학술논문
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
Document Type
article
Author
Naj, Adam C; Jun, Gyungah; Beecham, Gary W; Wang, Li-San; Vardarajan, Badri Narayan; Buros, Jacqueline; Gallins, Paul J; Buxbaum, Joseph D; Jarvik, Gail P; Crane, Paul K; Larson, Eric B; Bird, Thomas D; Boeve, Bradley F; Graff-Radford, Neill R; De Jager, Philip L; Evans, Denis; Schneider, Julie A; Carrasquillo, Minerva M; Ertekin-Taner, Nilufer; Younkin, Steven G; Cruchaga, Carlos; Kauwe, John SK; Nowotny, Petra; Kramer, Patricia; Hardy, John; Huentelman, Matthew J; Myers, Amanda J; Barmada, Michael M; Demirci, F Yesim; Baldwin, Clinton T; Green, Robert C; Rogaeva, Ekaterina; George-Hyslop, Peter St; Arnold, Steven E; Barber, Robert; Beach, Thomas; Bigio, Eileen H; Bowen, James D; Boxer, Adam; Burke, James R; Cairns, Nigel J; Carlson, Chris S; Carney, Regina M; Carroll, Steven L; Chui, Helena C; Clark, David G; Corneveaux, Jason; Cotman, Carl W; Cummings, Jeffrey L; DeCarli, Charles; DeKosky, Steven T; Diaz-Arrastia, Ramon; Dick, Malcolm; Dickson, Dennis W; Ellis, William G; Faber, Kelley M; Fallon, Kenneth B; Farlow, Martin R; Ferris, Steven; Frosch, Matthew P; Galasko, Douglas R; Ganguli, Mary; Gearing, Marla; Geschwind, Daniel H; Ghetti, Bernardino; Gilbert, John R; Gilman, Sid; Giordani, Bruno; Glass, Jonathan D; Growdon, John H; Hamilton, Ronald L; Harrell, Lindy E; Head, Elizabeth; Honig, Lawrence S; Hulette, Christine M; Hyman, Bradley T; Jicha, Gregory A; Jin, Lee-Way; Johnson, Nancy; Karlawish, Jason; Karydas, Anna; Kaye, Jeffrey A; Kim, Ronald; Koo, Edward H; Kowall, Neil W; Lah, James J; Levey, Allan I; Lieberman, Andrew P; Lopez, Oscar L; Mack, Wendy J; Marson, Daniel C; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McKee, Ann C; Mesulam, Marsel; Miller, Bruce L
Source
Nature Genetics. 43(5)
Subject
Language
Abstract
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two replication stages (stages 2 and 3). Both joint analysis and meta-analysis approaches were used. We obtained genome-wide significant results at MS4A4A (rs4938933; stages 1 and 2, meta-analysis P (P(M)) = 1.7 × 10(-9), joint analysis P (P(J)) = 1.7 × 10(-9); stages 1, 2 and 3, P(M) = 8.2 × 10(-12)), CD2AP (rs9349407; stages 1, 2 and 3, P(M) = 8.6 × 10(-9)), EPHA1 (rs11767557; stages 1, 2 and 3, P(M) = 6.0 × 10(-10)) and CD33 (rs3865444; stages 1, 2 and 3, P(M) = 1.6 × 10(-9)). We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.