UMMS Affiliation
Department of Psychiatry; Intellectual and Developmental Disabilities Research Center
Publication Date
2012-03-06
Document Type
Article
Subjects
Adolescent; Adult; Aged; Brain; Brain Mapping; Cohort Studies; Diagnostic Imaging; Female; Genetic Variation; Genome-Wide Association Study; Genomics; Genotype; Humans; Male; Middle Aged; Models, Genetic; Phosphoric Diester Hydrolases; Polymorphism, Single Nucleotide; Saccharomyces cerevisiae; Visual Cortex
Disciplines
Genetics and Genomics | Neuroscience and Neurobiology | Psychiatry | Psychiatry and Psychology
Abstract
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.
Rights and Permissions
Publisher PDF posted as allowed by the publisher's author rights policy at http://www.pnas.org/site/aboutpnas/authorfaq.xhtml.
DOI of Published Version
10.1073/pnas.1105829109
Source
Bakken TE et al. Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3985-90. doi: 10.1073/pnas.1105829109. Epub 2012 Feb 16. PubMed PMID: 22343285; PubMed Central PMCID: PMC3309762. Link to article on publisher's site
Journal/Book/Conference Title
Proceedings of the National Academy of Sciences of the United States of America
Related Resources
PubMed ID
22343285
Repository Citation
Bakken TE, Roddey J, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, Murray SS, Sowell ER, Rimol LM, Mattingsdal M, Melle I, Agartz I, Andreassen OA, Schork NJ, Dale AM, Alzheimer’s Disease Neuroimaging Initiative, Pediatric Imaging, Neurocognition, and Genetics Study, Frazier JA, Yakutis L. (2012). Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. Psychiatry Publications and Presentations. https://doi.org/10.1073/pnas.1105829109. Retrieved from https://escholarship.umassmed.edu/psych_pp/576
Included in
Genetics and Genomics Commons, Neuroscience and Neurobiology Commons, Psychiatry Commons, Psychiatry and Psychology Commons
Comments
Full author list omitted for brevity. For the full list of authors, see article appendix. David Kennedy, Jean Frazier and Lauren Yakutis are authors for the Pediatric Imaging, Neurocognition, and Genetics Study.