The University of Southampton
University of Southampton Institutional Repository

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

Common variants at 12q15 and 12q24 are associated with infant head circumference
Common variants at 12q15 and 12q24 are associated with infant head circumference
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.
1061-4036
532-538
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Saw, Seang-Mei
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Sørensen, Thorkild I A
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Wilson, James F
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Taal, H Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O, Warrington, Nicole M, Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P, Freathy, Rachel M, Geller, Frank, Guxens, Mònica, Cousminer, Diana L, Kerkhof, Marjan, Timpson, Nicholas J, Ikram, M Arfan, Beilin, Lawrence J, Bønnelykke, 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, Müller-Nurasyid, Martina, O'Reilly, Paul F, Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A P, Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V, Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A, Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H, Longstreth, W T, Niessen, Wiro J, DeStefano, Anita L, Beiser, Alexa, Zijdenbos, Alex P, Struchalin, Maksim, Jack, Clifford R, Nalls, Mike A, Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B, Meeks, William M, Vernooij, Meike W, van Buchem, Mark A, Catellier, Diane, Gudnason, Vilmundur, Windham, B Gwen, Wolf, Philip A, van Duijn, Cornelia M, Mosley, Thomas H, Schmidt, Helena, Launer, Lenore J, Breteler, Monique M B, DeCarli, Charles, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A, Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J, Rodriguez, Alina, Sebert, Sylvain, Sovio, Ulla, Standl, Marie, Strachan, David P, Uitterlinden, Andre G, Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I, Estivill, Xavier, Grant, Struan F A, Hakonarson, Hakon, Hattersley, Andrew T, Heinrich, Joachim, Jaddoe, Vincent W V, Jarvelin, Marjo-Riitta, McCarthy, Mark I, Pennell, Craig E, Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I F, Chiavacci, Rosetta M, Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J, Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L, Mølgaard, Anne, Newnham, John P, Palotie, Aarno, Pouta, Annneli, Ring, Susan M, Wichmann, H-Erich, Vissing, Nadja Hawwa, Koppelman, Gerard H, Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S, Atalay, Mustafa, Davis, Oliver S P, Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M A, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N, Holloway, John W, Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O, Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A, Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M, Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Gillman, Matthew, Hocher, Berthold, Lakka, Timo A, Mohlke, Karen L, Dedoussis, George V, Ong, Ken K, Pearson, Ewan R, Price, Thomas S, Raitakari, Olli T, Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I A and Wilson, James F (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5), 532-538. (doi:10.1038/ng.2238). (PMID:22504419)

Record type: Article

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.

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e-pub ahead of print date: 15 April 2012
Organisations: Human Development & Health

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Local EPrints ID: 337513
URI: http://eprints.soton.ac.uk/id/eprint/337513
ISSN: 1061-4036
PURE UUID: 990c8f90-2639-4119-a179-7342af36fd86
ORCID for John W Holloway: ORCID iD orcid.org/0000-0001-9998-0464
ORCID for Cyrus Cooper: ORCID iD orcid.org/0000-0003-3510-0709

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Date deposited: 26 Apr 2012 13:08
Last modified: 18 Mar 2024 02:47

