A common variant of HMGA2 is associated with adult and childhood height in the general population

Weedon, M. N., Wellcome Trust Case Control Consortium, Brown, Matthew A., Bradbury, Linda A. and et al. (2007) A common variant of HMGA2 is associated with adult and childhood height in the general population. Nature Genetics, 39 10: 1245-1250. doi:10.1038/ng2121


Author Weedon, M. N.
Wellcome Trust Case Control Consortium
Brown, Matthew A.
Bradbury, Linda A.
et al.
Title A common variant of HMGA2 is associated with adult and childhood height in the general population
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
1546-1718
Publication date 2007-10
Sub-type Article (original research)
DOI 10.1038/ng2121
Volume 39
Issue 10
Start page 1245
End page 1250
Total pages 6
Editor Myles Axton
Place of publication New York, U.S.A.
Publisher Nature Publishing Group
Language eng
Subject 1114 Paediatrics and Reproductive Medicine
1103 Clinical Sciences
Formatted abstract
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 = 4 × 10 -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 = 3 × 10-11, overall P = 4 × 10-16, including the genome-wide association data). We also observed the association in children (P = 1 × 10-6, N = 6,827) and a tall/short case-control study (P = 4 × 10-6, N = 3,207). We estimate that rs1042725 explains ∼0.3% of population variation in height (∼0.4 cm increased adult height per C allele). There are few examples of common genetic variants reproducibly associated with human quantitativetraits; these results represent, to our knowledge, the first consistently replicated association with adult and childhood height.

Keyword Body height
Case-control studies
Child
Genotype
HMGA2 protein
Linkage Disequilibrium
Polymorphism
Single Nucleotide
Variation (Genetics)
Q-Index Code C1
Q-Index Status Provisional Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
ERA 2012 Admin Only
UQ Diamantina Institute Publications
 
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Created: Thu, 01 Apr 2010, 08:35:26 EST by June Temby on behalf of UQ Diamantina Institute