8 research outputs found
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
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
- Author
- Aarsland Dag
- Aarsland Dag
- Abdelnour Carla
- Abraham Richard
- Abraham Richard
- Adarmes-Gómez A.D.
- Adarmes-Gómez Ad
- Aguilera N.
- Aguilera Nuria
- Ahmad Shahzad
- Al-Chalabi Ammar
- Al-Chalabi Ammar
- Alarcon E.
- Alarcón-Martín E.
- Alarcón-Martín Emilio
- Alcolea Daniel
- Alegret M.
- Alegret Montserrat
- Alonso M.D.
- Alvarez Ignacio
- Alvarez Victoria
- Ambati Aditya
- Amer-Ferrer G.
- Amin Najaf
- Amouyel Philippe
- Amouyel Philippe
- Amouyel Phillippe
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Andreassen Ole A.
- Andreassen Ole A.
- Andreassen Ole A.
- Andreoni Simona
- Annuar Azlina Ahmad
- Antequera M.
- Anthoula Tsolaki
- Antikainen Riitta
- Antonell Anna
- Antúnez C.
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arfan Ikram M.
- Arias Pastor Alfonso
- Ariel Prestia Federico
- Armstrong Nicola J.
- Arosio Beatrice
- Arosio Beatrice
- Assogna Francesca
- Athanasiu Lavinia
- Athanasiu Lavinia
- Au Wing-Lok
- Bahrami Shahram
- Bailly Henri
- Banaj Nerisa
- Baquero M.
- Baquero Miquel
- Bass Nicholas J.
- Bass Nick
- Bastiani Patrizia
- Bayer Anthony
- Becker Tim
- Belezhanska Diyana
- Bellenguez Céline
- Bellenguez Céline
- Bellenguez Céline
- Belloy Michael E.
- Belén Pastor Ana
- Ben-Shlomo Yoav
- Benussi Alberto
- Benussi Luisa
- Benussi Luisa
- Bergh Sverre
- Bernal M.
- Bernardo-Harrington Mateus
- Berr Claudine
- Berr Claudine
- Besse Céline
- Bessi Valentina
- Binetti Giuliano
- Bizarro Alessandra
- Bjerke Maria
- Blennow Kaj
- Blesa R.
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- Boada Mercè
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- Boecker Henning
- Boland Anne
- Boland Anne
- Borroni Barbara
- Borroni Barbara
- Boschi Silvia
- Bosnes Ingunn
- Bossù Paola
- Brayne Carol
- Brayne Carol
- Bresner Catherine
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- Brookes Keeley J.
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- Buiza-Rueda D.
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- Bullido M.J.
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- Burholt Vanessa
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- Caffarra Paolo
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- Chao Yinxia
- Chapuis Julien
- Charbonnier Camille
- Chen Ling
- Chen Yongping
- Chene Geneviève
- Chew Elaine Guo Yan
- Chillotti Caterina
- Chipi Elena
- Chung Sun Ju
- Ciccone Simona
- Ciullo Valentina
- Claassen Jurgen A.H.R.
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- Costa Marcos R
- Costantini Emanuele
- Craig David
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- Cuesta Carolina
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Damotte Vincent
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- Dardiotis Efthimios
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- de Rojas I.
- de Rojas Itziar
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- Debette Stéphanie
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- Del Zompo Maria
- Deleuze Jean-François
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- Deloukas Panagiotis
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- den Bussche Hendrik
- Denning Nicola
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- Deramecourt Vincent
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- Dichgans Martin
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- Diego S.
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- Diehl-Schmid Janine
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- Dionigi Rossi Paolo
- Djurovic Srdjan
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- Dolores Alonso María
- Dowzell Kimberley
- Drichel Dmitriy
- Dubois Bruno
- Dufouil Carole
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- During Emmanuel
- Duron Emmanuelle
- Düzel Emrah
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- Epelbaum Jacques
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- Etchepareborda Ignacio
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- Ferrarese Carlo
- Ferreira Catarina B
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- Fievet Nathalie
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- Fin Bertrand
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- Gerrish Amy
- Gerrish Amy
- Ghanbari Mohsen
- Ghidoni Roberta
- Giedraitis Vilmantas
- Giedraitis Vilmantas
- Giegling Ina
- Giegling Ina
- Gill Michael
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- Giorgio Giaccone
- Goldhardt Oliver
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- González-Péerez A.
- González-Pérez Antonio
- Graff Caroline
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- Grande Giulia
- Green Emma
- Greicius Michael D.
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grimmer Timo
- Grünblatt Edna
- Grünblatt Edna
- Gu Wei
- Guerreiro Rita
- Guetta-Baranes Tamar
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- Gwilliam Rhian
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- Gómez-Garre P.
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- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Hampel Harald
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
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- Hardy John
- Hardy John
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- Harold Denise
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- Hartmann Annette M.
- Hartmann Annette M.
- Harwood Janet
- Hausner Lucrezia
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- He Zihuai
- Heilmann-Heimbach Stefanie
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- Helisalmi Seppo
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- Hernández Isabel
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- Heun Reinhard
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- Hevilla S.
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- Hodges Angela
- Hoffmann Per
- Hoffmann Per
- Hollingworth Paul
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- Holmes Clive
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- Holstege Henne
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- Hooper Nigel M.
- Hort Jakub
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- Huerto Vilas Raquel
- Hulsman Marc
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- Ignacio Bacha Juan
- Ignacio Brusco Luis
- Ikeuchi Takeshi
- Ingelsson Martin
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- Ingino Carlos
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- Janowitz Daniel
- Jansen Iris
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- Jeon Beom S.
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- Jürgen Deckert
- Kauwe John
- Kehoe Patrick
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- Kern Silke
- Khor Chiea Chuen
- Kilander Lena
- Kinhult Ståhlbom Anne
- Kivipelto Miia
- Kleineidam Luca
- Klopp Norman
- Kochen Silvia
- Koh Woon-Puay
- Kohler Eduardo
- Kohler Matias
- Koivisto Anne
- Kornhuber Johannes
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- Kosmidis Mary H.