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Contributors

Author: H Rob Taal
Author: Beate St Pourcain
Author: Elisabeth Thiering
Author: Shikta Das
Author: Dennis O Mook-Kanamori
Author: Nicole M Warrington
Author: Marika Kaakinen
Author: Eskil Kreiner-Møller
Author: Jonathan P Bradfield
Author: Rachel M Freathy
Author: Frank Geller
Author: Mònica Guxens
Author: Diana L Cousminer
Author: Marjan Kerkhof
Author: Nicholas J Timpson
Author: M Arfan Ikram
Author: Lawrence J Beilin
Author: Klaus Bønnelykke
Author: Jessica L Buxton
Author: Pimphen Charoen
Author: Bo Lund Krogsgaard Chawes
Author: Johan Eriksson
Author: David M Evans
Author: Albert Hofman
Author: John P Kemp
Author: Cecilia E Kim
Author: Norman Klopp
Author: Jari Lahti
Author: Stephen J Lye
Author: George McMahon
Author: Frank D Mentch
Author: Martina Müller-Nurasyid
Author: Paul F O'Reilly
Author: Inga Prokopenko
Author: Fernando Rivadeneira
Author: Eric A P Steegers
Author: Jordi Sunyer
Author: Carla Tiesler
Author: Hanieh Yaghootkar
Author: Myriam Fornage
Author: Albert V Smith
Author: Sudha Seshadri
Author: Reinhold Schmidt
Author: Stéphanie Debette
Author: Henri A Vrooman
Author: Sigurdur Sigurdsson
Author: Stefan Ropele
Author: Laura H Coker
Author: W T Longstreth
Author: Wiro J Niessen
Author: Anita L DeStefano
Author: Alexa Beiser
Author: Alex P Zijdenbos
Author: Maksim Struchalin
Author: Clifford R Jack
Author: Mike A Nalls
Author: Rhoda Au
Author: Haukur Gudnason
Author: Aad van der Lugt
Author: Tamara B Harris
Author: William M Meeks
Author: Meike W Vernooij
Author: Mark A van Buchem
Author: Diane Catellier
Author: Vilmundur Gudnason
Author: B Gwen Windham
Author: Philip A Wolf
Author: Cornelia M van Duijn
Author: Thomas H Mosley
Author: Helena Schmidt
Author: Lenore J Launer
Author: Monique M B Breteler
Author: Charles DeCarli
Author: Wei Ang
Author: Toos van Beijsterveldt
Author: Nienke Bergen
Author: Kelly Benke
Author: Diane Berry
Author: Lachlan Coin
Author: Paul Elliott
Author: Tim Frayling
Author: Romy Gaillard
Author: Maria Groen-Blokhuis
Author: Dexter Hadley
Author: Jouke Jan Hottenga
Author: Ville Huikari
Author: Elina Hypponen
Author: Matthew Kowgier
Author: Debbie A Lawlor
Author: Alex Lewin
Author: Cecilia Lindgren
Author: Julie Marsh
Author: Christel Middeldorp
Author: Iona Millwood
Author: Michel Nivard
Author: Lyle J Palmer
Author: Alina Rodriguez
Author: Sylvain Sebert
Author: Ulla Sovio
Author: Marie Standl
Author: David P Strachan
Author: Andre G Uitterlinden
Author: Beatriz Valcárcel
Author: Scott White
Author: Gonneke Willemsen
Author: Dorret I Boomsma
Author: Xavier Estivill
Author: Struan F A Grant
Author: Hakon Hakonarson
Author: Andrew T Hattersley
Author: Joachim Heinrich
Author: Vincent W V Jaddoe
Author: Marjo-Riitta Jarvelin
Author: Mark I McCarthy
Author: Craig E Pennell
Author: Chris Power
Author: Elisabeth Widen
Author: Alexandra I F Blakemore
Author: Rosetta M Chiavacci
Author: Bjarke Feenstra
Author: Julio Fernandez-Banet
Author: Anna-Liisa Hartikainen
Author: Albert J van der Heijden
Author: Carmen Iñiguez
Author: Mark Lathrop
Author: Wendy L McArdle
Author: Anne Mølgaard
Author: John P Newnham
Author: Aarno Palotie
Author: Annneli Pouta
Author: Susan M Ring
Author: H-Erich Wichmann
Author: Nadja Hawwa Vissing
Author: Gerard H Koppelman
Author: Mads Melbye
Author: Hans Bisgaard
Author: George Davey Smith
Author: Linda S Adair
Author: Mustafa Atalay
Author: Oliver S P Davis
Author: Claudia Flexeder
Author: Liang-Kee Goh
Author: Claire M A Haworth
Author: Johannes Hedebrand
Author: Anke Hinney
Author: Joel N Hirschhorn
Author: John W Holloway ORCID iD
Author: Claus Holst
Author: Momoko Horikoshi
Author: Tuomas O Kilpeläinen
Author: Mirna Kirin
Author: Hanna-Maaria Lakka
Author: Leslie A Lange
Author: Terho Lehtimäki
Author: Virpi Lindi
Author: Reedik Maggi
Author: Jeffrey C Murray
Author: Ellen Aagaard Nohr
Author: Ioanna Ntalla
Author: Emily Oken
Author: Kalliope Panoutsopoulou
Author: Jennifer Pararajasingham
Author: Rany M Salem
Author: Niina Siitonen
Author: Yik-Ying Teo
Author: Eleftheria Zeggini
Author: Cyrus Cooper ORCID iD
Author: Matthew Gillman
Author: Berthold Hocher
Author: Timo A Lakka
Author: Karen L Mohlke
Author: George V Dedoussis
Author: Ken K Ong
Author: Ewan R Pearson
Author: Thomas S Price
Author: Olli T Raitakari
Author: Seang-Mei Saw
Author: Andre Scherag
Author: Olli Simell
Author: Thorkild I A Sørensen
Author: James F Wilson

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