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Large-scale genomics unveil polygenic architecture of human cortical surface area.

ABSTRACT: Little is known about how genetic variation contributes to neuroanatomical variability, and whether particular genomic regions comprising genes or evolutionarily conserved elements are enriched for effects that influence brain morphology. Here, we examine brain imaging and single-nucleotide polymorphisms (SNPs) data from ?2,700 individuals. We show that a substantial proportion of variation in cortical surface area is explained by additive effects of SNPs dispersed throughout the genome, with a larger heritable effect for visual and auditory sensory and insular cortices (h(2)?0.45). Genome-wide SNPs collectively account for, on average, about half of twin heritability across cortical regions (N=466 twins). We find enriched genetic effects in or near genes. We also observe that SNPs in evolutionarily more conserved regions contributed significantly to the heritability of cortical surface area, particularly, for medial and temporal cortical regions. SNPs in less conserved regions contributed more to occipital and dorsolateral prefrontal cortices.

SUBMITTER: Chen CH

PROVIDER: S-EPMC4518289 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Large-scale genomics unveil polygenic architecture of human cortical surface area.

Chen Chi-Hua CH Peng Qian Q Schork Andrew J AJ Lo Min-Tzu MT Fan Chun-Chieh CC Wang Yunpeng Y Desikan Rahul S RS Bettella Francesco F Hagler Donald J DJ Westlye Lars T LT Kremen William S WS Jernigan Terry L TL Le Hellard Stephanie S Steen Vidar M VM Espeseth Thomas T Huentelman Matt M Håberg Asta K AK Agartz Ingrid I Djurovic Srdjan S Andreassen Ole A OA Schork Nicholas N Dale Anders M AM

Nature communications 20150720

Little is known about how genetic variation contributes to neuroanatomical variability, and whether particular genomic regions comprising genes or evolutionarily conserved elements are enriched for effects that influence brain morphology. Here, we examine brain imaging and single-nucleotide polymorphisms (SNPs) data from ∼2,700 individuals. We show that a substantial proportion of variation in cortical surface area is explained by additive effects of SNPs dispersed throughout the genome, with a ...[more]

PMID: 26189703

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Large-scale genomics unveil polygenic architecture of human cortical surface area.

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Large-scale genomics unveil polygenic architecture of human cortical surface area.

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