Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.
Bakken TE, Roddey JC, Djurovic S et al.
Publication Details
Comprehensive information about this research publication
Authors
Abstract
Summary of the research findings
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.
421 European ancestry individuals
Study Statistics
Key metrics and study information
Analysis
Comprehensive review of health and genetic findings
Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.
Analysis In Progress
Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.
Summary
Key Findings
Health Insights
Disease Analysis
Genetic Trait Analysis
Clinical Relevance
Scientific Assessment
Related Publications
Other publications that may be of interest
Genomic loci influence patterns of structural covariance in the human brain.
Wen J
Proc Natl Acad Sci U S A
Patterns of brain structural covariance (C1024_949)
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Chia R
Proc Natl Acad Sci U S A
Myasthenia gravis
Genome-wide association study reveals genetic variants associated with HIV-1C infection in a Botswana study population.
Shevchenko AK
Proc Natl Acad Sci U S A
HIV-1 susceptibility
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Eising E
Proc Natl Acad Sci U S A
Word reading
CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.
Hosoda Y
Proc Natl Acad Sci U S A
Sub-foveal choroidal thickness
Explore More Research
Discover the latest findings in health and genetic research