New Loci Associated With Birth Weight Identify Genetic Links Between Intrauterine Growth and Adult Height and Metabolism

Nat Genet. 2013 Jan;45(1):76-82. doi: 10.1038/ng.2477. Epub 2012 Dec 2.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

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

Grant support