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Common variants at 6q22 and 17q21 are associated with intracranial volume.


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.

SUBMITTER: Ikram MA 

PROVIDER: S-EPMC3618290 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature

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Common variants at 6q22 and 17q21 are associated with intracranial volume.

Ikram M Arfan MA   Fornage Myriam M   Smith Albert V AV   Seshadri Sudha S   Schmidt Reinhold R   Debette Stéphanie S   Vrooman Henri A HA   Sigurdsson Sigurdur S   Ropele Stefan S   Taal H Rob HR   Mook-Kanamori Dennis O DO   Coker Laura H LH   Longstreth W T WT   Niessen Wiro J WJ   DeStefano Anita L AL   Beiser Alexa A   Zijdenbos Alex P AP   Struchalin Maksim M   Jack Clifford R CR   Rivadeneira Fernando F   Uitterlinden Andre G AG   Knopman David S DS   Hartikainen Anna-Liisa AL   Pennell Craig E CE   Thiering Elisabeth E   Steegers Eric A P EA   Hakonarson Hakon H   Heinrich Joachim J   Palmer Lyle J LJ   Jarvelin Marjo-Riitta MR   McCarthy Mark I MI   Grant Struan F A SF   St Pourcain Beate B   Timpson Nicholas J NJ   Smith George Davey GD   Sovio Ulla U   Nalls Mike A MA   Au Rhoda R   Hofman Albert A   Gudnason Haukur H   van der Lugt Aad A   Harris Tamara B TB   Meeks William M WM   Vernooij Meike W MW   van Buchem Mark A MA   Catellier Diane D   Jaddoe Vincent W V VW   Gudnason Vilmundur V   Windham B Gwen BG   Wolf Philip A PA   van Duijn Cornelia M CM   Mosley Thomas H TH   Schmidt Helena H   Launer Lenore J LJ   Breteler Monique M B MM   DeCarli Charles C  

Nature genetics 20120415 5


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 significa  ...[more]

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