- Kuulasmaa Teemu
- Kuulasmaa Teemu
- Kölsch Heike
- Küçükali Fahri
- Küçükali Fahri
- Laatikainen Tiina
- Labrador Espinosa M.A.
- Labrador Ma
- Lacidogna Giordano
- Lacour ndré
- Laczo Jan
- Lafuente A.
- Lafuente Asunción
- Lage C.
- Lage Carmen
- Lage Carmen
- Lambert Jean-Charles
- Lambert Jean-Charles
- Lambert Jean-Charles
- Laske Christoph
- Laukka Erika J
- Lauria Alessandra
- Lawlor Brian
- Lawlor Brian
- Le Guen Yann
- Lee Kun Ho
- Legaz A.
- Lehtisalo Jenni
- Lerch Ondrej
- Lian Michelle M.
- Lian Michelle Mulan
- Lim Jia Lun
- Lim Shen-Yang
- Lin Juei-Jueng
- Lin Ling
- Lindström Jaana
- Lis Palacio Dana
- Lisso Julieta
- Liu Chunfeng
- Liu Jianjun
- Livingston Gill
- Livingston Gill
- Lleó Alberto
- Lleóo A.
- Lord Jenny
- Love Seth
- Love Seth
- Lovestone Simon
- Lovestone Simon
- Luckcuck Lauren
- Luckcuck Lauren
- Luis Royo Jose
- Luo Guo
- Lupton Michelle
- Lupton Michelle
- Luís Royo Jose
- Lynch Aoibhinn
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- Lóopez de Munáin A.
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- Macias J.
- Macias-García D.
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- Macías Juan
- Magda Tsolaki
- Maier Wolfgang
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- Malik Rainer
- Mangialasche Francesca
- Mangone Carlos
- Mann David
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- Manzanares S.
- Mao Chengjie
- Marco Spallazzi
- Maria García-Alberca Jose
- Maroñas O.
- Marquié M.
- Marquié M.
- Marquié Marta
- Marshall Rachel
- Marshall Rachel
- Martín Montes A.
- Martín Montes Angel
- Martín E.
- Martín Elvira
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- Martínez B.
- Martínez C.
- Martínez M.T.
- Martínez V.
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- Marín M.
- Marín M.
- Marín T.
- Marín-Muñoz J.
- Masullo Carlo
- Masullo Carlo
- Mata Ignacio
- Mather Karen
- Matoska Vaclav
- Mauleón Ana
- Mayhaus Manuel
- Mayo Kevin
- McGuinness Bernadette
- McGuinness Bernadette
- McQuillin Andrew
- McQuillin Andrew
- Mead Simon
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- Meah Wee-Yang
- Mecocci Patrizia
- Mecocci Patrizia
- Medel Nancy
- Medina M.
- Medina Miguel
- Meggy Alun
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- Mehrabian Shima
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- Mendioroz Iriarte M.
- Mendoza Silvia
- Menéndez-González M.
- Menéndez-González Manuel
- Mignot Emmanuel
- Mir P.
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- Miyashita Akinori
- Moebus Susanne
- Moebus Susanne
- Moebus Susanne
- Mok Shi Qi
- Mok Vincent
- Mol Merel
- Molina-Porcel Laura
- Montrreal L.
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- Morelli Laura
- Moreno Fermin
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- Moreno M.
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- Morgan Kevin
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- Morizono Takashi
- Morris John
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- Nacmias Benedetta
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- Naito Tatsuhiko
- Nash William
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- Ng Ebonne Y.
- Ngandu Tiia
- Nicolas Aude
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- Niida Shumpei
- Nordestgaard Børge G.
- Nordestgaard Børge G.
- Novack Gisela
- Nuñez-Llaves R.
- Nöthen Markus M.
- O'Donovan Michael
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- Okada Yukinori
- Olaso Robert
- Olivar Natividad
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- Orellana A.
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- Orellana Adelina
- Orsini Michela
- Ortega G.
- Ortega Gemma
- Ortiz Cecilia
- Owen Michael
- Owen Michael J.
- Ozaki Kouichi
- Pablo Tartan Juan
- Padovani Alessandro
- Pancho A.
- Pancho Ana
- Paola Zoia Chiara
- Paolo Caffarra
- Papenberg Goran
- Papenberg Goran
- Papma Janne
- Park Hyeonseul
- Parnetti Lucilla
- Parnetti Lucilla
- Parveen Kayenat
- Parveen Kayenat
- Pasquier Florence
- Pasquier Florence
- Pasquier Florence
- Passmore Peter
- Passmore Peter
- Pastor P.
- Pastor Pau
- Pastor Pau
- Patel Yogen
- Pei Zhong
- Peixoto Leal Thiago
- Pelejà E.
- Pelejà Esther
- Peltonen Markku
- Peng Rong
- Pericard Pierre
- Periñán Mt
- Periñán-Tocino T.
- Perneczky Robert
- Peters Oliver
- Peters Oliver
- Pickering-Brown Stuart
- Pijnenburg Yolande A. L.
- Pijnenburg Yolande A.L.
- Pinchler Sabrina
- Pineda J.A.
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- Pineda-Sánchez R.
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- Piras Fabrizio
- Piras Federica
- Pisanu Claudia
- Piñol Ripoll G.
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- Polak Thomas
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- Popp Julius
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- Porcel Laura Molina
- Posthuma Danielle
- Powell John
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- Prakash Kumar-M.
- Preckler S.
- Preckler Silvia
- Priller Josef
- Proitsi Petra
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- Puerta R.
- Puerta Raquel
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- Pérez-Cordon A.
- Pérez-Cordón Alba
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- Quenez Olivier
- Quintela I.
- Quintela Inés
- Qvist Thomassen Jesper
- Rainero Innocenzo
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- Ramakers Inez
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- Ramirez Alfredo
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- Tegos Thomas
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- Tesí Niccolo
- Teunissen Charlotte
- Thalamuthu Anbupalam
- Thomas Charlene
- Thomas Tegos
- Thomassen Jesper Qvist
- Thonberg Håkan
- Toda Tatsushi
- Todd Stephen
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- Traykov Latchezar
- Tremolizzo Lucio
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- Van Dongen Jasper
- van Duijn Cornelia M.
