richard Mayeux
- Rik Vandenberghe
- Rita Guerreiro
- Robert A Stern
- Robert C Barber
- Robert C Green
- Robert Olaso
- Robert R Graham
- Roberta Cecchetti
- Roger L Albin
- Roger N Rosenberg
- Ron Munger
- Ronald C Petersen
- Ronald Kim
- Ronald L Hamilton
- RoseMarie Brundin
- Rudolph E Tanzi
- Russell H Swerdlow
- Ryan M Huebinger
- S Das
- S Hong
- S McCarthy
- S Sekino
- S Seshadri
- S Steinberg
- Sabrina Pichler
- Salvatore Spina
- Sandra Barral
- Sandra Weintraub
- Sandro Sorbi
- Sanjay Asthana
- Sara Ortega-Cubero
- Sarah Taylor
- SC Jin
- Sebastien Engelborghs
- Seppo Helisalmi
- Seung-Hoan Choi
- Shahzad Ahmad
- Shubhabrata Mukherjee
- Shuo Li
- Sid O'Bryant
- Simon Lovestone
- Simon Mead
- Sonia Moreno-Grau
- Stefan Herms
- Stefanie Heilmann-Heimbach
- Steffi Riedel-Heller
- Stephen Todd
- Steven E Arnold
- Steven Ferris
- Steven G Younkin
- Steven L Carroll
- Sudha Seshadri
- Susan M McCurry
- Susanne Moebus
- Sven J van der Lee
- T Jonsson
- T Jonsson
- T Kurosaki
- Taniesha Morgan
- Tatiana M Foroud
- Thomas D Bird
- Thomas G Beach
- Thomas H Mosley
- Thomas J Fairchild
- Thomas J Montine
- Thomas S Wingo
- Thor Aspelund
- Timothy W Behrens
- Todd E Golde
- Tricia A Thornton-Wells
- Ubaldo Bonuccelli
- V Escott-Price
- V Escott-Price
- Valentina Escott-Price
- Valur Emilsson
- Vernon S Pankratz
- Victoria Alvarez
- Vilmantas Giedraitis
- Vilmundur Gudnason
- Vincent Chouraki
- Vincent Dermecourt
- Vincenzo Solfrizzi
- Virginia Boccardi
- Vivianna M Van Deerlin
- W Bodmer
- W T Longstreth Jr
- Walter A Kukull
- Wayne C McCormick
- Wayne W Poon
- Wei Gu
- William Perry
- William W Seeley
- Wolfgang Maier
- Xue Wang
- Xueqiu Jian
- Y Lu
- Y Wang
- Y Wang
- Y Zhang
- Yi Zhao
- Yogen Patel
- Yoland Aladro Benito
- Yuning Chen
- Publication venue
- Nat Genet
- Publication date
- 01/01/2017
- Field of study
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10-14, OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
- Author
- A Biffi
- A David Smith
- A Martinez
- AI Ivanov
- AJ Myers
- Alberto Pilotto
- Alex Richards
- Alexandra Stretton
- Alexis Brice
- Alison M Goate
- AM Saunders
- Ammar Al-Chalabi
- Amy Gerrish
- Ana Frank-Garcia
- Andrew B Singleton
- Andrew McQuillin
- Anita L DeStefano
- Annette L Fitzpatrick
- Annick Alpérovitch
- Aoibhinn Lynch
- AW Jehle
- BE Stranger
- Beatrice Arosio
- Benedetta Nacmias
- Benjamin Genier-Boley
- Bernadette McGuinness
- Brian Lawlor
- Britta Schürmann
- Carlos Cruchaga
- Carol Brayne
- Caroline Widdowson
- Caterina Riehle
- Charlene Thomas
- Christine Van Broeckhoven
- Christophe Tzourio
- Christopher E Shaw
- Claudine Berr
- Clive Holmes
- Cornelia M van Duijn
- D Harold
- Dan Rujescu
- Daniela Galimberti
- David C Rubinsztein
- David Craig
- David Mann
- Davide Seripa
