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

Chen, Chi-Hua; Peng, Qian; Schork, Andrew J.; Lo, Min-Tzu; Fan, Chun-Chieh; Wang, Yunpeng; Desikan, Rahul S.; Bettella, Franscesco; Hagler, Donald J.; Westlye, Lars Tjelta; Kremen, William S.; Jernigan, Terry L.; Le Hellard, Stephanie; Steen, Vidar Martin; Espeseth, Thomas; Huentelman, Matt; Håberg, Asta; Agartz, Ingrid; Djurovic, Srdjan; Andreassen, Ole Andreas; Schork, Nicholas; Dale, Anders
Journal article, Peer reviewed
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ncomms8549.pdf (661.8Kb)
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http://hdl.handle.net/11250/2356435
Utgivelsesdato
2015
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  • Institutt for nevromedisin og bevegelsesvitenskap [2360]
  • Publikasjoner fra CRIStin - NTNU [26751]
Originalversjon
Nature Communications 2015, 6:7549   10.1038/ncomms8549
Sammendrag
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 B2,700 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 (h2B0.45). Genome-wide SNPs collectively account for, on

average, about half of twin heritability across cortical regions (N¼466 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.
Utgiver
Nature Publishing Group
Tidsskrift
Nature Communications

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