- Van Duin Cornelia
- van Rooij Jeroen
- van Swieten John
- van Swieten John
- Vandenberghe Rik
- Vardy Emma
- Vargas L.
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- Verhey Frans
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- Vicente M.P.
- Vidal Jean-Sébastien
- Vigo-Ortega R.
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- Vivancos L.
- Vogelgsang Jonathan
- Vyhnalek Martin
- Vyhnalek Martin
- Waern Margda
- Wagner Michael
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- Weber Heike
- Weinhold Leonie
- Wichmann H-Erich
- Wilcock Gordon
- Williams Amy
- Williams Julie
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- Wiltfang Jens
- Wiltfang Jens
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Wu Yih-Ru
- Xu Renshi
- Xu Yu-ming
- Yan Yaping
- Yang Jing
- Yannakoulia Mary
- Yaqub Amber
- Yogeshwar Selina Maria
- Yonkova Mihova Kalina
- Yu Eric
- Zetterberg Henrik
- Zettergren Anna
- Zhang Jing
- Zulaica Miren
- Álvarez I.
- Álvarez V.
- Álvarez Victoria
- Publication venue
- National Academy of Sciences
- Publication date
- 29/08/2023
- Field of study
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues
Family Experience With Pierre Robin Sequence: A Qualitative Study
- Author
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Measurement of Patients' Perceptions of the Quality of Acute Stroke Services: Development and Validation of the STROKE Perception Report
- Author
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 01/10/2019
- Field of study
INTRODUCTION: Patients' perceptions of healthcare quality have become an important part of quality measurement. We explored patients' and family's lived experiences during acute stroke hospitalization to develop a quantitative instrument. METHODS: Focus groups were conducted using open-ended scripted questions. Interview data were coded and analyzed using an inductive approach to thematic analysis. Symmetric patient and family instruments were developed based on qualitative domains and serially refined to a set of 30 survey items, 12 stroke knowledge test items, and 5 subject demographic fields. Scales were evaluated for internal consistency reliability using Cronbach alpha; construct validity with exploratory factor analysis using principal components with varimax rotation was performed to determine the extent to which items in a scale measure the same underlying factor. Feasibility of an electronic cloud-based survey was also tested. RESULTS: Three main themes emerged: fast action to diagnose and treat stroke, genuine caring, and education to prevent and respond to stroke. A total of 1029 subjects completed the final instrument with no differences in perception found by race, ethnicity, or length of stay. Scales showed satisfactory internal consistency reliability (Cronbach alpha scores, .89-.94); factor loadings across each scale ranged from 0.55 to 0.87. Data entry by electronic pad was perceived by 77% to be more confidential than paper surveys; median score for difficulty was 4 ("easy to use"). CONCLUSION: The STROKE Perception Report enables understanding of patients' and family's beliefs about the quality of acute stroke care in essential new domains never explored before.Open access articleThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]
A Bibliography of Dissertations Related to Illinois History, 1996-2011
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- Absher Amy
- Acosta Aide
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- Aftandilian Dave
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- Akey Lisa J
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- Allison Lara N
- Alt Susan M
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- Alter Peter Thomas
- Alvarez Rene Luis
- Alvarez Rene Luis
- Amezcua Mike
- Anderson Warren D
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- Andrade Juan
- Arnall January Parkos
- Arnall January Parkos
- Augustine Luke Michael
- Augustine Luke Michael
- Augustyn Frederick J
- Ayabe John A
- Bachin Robin Faith
- Bahve Maya Elizabeth
- Baker Laura Elizabeth
- Barnette Jane Stewart
- Barnette Jane Stewart
- Barr Mary
- Bates Beth Tompkins
- Baule Steven Michael
- Beasley James P
- Behle James Gregory
- Belovari Susanne
- Berg Peter Iversen
- Berres Thomas
- Berres Thomas
- Best Wallace D
- Best Wallace D
- Bielakowski Rae M
- Bielakowski Rae M
- Biggs Michael Peter
- Birgen Judith Ann
- Birgen Judith Ann
- Blair Cynthia Marie
- Block Daniel Ralston
- Bloom Alan
- Boehm
- Bohlmann Rachel Elizabeth
- Bohlmann Rachel Elizabeth
- Boruchoff Judith A
- Boyd Roger E
- Boyd Roger E
- Breitzer Susan Roth
- Breitzer Susan Roth
- Brinkman Paul David
- Brune Jeffrey A
- Bryant Rebecca A
- Buckley Constance R
- Buckley Constance R
- Buckley Constance R
- Buckun Ann Louise
- Buelow Paul A
- Buenger Nancy
- Buenger Nancy
- Burke Amy Doreen
- Burns Andrea Alison
- Burris John Paul
- Burris John Paul
- Cabello Tristan
- Cabello Tristan
- Cadagin Sean P
- Campaigne David A
- Campaigne David A
- Canfield Amy Taipale
- Canfield Amy Taipale
- Canfield Amy Taipale
- Cano Gustavo
- Cardman Elizabeth R
- Carr Patrick J
- Chambers Michael Allen
- Chambliss Julian C
- Chatelain Marcia
- Chawszczewski Susanne Arlene
- Chesen Judy A
- Chesen Judy A
- Chism Monique M
- Chism Monique M
- Clague Mark Allan
- Clague Mark Allan
- Clardy Brian Keith
- Clardy Brian Keith
- Cobb Deirdre Lynn
- Cocks Catherine Campbell
- Cocks Catherine Campbell
- Cohen Andrew Wender
- Cohen Jennifer Leah
- Cohen Jennifer Leah
- Cohen Michael Mark
- Cohen Michael Mark
- Coit Jonathan S
- Cooley Will
- Cooper Guasco Suzanne
- Cormode Scott
- Cortez Gabriel A
- Cremin Dennis H
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- Cromwell Arthur Carrall
- Cubbage Kent T
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- Cunningham Erin
- Cyr Mark Allen
- Danns Dionne A
- Davis-Hayes Kenya
- De Genova Nicholas P
- De Leon Cedric
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- Delaney-Rivera Colleen Marie
- Demel Scott J
