Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/88478
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Type: Journal article
Title: Common variants at 6q22 and 17q21 are associated with intracranial volume
Author: Ikram, M.
Fornage, M.
Smith, A.
Seshadri, S.
Schmidt, R.
Debette, S.
Vrooman, H.
Sigurdsson, S.
Ropele, S.
Taal, H.
Mook-Kanamori, D.
Coker, L.
Longstreth Jr, W.
Niessen, W.
DeStefano, A.
Beiser, A.
Zijdenbos, A.
Struchalin, M.
Jack Jr, C.
Rivadeneira, F.
et al.
Citation: Nature Genetics, 2012; 44(5):539-544
Publisher: Nature Publishing Group
Issue Date: 2012
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
M Arfan Ikram ... Lyle J Palmer ... et al. for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
Abstract: 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 × 10−8) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 × 10−11), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 × 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 × 10−3 for 6q22 and 1.2 × 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.
Keywords: Early Growth Genetics Consortium
Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium
Head
Brain
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 17
Humans
Genetic Markers
Polymorphism, Single Nucleotide
Aged
Aged, 80 and over
Infant
Female
Male
Genome-Wide Association Study
Genetic Loci
Rights: © 2012 Nature America, Inc. All rights reserved.
DOI: 10.1038/ng.2245
Grant ID: http://purl.org/au-research/grants/nhmrc/572613
Appears in Collections:Aurora harvest 2
Translational Health Science publications

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