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Common variants at 12q15 and 12q24 are associated with infant head circumference.
Taal, H. R. ; Pourcain, B. S. ; Thiering, E. ; Das, S. ; Mook-Kanamori, D. O. ; Warrington, N. M. ; Kaakinen, M. ; Kreiner-Møller, E. ; Bradfield, J. P. ; Freathy, R. M. ; Geller, F. ; Guxens, M. ; Cousminer, D. L. ; Kerkhof, M. ; Timpson, N. J. ; Ikram, M. A. ; Beilin, L. J. ; Bønnelykke, K. ; Buxton, J. L. ; Charoen, P. ; Chawes, B. L. K. ; Eriksson, J. ; Evans, D. M. ; Hofman, A. ; Kemp, J. P. ; Kim, C. E. ; Klopp, N. ; Lahti, J. ; Lye, S. J. ; McMahon, G. ; Mentch, F. D. ; Müller, M. ; O'Reilly, P. F. ; Prokopenko, I. ; Rivadeneira, F. ; Steegers, E. A. P. ; Sunyer, J. ; Tiesler, C. ; Yaghootkar, H. ; Epidemiology, C. f. H. a. A. R. i. G. ; Breteler, M. M. B.DZNE* ; Debette, S. ; Fornage, M. ; Gudnason, V. ; Launer, L. J. ; van der Lugt, A. ; Mosley, T. H. ; Seshadri, S. ; Smith, A. V. ; Vernooij, M. W. ; Epidemiology, E. G. &. L. ; Blakemore, A. I. ; Chiavacci, R. M. ; Feenstra, B. ; Fernandez-Benet, J. ; Grant, S. F. A. ; Hartikainen, A.-L. ; van der Heijden, A. J. ; Iñiguez, C. ; Lathrop, M. ; McArdle, W. L. ; Mølgaard, A. ; Newnham, J. P. ; Palmer, L. J. ; Palotie, A. ; Pouta, A. ; Ring, S. M. ; Sovio, U. ; Standl, M. ; Uitterlinden, A. G. ; Wichmann, H.-E. ; Vissing, N. H. ; DeCarli, C. ; van Duijn, C. M. ; McCarthy, M. I. ; Koppelman, G. H. ; Estivill, X. ; Hattersley, A. T. ; Melbye, M. ; Bisgaard, H. ; Pennell, C. E. ; Widen, E. ; Hakonarson, H. ; Smith, G. D. (Corresponding author) ; Heinrich, J. (Corresponding author) ; Jarvelin, M.-R. (Corresponding author) ; Genetics, E. G. ; Jaddoe, V. W. V. (Corresponding author) ; Adair, L. S. ; Ang, W. ; Atalay, M. ; van Beijsterveldt, T. ; Bergen, N. ; Benke, K. ; Berry, D. ; Bradfield, J. P. ; Charoen, P. ; Coin, L. ; Cousminer, D. L. ; Das, S. ; Davis, O. S. P. ; Elliott, P. ; Evans, D. M. ; Feenstra, B. ; Flexeder, C. ; Frayling, T. ; Freathy, R. M. ; Gaillard, R. ; Geller, F. ; Groen-Blokhuis, M. ; Goh, L.-K. ; Guxens, M. ; Haworth, C. M. A. ; Hadley, D. ; Hedebrand, J. ; Hinney, A. ; Hirschhorn, J. N. ; Holloway, J. W. ; Holst, C. ; Hottenga, J. J. ; Horikoshi, M. ; Huikari, V. ; Hypponen, E. ; Iñiguez, C. ; Kaakinen, M. ; Kilpeläinen, T. O. ; Kirin, M. ; Kowgier, M. ; Lakka, H.-M. ; Lange, L. A. ; Lawlor, D. A. ; Lehtimäki, T. ; Lewin, A. ; Lindgren, C. ; Lindi, V. ; Maggi, R. ; Marsh, J. ; Middeldorp, C. ; Millwood, I. ; Mook-Kanamori, D. O. ; Murray, J. C. ; Nivard, M. ; Nohr, E. A. ; Ntalla, I. ; Oken, E. ; O'Reilly, P. F. ; Palmer, L. J. ; Panoutsopoulou, K. ; Pararajasingham, J. ; Prokopenko, I. ; Rodriguez, A. ; Salem, R. M. ; Sebert, S. ; Siitonen, N. ; Sovio, U. ; St Pourcain, B. ; Strachan, D. P. ; Sunyer, J. ; Taal, H. R. ; Teo, Y.-Y. ; Thiering, E. ; Tiesler, C. ; Uitterlinden, A. G. ; Valcárcel, B. ; Warrington, N. M. ; White, S. ; Willemsen, G. ; Yaghootkar, H. ; Zeggini, E. ; Boomsma, D. I. ; Cooper, C. ; Estivill, X. ; Gillman, M. ; Grant, S. F. A. ; Hakonarson, H. ; Hattersley, A. T. ; Heinrich, J. ; Hocher, B. ; Jaddoe, V. W. V. ; Jarvelin, M.