- Demel Scott J
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- Dexter Shalanda Denise
- Diamond Andrew J
- Dillane Aileen
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- Dimuro Joseph
- Dluger Marc A
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- Dobbie David S
- Dobschuetz Barbara Louise
- Dolan Mark K
- Domina Meryl
- Donovan Brian Lane
- Donovan Brian Lane
- Downey Brant
- Dube Caleb
- Ehrhardt Kathleen L
- Epstein Pamela Ilyse
- Esquibel Elena
- Exposition
- Fansler Michael James
- Farmer Stephanie
- Fenderson Jonathan Bryan
- Fernandez Lilia
- Feurer Rosemary Ann
- Fie Shannon Marie
- Fie Shannon Marie
- Fine Eve
- Fine Eve
- Finstein Amy Debra
- Florang Donald Dean
- Foley Winkler Kathleen M
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- Gaddis Vincent Ray
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- Ganz Cheryl R
- Garb Margaret
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- Gill
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- Goddard Caroline K
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- Grau Scott R
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- Gray Stephen C
- Grazian David
- Green Adam Paul
- Gruen Jason Philip
- Guglielmo Mark Anthony
- Guglielmo Thomas Angelo
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- Guy Roger Stephen
- Hallstoos Brian James
- Harden Jacalyn D
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- Harris Leslie J
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- Hasier Paulette Marie
- Haverty-Stacke Donna Truglio
- Hayes Andrew Martin
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- Hayes Andrew Martin
- Hayes Melissa A
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- Heath Susan E
- Hedman Kristin Marie
- Hegner Victoria
- Helford Reid Marc
- Helgeson Jeffrey
- Henderson Zorich Camille
- Henderson Zorich Camille
- Hinderer Moira Elizabeth
- Hines Richard Kenneth
- Hines Richard Kenneth
- Hines Richard Kenneth
- Hiort Wright Sofia A. T.
- Hiort Wright Sofia A. T.
- Hiort Wright Sofia A. T.
- Hoehnle Peter Andrew
- Hoehnle Peter Andrew
- Hohlt Brian Richard
- Hohlt Brian Richard
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- Holt Julie Zimmermann
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- House Roger Randolph
- Hricko Mary
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- Hubbard Ladee
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- Hussman Polly R
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- Joens David A
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- Johnson Kirk Anthony
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- Kimmel Sheryl Adelman
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- Kiper Richard Leslie
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- Kleinaitis Joyce
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- Ko Jen-Li
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- Koenig Brigitte Anne
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- Logan Gabriel S
- Lohne Raymond A
- Lorimer Anne
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- Mapes Mary Lynne
- Marcus Sarah Susan
- Markwell David Thomas
- Mason Byron Douglas
- Mason Paul Warren
- Materson Lisa Gail
- Mayfield Loomis
- McCarthy Malachy Richard
- McCarthy Malachy Richard
- McCoyer Michael
- McDaniel David Paul
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- McDermott Stacy Pratt
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- McFarland Morgan J
- McKeown Adam
- McMillan Gloria Lee
- McMillan Gloria Lee
- McMillan Gloria Lee
- McNally
- Mekel Sonja L
- Mendelsohn Betsy Thomas
- Mendelsohn Betsy Thomas
- Meyers Christopher C
- Meyers Christopher C
- Michael Vincent Leszczynski
- Minich Frances Johanna
- Minich Frances Johanna
- Mitchell Ted Robert
- Mitchell Ted Robert
- Mitrani Sam
- Moorhead Jonathan David
- Moran Katherine D
- Morris Juliet E
- Morriss Timothy R
- Morrissey Robert Michael
- Morrisson Mark S
- Moser Daniel
- Mulder Mark Timothy
- Mullgardt Brian C
- Naick Patrick Javaid
- Nance Susan
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- Nathan Daniel Abraham
- Newman Kathe Anne
- Newsome Thomas Aldridge
- Newton-Matza Mitchell
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- Nicholsen Michael D
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- Noraian Monica Cousins
- Noraian Monica Cousins
- Norris F. Terry.
- O'Rourke Bridget Kathleen
- Oehler Susan E
- Olica Sonia
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- Olney Kent Robert
- Orr Suzanne Elizabeth
- Orr Suzanne Elizabeth
- Osborne Elizabeth Ann
- Ostergaard Lori Alden
- Ostergaard Lori Alden
- Park Sung Woo
- Park Sung Woo
- Parkinson John Scott
- Pattillo Mary E
- Peck Graham Alexander
- Peck Graham Alexander
- Pena Elaine A
- Percy Ruth
- Percy Ruth
- Perez Gina Mae
- Perez Gina Mae
- Perez Gina Mae
- Perkins DoLen
- Phelps Carmen L
- Ploeger-Tsoulos Joanna Stefanie
- Ploog Randy J
- Plotkin Wendy
- Plotkin Wendy
- Pobst James Herbert
- Poe Tracy Nicole
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- Pollack David
- Prosterman Annette
- Provasnik Stephen John
- Pykles Benjamin C
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- Ramirez Leonard Gabriel
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- Ramos-Zayas Ana Yolanda
- Randoll Stephen E
- Rangaswamy Padma Iyer
- Ransford Elizabeth Hoffman
- Raphael
- Rast Joel Stephen
- Reda John
- Redlich Rosemarie
- Reed Mathew Zeiler
- Reed Mathew Zeiler
- Reid Audley George
- Reid John B
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- Rembis Michael Allen
- Rice Jon F
- Rivera Angelica
- Rivera Angelica
- Rivers Ishwanzya
- Roach Leigh Anne
- Robinson Stephanie Nicole
- Robinson Stephanie Nicole
- Robinson Stephanie Nicole
- Rohr Sylvia
- Rohr Sylvia
- Rose Fionnuala Rhoda
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- Rosebrough Amy L
- Rozario Kevin L
- Rua Merida M
- Ryan Anne Marie
- Rzepka Dana Ivec
- Salt Karen N
- Salt Karen N
- Salzmann Joshua A. T.
