Common variants at 12q15 and 12q24 are associated with infant head circumference

H. Rob Taal, Beate St Pourcain, Elisabeth Thiering, Shikta Das, Dennis O. Mook-Kanamori, Nicole M. Warrington, Marika Kaakinen, Eskil Kreiner-Moller, Jonathan P. Bradfield, Rachel M. Freathy, Frank Geller, Monica Guxens, Diana L. Cousminer, Marjan Kerkhof, Nicholas J. Timpson, M. Arfan Ikram, Lawrence J. Beilin, Klaus Bonnelykke, Jessica L. Buxton, Pimphen Charoen & 31 others Bo Lund Krogsgaard Chawes, Johan Eriksson, David M. Evans, Albert Hofman, John P. Kemp, Cecilia E. Kim, Norman Klopp, Jari Lahti, Stephen J. Lye, George McMahon, Frank D. Mentch, Martina Mueller-Nurasyid, Paul F. O'Reilly, Inga Prokopenko, Fernando Rivadeneira, Eric A. P. Steegers, Jordi Sunyer, Carla Tiesler, Hanieh Yaghootkar, Monique M. B. Breteler, Stephanie Debette, Myriam Fornage, Vilmundur Gudnason, Lenore J. Launer, Aad van der Lugt, Thomas H. Mosley, Sudha Seshadri, Albert V. Smith, Meike W. Vernooij, Ewan R. Pearson, Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep

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    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 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.</p>
    Original languageEnglish
    Pages (from-to)532-538
    Number of pages9
    JournalNature Genetics
    Volume44
    Issue number5
    DOIs
    Publication statusPublished - May 2012

    Cite this

    Taal, H. R., St Pourcain, B., Thiering, E., Das, S., Mook-Kanamori, D. O., Warrington, N. M., ... Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep (2012). Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44(5), 532-538. https://doi.org/10.1038/ng.2238
    Taal, H. Rob ; St Pourcain, Beate ; Thiering, Elisabeth ; Das, Shikta ; Mook-Kanamori, Dennis O. ; Warrington, Nicole M. ; Kaakinen, Marika ; Kreiner-Moller, Eskil ; Bradfield, Jonathan P. ; Freathy, Rachel M. ; Geller, Frank ; Guxens, Monica ; Cousminer, Diana L. ; Kerkhof, Marjan ; Timpson, Nicholas J. ; Ikram, M. Arfan ; Beilin, Lawrence J. ; Bonnelykke, Klaus ; Buxton, Jessica L. ; Charoen, Pimphen ; Chawes, Bo Lund Krogsgaard ; Eriksson, Johan ; Evans, David M. ; Hofman, Albert ; Kemp, John P. ; Kim, Cecilia E. ; Klopp, Norman ; Lahti, Jari ; Lye, Stephen J. ; McMahon, George ; Mentch, Frank D. ; Mueller-Nurasyid, Martina ; O'Reilly, Paul F. ; Prokopenko, Inga ; Rivadeneira, Fernando ; Steegers, Eric A. P. ; Sunyer, Jordi ; Tiesler, Carla ; Yaghootkar, Hanieh ; Breteler, Monique M. B. ; Debette, Stephanie ; Fornage, Myriam ; Gudnason, Vilmundur ; Launer, Lenore J. ; van der Lugt, Aad ; Mosley, Thomas H. ; Seshadri, Sudha ; Smith, Albert V. ; Vernooij, Meike W. ; Pearson, Ewan R. ; Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep. / Common variants at 12q15 and 12q24 are associated with infant head circumference. In: Nature Genetics. 2012 ; Vol. 44, No. 5. pp. 532-538.
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    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 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.",
    author = "Taal, {H. Rob} and {St Pourcain}, Beate and Elisabeth Thiering and Shikta Das and Mook-Kanamori, {Dennis O.} and Warrington, {Nicole M.} and Marika Kaakinen and Eskil Kreiner-Moller and Bradfield, {Jonathan P.} and Freathy, {Rachel M.} and Frank Geller and Monica Guxens and Cousminer, {Diana L.} and Marjan Kerkhof and Timpson, {Nicholas J.} and Ikram, {M. Arfan} and Beilin, {Lawrence J.} and Klaus Bonnelykke and Buxton, {Jessica L.} and Pimphen Charoen and Chawes, {Bo Lund Krogsgaard} and Johan Eriksson and Evans, {David M.} and Albert Hofman and Kemp, {John P.} and Kim, {Cecilia E.} and Norman Klopp and Jari Lahti and Lye, {Stephen J.} and George McMahon and Mentch, {Frank D.} and Martina Mueller-Nurasyid and O'Reilly, {Paul F.} and Inga Prokopenko and Fernando Rivadeneira and Steegers, {Eric A. P.} and Jordi Sunyer and Carla Tiesler and Hanieh Yaghootkar and Breteler, {Monique M. B.} and Stephanie Debette and Myriam Fornage and Vilmundur Gudnason and Launer, {Lenore J.} and {van der Lugt}, Aad and Mosley, {Thomas H.} and Sudha Seshadri and Smith, {Albert V.} and Vernooij, {Meike W.} and Pearson, {Ewan R.} and {Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep}",
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    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, Mueller-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, Pearson, ER & Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep 2012, 'Common variants at 12q15 and 12q24 are associated with infant head circumference', Nature Genetics, vol. 44, no. 5, pp. 532-538. https://doi.org/10.1038/ng.2238

