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    Nat Genet. 2012 Apr 15;44(5):539-44. doi: 10.1038/ng.2245.

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

    Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, Mook-Kanamori DO, Coker LH, Longstreth WT Jr, Niessen WJ, DeStefano AL, Beiser A, Zijdenbos AP, Struchalin M, Jack CR Jr, Rivadeneira F, Uitterlinden AG, Knopman DS, Hartikainen AL, Pennell CE, Thiering E, Steegers EA, Hakonarson H, Heinrich J, Palmer LJ, Jarvelin MR, McCarthy MI, Grant SF, St Pourcain B, Timpson NJ, Smith GD, Sovio U; Early Growth Genetics Consortium, Nalls MA, Au R, Hofman A, Gudnason H, van der Lugt A, Harris TB, Meeks WM, Vernooij MW, van Buchem MA, Catellier D, Jaddoe VW, Gudnason V, Windham BG, Wolf PA, van Duijn CM, Mosley TH Jr, Schmidt H, Launer LJ, Breteler MM, DeCarli C; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.

    Collaborators (73)

    Adair LS, Ang W, Atalay M, vanBeijsterveldt T, Bergen N, Benke K, Berry D, Coin L, Davis OS, Elliott P, Flexeder C, Frayling T, Gaillard R, Groen-Blokhuis M, Goh LK, Haworth CM, Hadley D, Hedebrand J, Hinney A, Hirschhorn JN, Holloway JW, Holst C, Hottenga JJ, Horikoshi M, Huikari V, Hypponen E, Kilpeläinen TO, Kirin M, Kowgier M, Lakka HM, Lange LA, Lawlor DA, Lehtimäki T, Lewin A, Lindgren C, Lindi V, Maggi R, Marsh J, Middeldorp C, Millwood I, Murray JC, Nivard M, Nohr EA, Ntalla I, Oken E, Panoutsopoulou K, Pararajasingham J, Rodriguez A, Salem RM, Sebert S, Siitonen N, Strachan DP, Teo YY, Valcárcel B, Willemsen G, Zeggini E, Boomsma DI, Cooper C, Gillman M, Hocher B, Lakka TA, Mohlke KL, Dedoussis GV, Ong KK, Pearson ER, Price TS, Power C, Raitakari OT, Saw SM, Scherag A, Simell O, Sørensen TI, Wilson JF.

    Source

    Department of Epidemiology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands. m.a.ikram@erasmusmc.nl

    Erratum in

    • Nat Genet. 2012 Jun;44(6):732.

    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.

    PMID:
    22504418
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC3618290
    Free PMC Article

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