- Salzmann Joshua A. T.
- Scandiffio Theresa
- Schilling Timothy Michael
- Schilling Timothy Michael
- Schlessinger Jill Beth
- Schneiderhan Erik
- Schneiderhan Erik
- Schneidhorst Amy C
- Schrenk Lisa Diane
- Schroeder Christopher D
- Schroeder Elizabeth R
- Schroeder Sissel
- Schultz Yvonne R
- Schultz Yvonne R
- Schultz Yvonne R
- Schweber Howard H
- Scipes Kim
- Scipes Stephen R
- Secrist Karen Serwer
- Seham Amy L
- Seligman Amanda Irene
- Seligman Amanda Irene
- Shackelford Alan G
- Shedd Carla
- Sherfy Michael
- Sherrod Elgie Gaynell
- Sider-Rose Michael Jay
- Sider-Rose Michael Jay
- Siegel Paul Bernard
- Sieracki Bernard H
- Sills Kathleen M
- Simpson Mary Caroline
- Sinha Vandna
- Skok Deborah Ann
- Smith Anthony Woodruff
- Smith Brett Hunn
- Smith James Micajah
- Smith James Micajah
- Smith Nola Diane
- Smith Nola Diane
- Spatz David Alexander
- Spatz David Alexander
- Staats Valerie Jean
- Stangl Jane Marie
- Stangl Jane Marie
- Steinbeck Paul
- Stephenson Anne
- Stevens William David
- Stevens William David
- Stewart-Winter Timothy
- Stoltzfus Duane C. S.
- Stone-Gordon Tammy Lee
- Storch Randi Jill
- Storch Randi Jill
- Stovey Patricia Ann
- Strauss Daniel M. W.
- Strayer-Jones Jennifer L
- Stroik Adrienne Lisbeth
- Stroik Adrienne Lisbeth
- Suzukovich Eli Steven
- Suzukovich Eli Steven
- Swartzbaugh Laura K
- Swartzbaugh Laura K
- Swartzman Arlene L
- Swygart-Hobaugh Amanda Jo
- Swygart-Hobaugh Amanda Jo
- Tanenhaus David Spinoza
- Theising Andrew James
- Thomas Larissa Ann
- Thomas Robert S
- Thomas Robert S
- Thompson Maris Rachel
- Tizon Orlando P
- Todd-Breland Elizabeth Shana
- Torphy Stefanie Ann
- Torphy Stefanie Ann
- Towns John
- Trubitt Mary Beth D
- Tsenes-Hills Temple Bryonny
- Turner Felicity
- Vactor Vanita Marian
- Vaillant Derek Wightman
- Van Horn Robert D
- Velazquez Mirelsie
- Velazquez Mirelsie
- Venkatesh Sudhir Alladi
- Vosmeier Matthew N
- Waisala Wendy Ellen
- Waite Lori Gail
- Waldron Caroline Anne
- Waldron-Merithew Caroline Anne
- Walker Janelle L
- Wang Qingling
- Washington Sylvia Hood
- Washington Sylvia Hood
- Watson Robert Joseph
- Watson Robert Joseph
- Wegner Kathryn L
- Weight Donovan Stoddard
- Wells Joshua J
- Westhoff Laura Marie
- Wheeler Kenneth H
- White Janet Ruth
- White Janet Ruth
- Williams Jakobi Emon
- Williamson Joy Ann
- Willrich Michael
- Wolcott David Bryan
- Wolf Jacqueline H
- Wolf Jacqueline H
- Wooters Donald Joe
- Wooters Donald Joe
- Woten Rick L
- Woten Rick L
- Yood Charles Nelson
- Young Paul Clinton
- Young Paul Clinton
- Zhang Jing
- Zhang Yue
- Zimmerman Jeffrey Allen
- Publication venue
- 'University of Illinois Press'
- Publication date
- 01/01/2013
- 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
New insights into the genetic etiology of Alzheimer’s disease and related dementias
- Author
- Aaltonen Lauri
- Aaltonen Vesa
- Aarsland Dag
- Aavikko Mervi
- Abalos Mariana Sanchez
- Abdelnour Carla
- Abner Erin
- Abraham Richard
- Adams Hieab
- Adams Perrie M.
- Adarmes-Gómez Ad
- Adarmes-Gómez Astrid D.
- Aguilera Nuria
- Aguilera Nuria
- Aguirre Alyssa
- Ahmad Shahzad
- Akinyemi Rufus O.
- Al-Chalabi Ammar
- Alarcón-Martín Emilio
- Albert Marilyn S.
- Albin Roger L.
- Alcolea Daniel
- Alegret Montserrat
- Ali Muhammad
- Allen Mariet
- Allende Irene Rosas
- Alonso María Dolores
- Alonso María Dolores
- Alvarez Ignacio
- Alvarez Lisa
- Amer-Ferrer Guillermo
- Amin Najaf
- Amouyel Philippe
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Andreassen Ole A.
- Andreoni Simona
- Antequera Martirio
- Antikainen Riitta
- Antonell Anna
- Anttonen Vuokko
- Antúnez Carmen
- Aparicio Hugo J.
- Apostolova Liana G.
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Armstrong Nicola
- Armstrong Nicola J.
- Arnold Steven E.
- Arosio Beatrice
- Arvas Mikko
- Assogna Francesca
- Asthana Sanjay
- Athanasiu Lavinia
- Atwood Craig S.
- Auge Franck
- Auranen Annika
- Auvinen Päivi
- Awaisa Ghazal
- Ayres Gayle
- Bacha Juan Ignacio
- Bahadori Maryam
- Bahrami Shahram
- Bailly Henri
- Baldwin Clinton T.
- Banaj Nerisa
- Baquero Miquel
- Barber Robert C.
- Barnes Lisa L.
- Barral Sandra
- Barral Sandra
- Bass Nicholas J.
