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Novel genetic loci underlying human intracranial volume identified through genome-wide association

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  • Sudha Seshadri
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Original languageEnglish
Pages (from-to)1569-1582
Number of pages14
JournalNature Neuroscience
Volume19
Issue number12
Early online date3 Oct 2016
DOIs
DateAccepted/In press - 31 Aug 2016
DateE-pub ahead of print - 3 Oct 2016
DatePublished (current) - Dec 2016

Abstract

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.

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    Rights statement: This is the author accepted manuscript (AAM). The final published version (version of record) is available online via Nature at https://www.nature.com/neuro/journal/v19/n12/full/nn.4398.html. Please refer to any applicable terms of use of the publisher.

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