A1 Refereed original research article in a scientific journal
Common variants at 12q15 and 12q24 are associated with infant head circumference
Authors: Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Moller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bonnelykke K, Buxton JL, Charoen P, Chawes BLK, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Muller-Nurasyid M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EAP, Sunyer J, Tiesler C, Yaghootkar H, Breteler MMB, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW, Blakemore AIF, Chiavacci RM, Feenstra B, Fernandez-Banet J, Grant SFA, Hartikainen AL, van der Heijden AJ, Iniguez C, Lathrop M, McArdle WL, Molgaard A, Newnham JP, Palmer LJ, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCarthy MI, Koppelman GH, Estivill X, Hattersley AT, Melbye M, Bisgaard H, Pennell CE, Widen E, Hakonarson H, Smith GD, Heinrich J, Jarvelin MR, Jaddoe VWV, Adair LS, Ang W, Atalay M, van Beijsterveldt T, Bergen N, Benke K, Berry D, Bradfield JP, Charoen P, Coin L, Cousminer DL, Das S, Davis OSP, Elliott P, Evans DM, Feenstra B, Flexeder C, Frayling T, Freathy RM, Gaillard R, Geller F, Groen-Blokhuis M, Goh LK, Guxens M, Haworth CMA, Hadley D, Hedebrand J, Hinney A, Hirschhorn JN, Holloway JW, Holst C, Hottenga JJ, Horikoshi M, Huikari V, Hypponen E, Iniguez C, Kaakinen M, Kilpelainen TO, Kirin M, Kowgier M, Lakka HM, Lange LA, Lawlor DA, Lehtimaki T, Lewin A, Lindgren C, Lindi V, Maggi R, Marsh J, Middeldorp C, Millwood I, Mook-Kanamori DO, Murray JC, Nivard M, Nohr EA, Ntalla I, Oken E, O'Reilly PF, Palmer LJ, Panoutsopoulou K, Pararajasingham J, Prokopenko I, Rodriguez A, Salem RM, Sebert S, Siitonen N, Sovio U, St Pourcain B, Strachan DP, Sunyer J, Taal HR, Teo YY, Thiering E, Tiesler C, Uitterlinden AG, Valcarcel B, Warrington NM, White S, Willemsen G, Yaghootkar H, Zeggini E, Boomsma DI, Cooper C, Estivill X, Gillman M, Grant SFA, Hakonarson H, Hattersley AT, Heinrich J, Hocher B, Jaddoe VWV, Jarvelin MR, Lakka TA, McCarthy MI, Melbye M, Mohlke KL, Dedoussis GV, Ong KK, Pearson ER, Pennell CE, Price TS, Power C, Raitakari OT, Saw SM, Scherag A, Simell O, Sorensen TIA, Timpson NJ, Widen E, Wilson JF, Ang W, van Beijsterveldt T, Bergen N, Benke K, Berry D, Bradfield JP, Charoen P, Coin L, Cousminer DL, Das S, Elliott P, Evans DM, Frayling T, Freathy RM, Gaillard R, Groen-Blokhuis M, Guxens M, Hadley D, Hottenga JJ, Huikari V, Hypponen E, Kaakinen M, Kowgier M, Lawlor DA, Lewin A, Lindgren C, Marsh J, Middeldorp C, Millwood I, Mook-Kanamori DO, Nivard M, O'Reilly PF, Palmer LJ, Prokopenko I, Rodriguez A, Sebert S, Sovio U, St Pourcain B, Standl M, Strachan DP, Sunyer J, Taal HR, Thiering E, Tiesler C, Uitterlinden AG, Valcarcel B, Warrington NM, White S, Willemsen G, Yaghootkar H, Boomsma DI, Estivill X, Grant SFA, Hakonarson H, Hattersley AT, Heinrich J, Jaddoe VWV, Jarvelin MR, McCarthy MI, Pennell CE, Power C, Timpson NJ, Widen E, Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Coker LH, Longstreth WT, Niessen WJ, DeStefano AL, Beiser A, Zijdenbos AP, Struchalin M, Jack CR, Nalls MA, Au R, Hofman A, Gudnason H, van der Lugt A, Harris TB, Meeks WM, Vernooij MW, van Buchem MA, Catellier D, Gudnason V, Windham BG, Wolf PA, van Duijn CM, Mosley TH, Schmidt H, Launer LJ, Breteler MMB, DeCarli C
Publisher: NATURE PUBLISHING GROUP
Publication year: 2012
Journal: Nature Genetics
Journal name in source: NATURE GENETICS
Journal acronym: NAT GENET
Number in series: 5
Volume: 44
Issue: 5
First page : 532
Last page: 538
Number of pages: 9
ISSN: 1061-4036
DOI: https://doi.org/10.1038/ng.2238
To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
