A common variant of HMGA2 is associated with adult and childhood height in the general population
Author
Summary, in English
Human height is a classic, highly heritable quantitative trait. To begin to identify genetic variants influencing height, we examined genome-wide association data from 4,921 individuals. Common variants in the HMGA2 oncogene, exemplified by rs1042725, were associated with height (P= 4x10(-8)). HMGA2 is also a strong biological candidate for height, as rare, severe mutations in this gene alter body size in mice and humans, so we tested rs1042725 in additional samples. We confirmed the association in 19,064 adults from four further studies (P= 3x10(-11), overall P= 4x10(-16), including the genome-wide association data). We also observed the association in children (P=1x 10(-6), N= 6,827) and a tall/short case-control study (P= 4x10(-6), N=3,207). We estimate that rs1042725 explains similar to 0.3% of population variation in height (similar to 0.4 cm increased adult height per C allele). There are few examples of common genetic variants reproducibly associated with human quantitative traits; these results represent, to our knowledge, the first consistently replicated association with adult and childhood height.
Department/s
Publishing year
2007
Language
English
Pages
1245-1250
Publication/Series
Nature Genetics
Volume
39
Issue
10
Document type
Journal article
Publisher
Nature Publishing Group
Topic
- Endocrinology and Diabetes
Status
Published
Research group
- Translational Muscle Research
ISBN/ISSN/Other
- ISSN: 1546-1718