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.
Original language | English |
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Pages (from-to) | 76-82 |
Number of pages | 7 |
Journal | Nature Genetics |
Volume | 45 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 2013 |
Externally published | Yes |
Keywords
- 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