- Denise Harold
- Dennis W Dickson
- Diana Zelenika
- Didier Hannequin
- DK Lynch
- Dobril Ivanov
- Dominique Campion
- Donald Warden
- Eckart Rüther
- Eliecer Coto
- Elio Scarpini
- Elisa Porcellini
- EM Reiman
- Emma R L C Vardy
- Federico Licastro
- Florence Pasquier
- Francesco Panza
- Frank Jessen
- G Jun
- G McKhann
- Gabriele Siciliano
- Gill Livingston
- Giorgio Annoni
- Gordon Wilcock
- H Tateno
- H-Erich Wichmann
- Harald Hampel
- Heike Kölsch
- Helen Beaumont
- Hendrik van den Bussche
- Hilkka Soininen
- Hreinn Stefansson
- Hugh Gurling
- I Pe'er
- IA Adzhubei
- Ignacio Mateo
- Ina Giegling
- Isabella Heuser
- Jacques Epelbaum
- Jade Chapman
- Jan O Aasly
- Jaspreet Singh Pahwa
- JC Lambert
- Jean-Charles Lambert
- Jean-François Dartigues
- Jens Wiltfang
- JJ Corneveaux
- Johannes Kornhuber
- John C Morris
- John Collinge
- John Gallacher
- John Hardy
- John Powell
- John S K Kauwe
- Jon Snædal
- JP Kinet
- JR Gibbs
- Julie Williams
- Kari Stefansson
- Karl-Heinz Jöckel
- Karolien Bettens
- Kevin Mayo
- Kevin Morgan
- Kimberley Dowzell
- KO Lai
- Kristel Sleegers
- Kristelle S Brown
- L Bertram
- Lenore J Launer
- Lesley Jones
- Lutz Frölich
- M Arfan Ikram
- M Gatz
- Magda Tsolaki
- Manuel Mayhaus
- Marc Delepine
- Maria Barcikowska
- Maria J Bullido
- Marian L Hamshere
- Mark Lathrop
- Markus M Nöthen
- Martin Dichgans
- Martin Rossor
- Matthias Riemenschneider
- MG Coulthard
- Michael Gill
- Michael Hüll
- Michael J Owen
- Michael Krawczak
- Michael O'Donovan
- Michelangelo Mancuso
- Michelle K Lupton
- Mikko Hiltunen
- Minerva M Carrasquillo
- ML Dustin
- MM Carrasquillo
- Monique M B Breteler
- Neill R Graff-Radford
- Nicholas J Bass
- Nick C Fox
- Nicola Jones
- Nigel M Hooper
- Norman Klopp
- Olivier Hanon
- Onofre Combarros
- Oscar Lopez
- Palmi V Jonsson
- Panagiotis Deloukas
- Paola Bossù
- Paola Piccardi
- Paolo Bosco
- Patricia Friedrich
- Patrick G Kehoe
- Paul Hollingworth
- Peter A Holmans
- Peter A Passmore
- Peter P De Deyn
- Petra Nowotny
- Petroula Proitsi
- Philippe Amouyel
- PR Crocker
- Q Zhang
- RC Petersen
- Rebecca Sims
- Reiner Heun
- Rhian Gwilliam
- Richard Abraham
- Rita Guerreiro
- Ronald C Petersen
- S Nicolhaus
- S Seshadri
- Sandro Sorbi
- Sebastiaan Engelborghs
- Seth Love
- Sigrid B Sando
- Sigurbjörn Björnsson
- Simon Lovestone
- Simon Mead
- SL Duffy
- SS Mirra
- Stacy Steinberg
- Stefan Schreiber
- Stefan Wagenpfeil
- Stephen Todd
- Steven G Younkin
- Sudha Seshadri
- Susanne Moebus
- T Yamazaki
- Thomas M Feulner
- Thomas W Mühleisen
- Thorlakur Jonsson
- V Shane Pankratz
- Valentina Moskvina
- Victoria Alvarez
- Vincent Chouraki
- Vincenzo Solfrizzi
- Wolfgang Maier
- WS Kim
- WS Kim
- WS Kim
- Y Liang
- Zbigniew K Wszolek
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study