-R. ; Lakka, T. A. ; McCarthy, M. I. ; Melbye, M. ; Mohlke, K. L. ; Dedoussis, G. V. ; Ong, K. K. ; Pearson, E. R. ; Pennell, C. E. ; Price, T. S. ; Power, C. ; Raitakari, O. T. ; Saw, S.-M. ; Scherag, A. ; Simell, O. ; Sørensen, T. I. A. ; Timpson, N. J. ; Widen, E. ; Wilson, J. F. ; Ang, W. ; van Beijsterveldt, T. ; Bergen, N. ; Benke, K. ; Berry, D. ; Bradfield, J. P. ; Charoen, P. ; Coin, L. ; Cousminer, D. L. ; Das, S. ; Elliott, P. ; Evans, D. M. ; Frayling, T. ; Freathy, R. M. ; Gaillard, R. ; Groen-Blokhuis, M. ; Guxens, M. ; Hadley, D. ; Hottenga, J. J. ; Huikari, V. ; Hypponen, E. ; Kaakinen, M. ; Kowgier, M. ; Lawlor, D. A. ; Lewin, A. ; Lindgren, C. ; Marsh, J. ; Middeldorp, C. ; Millwood, I. ; Mook-Kanamori, D. O. ; Nivard, M. ; O'Reilly, P. F. ; Palmer, L. J. ; Prokopenko, I. ; Rodriguez, A. ; Sebert, S. ; Sovio, U. ; St Pourcain, B. ; Standl, M. ; Strachan, D. P. ; Sunyer, J. ; Taal, H. R. ; Thiering, E. ; Tiesler, C. ; Uitterlinden, A. G. ; Valcárcel, B. ; Warrington, N. M. ; White, S. ; Willemsen, G. ; Yaghootkar, H. ; Boomsma, D. I. ; Estivill, X. ; Grant, S. F. A. ; Hakonarson, H. ; Hattersley, A. T. ; Heinrich, J. ; Jaddoe, V. W. V. ; Jarvelin, M.-R. ; McCarthy, M. I. ; Pennell, C. E. ; Power, C. ; Timpson, N. J. ; Widen, E. ; Ikram, M. A. ; Fornage, M. ; Smith, A. V. ; Seshadri, S. ; Schmidt, R. ; Debette, S. ; Vrooman, H. A. ; Ropele, S. ; Sigurdsson, S. ; Coker, L. H. ; Longstreth, W. T. ; Niessen, W. J. ; DeStefano, A. L. ; Beiser, A. ; Zijdenbos, A. P. ; Struchalin, M. ; Jack, C. R. ; Nalls, M. A. ; Au, R. ; Hofman, A. ; Gudnason, H. ; van der Lugt, A. ; Harris, T. B. ; Meeks, W. M. ; Vernooij, M. W. ; van Buchem, M. A. ; Catellier, D. ; Gudnason, V. ; Windham, B. G. ; Wolf, P. A. ; van Duijn, C. M. ; Mosley, T. H. ; Schmidt, H. ; Launer, L. J. ; Breteler, M. M. B. ; DeCarli, C.
2012
Macmillan Publishers Limited, part of Springer Nature
London
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Please use a persistent id in citations: doi:10.1038/ng.2238
Abstract: 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 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height, their effects on infant head circumference were largely independent of height (P = 3.8 × 10(-7) for rs7980687 and P = 1.3 × 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 × 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume, Parkinson's disease and other neurodegenerative diseases, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Keyword(s): Chromosomes, Human, Pair 12: genetics (MeSH) ; European Continental Ancestry Group: genetics (MeSH) ; Female (MeSH) ; Genetic Loci (MeSH) ; Genetic Markers (MeSH) ; Genome-Wide Association Study (MeSH) ; Head: growth & development (MeSH) ; Head: pathology (MeSH) ; Humans (MeSH) ; Infant (MeSH) ; Male (MeSH) ; Meta-Analysis as Topic (MeSH) ; Polymorphism, Single Nucleotide: genetics (MeSH) ; Pregnancy (MeSH) ; Pregnancy Complications: etiology (MeSH) ; Pregnancy Complications: pathology (MeSH) ; Genetic Markers
Contributing Institute(s):
- Population Health Sciences (AG Breteler 1)
Research Program(s):
- 345 - Population Studies and Genetics (POF3-345) (POF3-345)
Appears in the scientific report
2012
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