New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Research output: Contribution to journalJournal articleResearchpeer-review

Momoko Horikoshi, Hanieh Yaghootkar, Dennis O Mook-Kanamori, Ulla Sovio, H Rob Taal, Branwen J Hennig, Jonathan P Bradfield, Beate St Pourcain, David M Evans, Pimphen Charoen, Marika Kaakinen, Diana L Cousminer, Terho Lehtimäki, Eskil Kreiner-Møller, Nicole M Warrington, Mariona Bustamante, Bjarke Feenstra, Diane J Berry, Elisabeth Thiering, Thiemo Pfab & 31 others Sheila J Barton, Beverley M Shields, Marjan Kerkhof, Elisabeth M van Leeuwen, Anthony J Fulford, Zoltán Kutalik, Jing Hua Zhao, Marcel den Hoed, Anubha Mahajan, Virpi Lindi, Liang-Kee Goh, Jouke-Jan Hottenga, Ying Wu, Olli T Raitakari, Marie N Harder, Aline Meirhaeghe, Ioanna Ntalla, Rany M Salem, Karen A Jameson, Kaixin Zhou, Torben Hansen, Torben Jørgensen, Tuomas O Kilpeläinen, Louise Pedersen, Allan Vaag, Nadja Hawwa Vissing, Daniel R Witte, Oluf Pedersen, Klaus Bønnelykke, Hans Bisgaard, Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC)

Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
Original languageEnglish
JournalNature Genetics
Issue number1
Pages (from-to)76-82
Number of pages7
Publication statusPublished - 2013

    Research areas

  • Adult, Birth Weight, Blood Pressure, Body Height, Diabetes Mellitus, Type 2, Female, Fetal Development, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Infant, Newborn, Male, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Quantitative Trait Loci

ID: 46219418