- Bass Nick
- Bastiani Patrizia
- Bayer Anthony
- Beach Thomas G.
- Becker James T.
- Becker James T.
- Becker Tim
- Beecham Gary W.
- Beekly Duane
- Behrens Tim
- Beiser Alexa
- Belezhanska Diyana
- Bellenguez Céline
- Below Jennifer E.
- Below Jennifer E.
- Ben-Shlomo Yoav
- Benchek Penelope
- Benchek Penelope
- Benitez Bruno A.
- Bennett David
- Benussi Alberto
- Benussi Luisa
- Bergh Sverre
- Bernardo-Harrington Mateus
- Berr Claudine
- Bertelson John
- Besse Céline
- Bessi Valentina
- Betts Jo
- Bhangale Tushar
- Biessels Geert Jan
- Binetti Giuliano
- Bing Nan
- Bird Thomas D.
- Bis Joshua C.
- Biswas Shameek
- Bizarro Alessandra
- Bjerke Maria
- Blacker Deborah
- Blesa Rafael
- Blomster Timo
- Boada Mercè
- Boecker Henning
- Boerwinkle Eric
- Boeve Bradley F.
- Boland Anne
- Borroni Barbara
- Boschi Silvia
- Bosnes Ingunn
- Bossù Paola
- Bowen James D.
- Bowers Natalie
- Boxer Adam
- Brauer Matt
- Brayne Carol
- Brein Georg
- Bresner Catherine
- Bressler Jan
- Breteler Monique
- Brewer James
- Brice Alexis
- Brodaty Henry
- Broeckhoven Christine Van
- Bronson Paola
- Brookes KJ
- Brown Kristelle
- Brown Kristelle S.
- Brusco Luis Ignacio
- Bråthen Geir
- Buendia Mar
- Buiza-Rueda Dolores
- Bullido María J.
- Burguera Juan Andrés
- Burholt Vanessa
- Burke James R.
- Burns Jeffrey M.
- Bush Will S.
- Bush William S.
- Buxbaum Joseph D.
- Bûrger Katharina
- Cairns Nigel J.
- Calero Miguel
- Caliskan Minal
- Call Katherine
- Call Kathy
- campion Dominique
- Campos-Martin Rafael
- Cano Amanda
- Cantwell Laura B.
- Cao Chuanhai
- Carlson Christopher S.
- Carlsson Cynthia M.
- Carney Regina M.
- Carpén Olli
- Carracedo Ángel
- Carrasquillo Minerva M.
- Carrillo F.
- Carrillo Fátima
- Carrion-Claro M.
- Carrión-Claro Mario
- Casajeros María José
- Castaño Eduardo M.
- Cañabate Pilar
- Cañabate Pilar
- Cecchetti Roberta
- Cervera-Carles Laura
- Challis Ben
- Chang Diana
- Chapuis Julien
- Charbonnier Camille
- Chasman Daniel
- Chasse Scott
- Chatelain Clement
- Chauhan Ganesh
- Chen Chia-Yen
- Chen Hao
- Chen Hubert
- Chen Hung-Hsin
- Chen Xing
- Chene Geneviève
- Chesi Alessandra
- Chesselet Marie-Francoise
- Chhibber Aparna
- Chillotti Caterina
- Chin Nathaniel A.
- Chipi Elena
- Choy David
- Chu Audrey
- Chui Helena C.
- Chung Jaeyoon
- Chung Jaeyoon
- Ciccone Simona
- Ciullo Valentina
- Claassen Jurgen A. H. R.
- Clarimon Jordi
- Clark Christopher
- Clarke Robert
- Close David
- Collinge John
- Comic Hata
- Conti Elisa
- Cores Valeria
- Corma-Gómez Anaïs
- Costa Marcos R.
- Costantini Emanuele
- Cox Simon
- Craft Suzanne
- Craig David
- Crane Paul K.
- Cribbs David H.
- Crocco Elizabeth A.
- Crohns Marika
- Cruchaga Carlos
- Cuccaro Michael L.
- Cuccaro Michael L.
- Cuesta Carolina
- Cullum Munro
- Cummings Beryl
- Cupples Adrienne L.
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Daly Mark
- Damotte Vincent
- Daniele Antonio
- Darby Eveleen
- Dardiotis Efthimios
- Dartigues Jean-François
- Davies Chloe
- Davies Gail
- Davis Barbara
- Davis Justin Wade
- de Deyn Peter Paul
- De Jager Philip L.
- de Mendonça Alexandre
- de Munain Adolfo Lopez
- de Paiva Lopes Katia
- de Rojas Itziar
- de Witte Lot D.
- Debette Stéphanie
- DeCarli Charles
- DeCarli Charles S.
- Deckert Jürgen
- del Ser Teodoro
- Deleuze Jean-François
- della Briotta Parola Pietro
- della Briotta Parolo Pietro
- Deloukas Panagiotis
- Deloukas Pangiotis
- Denning Nicola
- Deramecourt Vincent
- Deramerourt Vincent
- DeStefano Anita
- DeToledo John
- Dichgans Martin
- Dick Malcolm
- Dickson Dennis W.
- Diego Susana
- Diehl-Schmid Janine
- Diez-Fairen Mónica
- Diogo Dorothee
- Djurovic Srdjan
- Dombroski Beth A.
- Dongen Jasper Van
- Donner Kati
- Doody Rachelle S.
- Dowzell Kimberley
- Drichel Dmitriy
- Duara Ranjan
- Dubois Bruno
- Dufouil Carole
- Duperron Marie-Gabrielle
- Dupuis Josée
- Duron Emmanuelle
- Düzel Emrah
- Eaton Susan
- Ehm Meg
- Eicher John
- Eiriksdottir Gudny
- Eklund Kari
- Elenius Klaus
- Elliott Amanda
- Engelborghs Sebastiaan
- Epelbaum Jacques
- Ertekin-Taner Nilüfer
- Escott-Price Valentina
- Escuela R.
