%0 Journal Article
%A Schott, Jonathan M
%A Crutch, Sebastian J
%A Carrasquillo, Minerva M
%A Uphill, James
%A Shakespeare, Tim J
%A Ryan, Natalie S
%A Yong, Keir X
%A Lehmann, Manja
%A Ertekin-Taner, Nilufer
%A Graff-Radford, Neill R
%A Boeve, Bradley F
%A Murray, Melissa E
%A Khan, Qurat Ul Ain
%A Petersen, Ronald C
%A Dickson, Dennis W
%A Knopman, David S
%A Rabinovici, Gil D
%A Miller, Bruce L
%A González, Aida Suárez
%A Gil-Néciga, Eulogio
%A Snowden, Julie S
%A Harris, Jenny
%A Pickering-Brown, Stuart M
%A Louwersheimer, Eva
%A van der Flier, Wiesje M
%A Scheltens, Philip
%A Pijnenburg, Yolande A
%A Galasko, Douglas
%A Sarazin, Marie
%A Dubois, Bruno
%A Magnin, Eloi
%A Galimberti, Daniela
%A Scarpini, Elio
%A Cappa, Stefano F
%A Hodges, John R
%A Halliday, Glenda M
%A Bartley, Lauren
%A Carrillo, Maria C
%A Bras, Jose T
%A Hardy, John
%A Rossor, Martin N
%A Collinge, John
%A Fox, Nick C
%A Mead, Simon
%T Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
%D 2016
%U http://hdl.handle.net/10668/9929
%X The genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain. We genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome-wide association study. We confirm that variation in/near APOE/TOMM40 (P = 6 × 10(-14)) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007). We found evidence for risk in/near CR1 (P = 7 × 10(-4)), ABCA7 (P = .02) and BIN1 (P = .04). ORs at variants near INPP5D and NME8 did not overlap between PCA and typical AD. Exploratory genome-wide association studies confirmed APOE and identified three novel loci: rs76854344 near CNTNAP5 (P = 8 × 10(-10) OR = 1.9 [1.5-2.3]); rs72907046 near FAM46A (P = 1 × 10(-9) OR = 3.2 [2.1-4.9]); and rs2525776 near SEMA3C (P = 1 × 10(-8), OR = 3.3 [2.1-5.1]). We provide evidence for genetic risk factors specifically related to PCA. We identify three candidate loci that, if replicated, may provide insights into selective vulnerability and phenotypic diversity in AD.
%K APOE
%K Alzheimer's disease
%K GWAS
%K Genetics
%K Posterior cortical atrophy
%K Selective vulnerability
%~