    Common variants at 12q15 and 12q24 are associated with infant head circumference. / Taal, H. Rob; St Pourcain, Beate; Thiering, Elisabeth; Das, Shikta; Mook-Kanamori, Dennis O.; Warrington, Nicole M.; Kaakinen, Marika; Kreiner-Moller, Eskil; Bradfield, Jonathan P.; Freathy, Rachel M.; Geller, Frank; Guxens, Monica; Cousminer, Diana L.; Kerkhof, Marjan; Timpson, Nicholas J.; Ikram, M. Arfan; Beilin, Lawrence J.; Bonnelykke, Klaus; Buxton, Jessica L.; Charoen, Pimphen; Chawes, Bo Lund Krogsgaard; Eriksson, Johan; Evans, David M.; Hofman, Albert; Kemp, John P.; Kim, Cecilia E.; Klopp, Norman; Lahti, Jari; Lye, Stephen J.; McMahon, George; Mentch, Frank D.; Mueller-Nurasyid, Martina; O'Reilly, Paul F.; Prokopenko, Inga; Rivadeneira, Fernando; Steegers, Eric A. P.; Sunyer, Jordi; Tiesler, Carla; Yaghootkar, Hanieh; Breteler, Monique M. B.; Debette, Stephanie; Fornage, Myriam; Gudnason, Vilmundur; Launer, Lenore J.; van der Lugt, Aad; Mosley, Thomas H.; Seshadri, Sudha; Smith, Albert V.; Vernooij, Meike W.; Pearson, Ewan R.; Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep.

    In: Nature Genetics, Vol. 44, No. 5, 05.2012, p. 532-538.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Common variants at 12q15 and 12q24 are associated with infant head circumference

    AU - Taal, H. Rob

    AU - St Pourcain, Beate

    AU - Thiering, Elisabeth

    AU - Das, Shikta

    AU - Mook-Kanamori, Dennis O.

    AU - Warrington, Nicole M.

    AU - Kaakinen, Marika

    AU - Kreiner-Moller, Eskil

    AU - Bradfield, Jonathan P.

    AU - Freathy, Rachel M.

    AU - Geller, Frank

    AU - Guxens, Monica

    AU - Cousminer, Diana L.

    AU - Kerkhof, Marjan

    AU - Timpson, Nicholas J.

    AU - Ikram, M. Arfan

    AU - Beilin, Lawrence J.

    AU - Bonnelykke, Klaus

    AU - Buxton, Jessica L.

    AU - Charoen, Pimphen

    AU - Chawes, Bo Lund Krogsgaard

    AU - Eriksson, Johan

    AU - Evans, David M.

    AU - Hofman, Albert

    AU - Kemp, John P.

    AU - Kim, Cecilia E.

    AU - Klopp, Norman

    AU - Lahti, Jari

    AU - Lye, Stephen J.

    AU - McMahon, George

    AU - Mentch, Frank D.

    AU - Mueller-Nurasyid, Martina

    AU - O'Reilly, Paul F.

    AU - Prokopenko, Inga

    AU - Rivadeneira, Fernando

    AU - Steegers, Eric A. P.

    AU - Sunyer, Jordi

    AU - Tiesler, Carla

    AU - Yaghootkar, Hanieh

    AU - Breteler, Monique M. B.

    AU - Debette, Stephanie

    AU - Fornage, Myriam

    AU - Gudnason, Vilmundur

    AU - Launer, Lenore J.

    AU - van der Lugt, Aad

    AU - Mosley, Thomas H.

    AU - Seshadri, Sudha

    AU - Smith, Albert V.

    AU - Vernooij, Meike W.

    AU - Pearson, Ewan R.

    AU - Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep

    PY - 2012/5

    Y1 - 2012/5

    N2 - 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.

    AB - 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.

    U2 - 10.1038/ng.2238

    DO - 10.1038/ng.2238

    M3 - Article

    VL - 44

    SP - 532

    EP - 538

    JO - Nature Genetics

    JF - Nature Genetics

    SN - 1061-4036

    IS - 5

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    Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics. 2012 May;44(5):532-538. https://doi.org/10.1038/ng.2238