UMMS Affiliation

Department of Psychiatry; Intellectual and Developmental Disabilities Research Center

Date

3-6-2012

Document Type

Article

Medical Subject Headings

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.

Comments

Citation: 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

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.

Publisher PDF posted as allowed by the publisher's author rights policy at http://www.pnas.org/site/aboutpnas/authorfaq.xhtml.

Related Resources

Link to article in PubMed

PubMed ID

22343285

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