Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.

TitleAssociation of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.
Publication TypeJournal Article
Year of Publication2012
AuthorsBakken TE, Roddey CJ, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR et al.
Corporate AuthorsAlzheimer's Disease Neuroimaging Initiative, Pediatric Imaging, Neurocognition, and Genetics Study
JournalProceedings of the National Academy of Sciences of the United States of America
Date Published2012 Mar 6

Visual cortical surface area varies two- to threefold between human individuals, is highly heritable, and has been correlated with visual acuity and visual perception. However, it is still largely unknown what specific genetic and environmental factors contribute to normal variation in the area of visual cortex. To identify SNPs associated with the proportional surface area of visual cortex, we performed a genome-wide association study followed by replication in two independent cohorts. We identified one SNP (rs6116869) that replicated in both cohorts and had genome-wide significant association (P(combined) = 3.2 × 10(-8)). Furthermore, a metaanalysis of imputed SNPs in this genomic region identified a more significantly associated SNP (rs238295; P = 6.5 × 10(-9)) that was in strong linkage disequilibrium with rs6116869. These SNPs are located within 4 kb of the 5' UTR of GPCPD1, glycerophosphocholine phosphodiesterase GDE1 homolog (Saccharomyces cerevisiae), which in humans, is more highly expressed in occipital cortex compared with the remainder of cortex than 99.9% of genes genome-wide. Based on these findings, we conclude that this common genetic variation contributes to the proportional area of human visual cortex. We suggest that identifying genes that contribute to normal cortical architecture provides a first step to understanding genetic mechanisms that underlie visual perception.

Alternate JournalProc. Natl. Acad. Sci. U.S.A.