Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease
Jonathan M. Schott
(1)
,
Sebastian J. Crutch
(1)
,
Minerva M. Carrasquillo
(2)
,
James Uphill
(3)
,
Tim J. Shakespeare
(1)
,
Natalie S. Ryan
(1)
,
Keir X.X. Yong
(1)
,
Manja Lehmann
(1)
,
Nilufer Ertekin-Taner
(2, 4)
,
Neil R. Graff-Radford
(4)
,
Bradley F. Boeve
(5)
,
Melissa E. Murray
(2)
,
Qurat Ul Ain Khan
(2)
,
Ronald C. Petersen
(5)
,
Dennis W. Dickson
(2)
,
David S. Knopman
(5)
,
Gil D. Rabinovici
(6)
,
Bruce L. Miller
(6)
,
Aida Suarez Gonzalez
(7, 1)
,
Eulogio Gil-Néciga
(7)
,
Julie S. Snowden
(8)
,
Jenny Harris
(8)
,
Stuart M. Pickering-Brown
(8)
,
Eva Louwersheimer
(9)
,
Wiesje M. van Der Flier
(9)
,
Philip Scheltens
(9)
,
Yolande A. Pijnenburg
(9)
,
Douglas Galasko
(10, 11)
,
Marie Sarazin
(12)
,
Bruno Dubois
(13, 14, 15)
,
Eloi Magnin
(16)
,
Daniela Galimberti
(17)
,
Elio Scarpini
(17)
,
Stefano F. Cappa
(18)
,
John R. Hodges
(19)
,
Glenda M. Halliday
(19)
,
Lauren Bartley
(19)
,
Maria C. Carrillo
(20)
,
Jose T. Bras
(21)
,
John Hardy
(21)
,
Martin N. Rossor
(1)
,
John Collinge
(3)
,
Nick C. Fox
(1)
,
Simon Mead
(3)
1
Department of Neurodegenerative Disease
2 Department of Neuroscience
3 Department of Neurodegenerative Diseases
4 Department of Neurology
5 Department of Neurology
6 UCSF - Cardiovascular Research Institute
7 Hospital Universitario Virgen del Rocío [Sevilla]
8 Institute of Brain, Behaviour and Mental Health
9 Alzheimer center
10 Department of Epidemiology and biostatistics
11 UC San Diego - School of Medicine [Univ California San Diego]
12 Neuro-anatomie fonctionnelle du comportement et de ses troubles
13 IM2A - Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre]
14 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
15 Centre des Maladies Cognitives et Comportementales [Paris]
16 CMRR - Centre Mémoire de Ressources et de Recherche [CHRU de Besançon]
17 Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
18 Vita-Salute San Raffaele University and Center for Translational Genomics and Bioinformatics
19 UNSW - University of New South Wales [Sydney]
20 Alzheimer's Association [Chicago]
21 Department of Molecular Neurosciences
2 Department of Neuroscience
3 Department of Neurodegenerative Diseases
4 Department of Neurology
5 Department of Neurology
6 UCSF - Cardiovascular Research Institute
7 Hospital Universitario Virgen del Rocío [Sevilla]
8 Institute of Brain, Behaviour and Mental Health
9 Alzheimer center
10 Department of Epidemiology and biostatistics
11 UC San Diego - School of Medicine [Univ California San Diego]
12 Neuro-anatomie fonctionnelle du comportement et de ses troubles
13 IM2A - Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre]
14 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
15 Centre des Maladies Cognitives et Comportementales [Paris]
16 CMRR - Centre Mémoire de Ressources et de Recherche [CHRU de Besançon]
17 Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
18 Vita-Salute San Raffaele University and Center for Translational Genomics and Bioinformatics
19 UNSW - University of New South Wales [Sydney]
20 Alzheimer's Association [Chicago]
21 Department of Molecular Neurosciences
Jonathan M. Schott
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Eloi Magnin
- Fonction : Auteur
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- ORCID : 0000-0003-3036-9266
- IdRef : 144716755
Résumé
Introduction: The genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain. Methods: We genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome-wide association study. Results: We confirm that variation in/near APOE/TOMM40 (P 5 6 ! 10 214) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] 5 2.03, typical AD: OR 5 2.83, P 5 .0007). We found evidence for risk in/near CR1 (P 5 7 ! 10 24), ABCA7 (P 5 .02) and BIN1 (P 5 .04). ORs at variants near INPP5D and NME8 did not overlap between PCA and typical AD.
| Origine | Publication financée par une institution |
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