- Escuela Rocío
- Esmaeeli Sahar
- Espinosa Ana
- Espinosa Miguel Angel Labrador
- Etchepareborda Ignacio
- Evans Denis A.
- Evans Tavia
- Ewers Michael
- Faber Kelley M.
- Fabrizio Tagliavini
- Fairchild Thomas J.
- Fallon Kenneth B.
- Fan Frank
- Fardo David W.
- Farlow Martin R.
- Farotti Lucia
- Farrell John J.
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernandez-Hernandez Victoria
- Fernández-Fuertes Marta
- Ferrarese Carlo
- Ferrari Raffaele
- Ferreira Catarina B.
- Ferri Evelyn
- Ferris Steven
- Feulner Thomas
- Fievet Nathalie
- Fin Bertrand
- Fischer Peter
- Fisher Elizabeth
- Fitzpatrick Annette
- Fladby Tormod
- Fließbach Klaus
- Fohner Alison E.
- Fongang Bernard
- Fornage Myriam
- Foroud Tatiana M.
- Forsell Charlotte
- Fortea Juan
- Fostinelli Silvia
- Fox Caroline
- Fox Nick
- Fox Nick C.
- Franco-Macías Emlio
- Frank-García Ana
- Frikke-Schmidt Ruth
- Froelich Lutz
- Frosch Matthew P.
- Frölich Lutz
- Fulton-Howard Brian
- Fulton-Howard Brian
- Färkkilä Martti
- Gailhajenet Anna
- Galasko Douglas R.
- Galeano Pablo
- Galimberti Daniela
- Gamboa Adriana
- Ganguli Mary
- Ganna Andrea
- Garcia-Gonzalez Pablo
- Garcia-Madrona Sebastian
- Garcia-Ribas Guillermo
- Garcia-Tabuenca Javier
- García-Alberca Jose Maria
- García-González Pablo
- Garrote-Espina L.
- Garrote-Espina Lorena
- Gearing Marla
- Geerlings Mirjam
- Georgantas Bob
- George-Hyslop Peter St
- Germani Sandra
- Gerrish Amy
- Geschwind Daniel H.
- Ghanbari Mohsen
- Ghetti Bernardino
- Ghidoni Roberta
- Ghosh Soumitra
- Giedraitis Vilmantas
- Giegling Ina
- Gilbert John R.
- Gill Michael
- Giorgio Giaccone
- Glatt Stephen J.
- Goate Alison M.
- Goldhardt Oliver
- Gomez-Fonseca Duber
- Gonzalez Hector M.
- González-Pérez Antonio
- Gordillo Jorge Esparza
- Gormley Padhraig
- Goss Monica
- Gossel Matthias
- Grabe Hans
- Grabowski Thomas J.
- Gracia-Tabuenca Javier
- Graff Caroline
- Graff-Radford Neill R.
- Graham Robert
- Grand Quentin Le
- Grande Giulia
- Grant Struan F. A.
- Green Emma
- Green Robert C.
- Greenberg Steven
- Grenier-Boley Benjamin
- Grimmer Timo
- Growdon John H.
- Grunin Michelle
- Grünblatt Edna
- Gu Wei
- Gudnason Vilmundur
- Guerreiro Rita
- Guetta-Baranes Tamar
- Guitart Marina
- Gurling Hugh
- Gursoy Ulvi
- Gwilliam Rhian
- Gómez-Garre P.
- Gómez-Garre Pilar
- Haapasalo Annakaisa
- Habes Mohamad
- Hadjigeorgiou Georgios
- Haines Jonathan L.
- Haines Jonathan L.
- Hakonarson Hakon
- Hall James
- Hamilton Ronald L.
- Hamilton-Nelson Kara L.
- Hampel Harald
- Hannequin Didier
- Hannula-Jouppi Katariina
- Hanon Olivier
- Harari Oscar
- Hardy John
- Harju Jarmo
- Harju Terttu
- Harold Denise
- Harrell Lindy E.
- Hartmann Annette M.
- Harvima Ilkka
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- Strittmatter Stephen M.
- Ståhlbom Anne Kinhult
- Sultzer David
- Suominen Liisa
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- Swerdlow Russell H.
- Sáez María Eugenia
- Sánchez-Arjona María Bernal
- Sánchez-Valle Raquel
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- Taskinen Marja-Riitta
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- Tesí Niccolo
- Teumer Alexander
- Thalamuthu Anbupalam
- Thomas Alvin
- Thomas Charlene
- Thomas Tegos
- Thomassen Jesper Qvist
- Thonberg Håkan
- Tienari Pentti
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- Tin Adrienne
- Todd Stephen
- Toso Carlos Reyes
- Tosto Giuseppe
- Traykov Latchezar
- Tremolizzo Lucio
- Trojanowski John Q.
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- Tsolaki Magda
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- Tsuo Kristin
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- Tukiainen Taru
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Tuovila Outi
- Turpeinen Miia
- Turton James
- Turunen Joni A.
- Tybjærg-Hansen Anne
- Tzourio Christophe
- Tárraga Lluís
- Uitterlinden Andre
- Ullgren Abbe
- Ulstein Ingun
- Uphill James
- Usiskin Keith
- Uusitalo Hannu
- Uusitalo-Järvinen Hannele
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- Vainio Seppo
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- Van Deerlin Vivianna M.
- van den Bussche Hendrik
- van der Flier Wiesje M.
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- van der Lugt Aad
- van Duijn Cornelia M.
- van Eldik Linda J.
- van Lent Debora Melo
- van Rooij Jeroen
- van Swieten John
- Vance Jeffery
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- Vardy Emma
- Vargas Liliana
- Vassar Robert
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- Vivancos Liliana
- Vogelgsang Jonathan
- Vojinovic Dina
- Vonsattel Jean-Paul
- Voutilainen Markku
- Vyhnalek Martin
- Wadhawan Samir
- Wagner Michael
- Wallon David
- Wang Clarence
- Wang Li-San
- Wang Ruiqi
- Wang Yanbing
- Warden Donald
- Waring Jeff
- Waring Jeffrey
- Warner Nick
- Warren Jason D.
