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Common variants at 6q22 and 17q21 are associated with intracranial volume
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2012 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 44, no 5, p. 539-544Article in journal (Refereed) Published
Abstract [en]

During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.

Place, publisher, year, edition, pages
2012. Vol. 44, no 5, p. 539-544
Keywords [en]
aged; article; brain size; cephalometry; chromosome 17q; chromosome 17q21; chromosome 6q; chromosome 6q22; female; gene locus; genetic association; genetic variability; human; male; priority journal
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Medical Genetics
Identifiers
URN: urn:nbn:se:miun:diva-16878DOI: 10.1038/ng.2245ISI: 000303416300014Scopus ID: 2-s2.0-84860342407OAI: oai:DiVA.org:miun-16878DiVA, id: diva2:556469
Note

Erratum published in Nature Genetics 2012 Vol 44 no 6 p732.

Available from: 2012-09-25 Created: 2012-08-29 Last updated: 2018-01-12Bibliographically approved

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Rodriguez, Alina

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