HMGA2 Is Confirmed To Be Associated with Human Adult Height

作者:Yang, Tie-Lin; Guo, Yan; Zhang, Li-Shu; Tian, Qing; Yan, Han; Guo, Yan-Fang; Deng, Hong-Wen*
来源:Annals of Human Genetics, 2010, 74: 11-16.
DOI:10.1111/j.1469-1809.2009.00555.x

摘要

P>Recent genome-wide association studies have identified a novel polymorphism, rs1042725, in the HMGA2 gene for human adult height, a highly heritable complex trait. Replications in independent populations are needed to evaluate a positive finding and determine its generality. Thus, we performed a replication study to examine the associations between polymorphisms in HMGA2 and adult height in two US Caucasian populations (an unrelated sample of 998 subjects and a family-based sample of 8385 subjects) and a Chinese population (1638 unrelated Han subjects). We confirmed the association between rs1042725 in HMGA2 and adult height both in the unrelated and family-based Caucasian populations (overall P = 4.25 x 10-9). Another two SNPs (rs7968902 and rs7968682), which were in high linkage disequilibrium with rs1042725, also achieved the significance level in both Caucasian populations (overall P = 6.34 x 10-7, and 2.72 x 10-9, respectively). Our results provide strong support to the initial finding. Moreover, SNP rs1042725 was firstly found to be associated with adult height (P = 0.008) in the Chinese population, and the effect is in the same direction as in the Caucasian populations, suggesting that it is a common variant across different populations. Our study further highlights the importance of the HMGA2 gene's involvement in normal growth.