- Waterworth Dawn
- Weber Heike
- Weinhold Leonie
- Weinstein Galit
- Weintraub Sandra
- Welsh-Bohmer Kathleen A.
- Whelan Christopher
- Whitehead Patrice L.
- Wichmann H-Erich
- Wigmore Eleonor
- Wijsman Ellen M.
- Wilcock Gordon
- Wilhelmsen Kirk C.
- Williams Amy
- Williams Benjamin
- Williams Dylan
- Williams Julie
- Williamson Jennifer
- Wilms Henrik
- Wiltfang Jens
- Windle Gill
- Wingo Thomas S.
- Wisniewski Thomas
- Wittfeld Katharina
- Woltjer Randall L.
- Wong Regis
- Woods Bob
- Woon Martin
- Wright Clinton B.
- Wu Chuang-Kuo
- Wu Ying
- Xia Tai-he
- Xu Ethan
- Xu Fanli
- Yanek Lisa
- Yang Qiong
- Yang Yunju
- Yannakoulia Mary
- Yaqub Amber
- Younkin Steven G.
- Yu Chang-En
- Yu Lei
- Zare Habil
- Zhang Xiaoling
- Zhang Yuanchao
- Zhao Yi
- Zhao Yi
- Zhou Wei
- Zhu Congcong
- Zhu Xiongwei
- Ziemann Adam
- Zoia Chiara Paola
- Zompo Maria Del
- Zulaica Miren
- Álvarez Victoria
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/04/2022
- 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
New insights into the genetic etiology of Alzheimer’s disease and related dementias
- Author
- A David Smith
- Aaltonen L.
- Aaltonen V.
- Aarno Palotie
- Aarsland D.
- Aavikko M.
- Abalos M. S.
- Abdelnour C.
- Abner E.
- Abraham R.
- Ad Adarmes-Gómez
- Adam Boxer
- Adam Ziemann
- Adams H.
- Adams P. M.
- Adarmes-Gómez A.
- Adarmes-Gómez A. D.
- Adriana Gamboa
- Adrienne L Cupples
- Adrienne Tin
- Aguilera N.
- Aguilera N.
- Aguirre A.
- Agustina Legaz
- Ahmad S.
- Aimee Pierce
- Aino Salminen
- Airi Jussila
- Aisha Khaleeq
- Aki Havulinna
- Akinyemi R. O.
- Al-Chalabi A.
- Alan B Stevens
- Alan Lerner
- Alarcón-Martín E.
- Albert M. S.
- Alberto Benussi
- Albin R. L.
- Alcolea D.
- Aldo Saenz
- Alegret M.
- Alessandra Chesi
- Alessandro Vacca
- Alexander Teumer
- Alexis Brice
- Ali M.
- Alisa Manning
- Alison E Fohner
- Allan I Levey
- Allen M.
- Allende I. R.
- Alonso M. D.
- Alonso M. D.
- Alvarez I.
- Alvarez L.
- Alvin Thomas
- Alyssa Aguirre
- Amanda Cano
- Amanda Elliott
- Amanda G Smith
- Amanda J Myers
- Amer-Ferrer G.
- Amin N.
- Ammar Al-Chalabi
- Amouyel P.
- Amy Gerrish
- Amy Williams
- Ana Mauleón
- Ana Pancho
- Anastasia Shcherban
- Anastasiou A.
- Anastasiou C.
- Anders Malarstig
- Andrade V.
- Andrea Ganna
- Andreassen O. A.
- Andreoni S.
- Andrew J Saykin
- Andrew McQuillin
- Andrew N McDavid
- Andrew P Lieberman
- Andrew Peterson
- Andrey Loboda
- André Lacour
- Angela Hodges
- Aniket Mishra
- Ann C McKee
- Anna Anastasiou
- Anna Antonell
- Anna Gailhajenet
- Anna M Karydas
- Anna Podgornaia
- Anne Lehtonen
- Anne Pitkäranta
- Anne Remes
- Annette Fitzpatrick
- Annika Auranen
- Antequera M.
- Anthony Bayer
- Anthony Muslin
- Antikainen R.
- Antonell A.
- Antti Karlsson
- Antti Palomäki
- Anttonen V.
- Antúnez C.
- Anu Jalanko
- Anu Loukola
- Aoibhinn Lynch
- Aparicio H. J.
- Aparna Chhibber
- Apinya Lertratanakul
- Apostolova L. G.
- Appollonio I.
- Arcaro M.
- Archetti S.
- Arjun Masurkar
- Armstrong N.
- Armstrong N. J.
- Arnold S. E.
- Arosio B.
- Arto Lehisto
- Arto Lehistö
- Arto Mannermaa
- Arvas M.
- Ashok Raj
- Assogna F.
- Asthana S.
- Astrid D Adarmes-Gómez
- Asunción Lafuente
- Atahualpa Castillo Morales
- Athanasiu L.
- Athena Matakidou
- Atwood C. S.
- Audrey Chu
- Auge F.
- Auranen A.
- Auvinen P.
- Awaisa G.
- Ayres G.
- Bacha J. I.
- Bahadori M.
- Bahrami S.
- Bailly H.
- Baldwin C. T.
- Banaj N.
- Baquero M.
- Barbara Davis
- Barber R. C.
- Barnes L. L.
- Barral S.
- Barral S.
- Barry Reisberg
- Bass N.
- Bass N. J.
- Bastiani P.
- Bayer A.
- Beach T. G.
- Becker J. T.
- Becker J. T.
- Becker T.
- Beecham G. W.
- Beekly D.
- Begoña Martínez
- Behrens T.
- Beiser A.
- Belezhanska D.
- Bellenguez C.
- Below J. E.
- Below J. E.
- Ben Challis
- Ben-Shlomo Y.
- Benchek P.
- Benitez B. A.
- Benjamin Williams
- Bennett D.
- Benussi A.
- Benussi L.
- Bergh S.
- Bernadette McGuinness
- Bernard Mazoyer
- Bernardino Ghetti
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- Yuanchao Zhang
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- Yunfeng Huang
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- 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