Haplotyping of GH1 Gene Proximal to Promoter Region and the Association with Adult Height in Chinese Han Population

Objective The aim of this study is to investigate the single nucleotide polymorphisms(SNPs) located at the GH1 gene proximal to promoter region in Chinese Han population, and to explore its haplotype association with adult height. Methods SNP typing was performed by direct DNA sequencing in a control Chinese population of 109 unrelated male adults. By using both allele-specific PCR and the Haploview software, the haplotypes on the basis of the SNPs were obtained. Haplo.stats software was employed to analyze the association between haplotype and adult height. Results 69 samples were successfully genotyped with 34 samples bearing at least two polymorphic sites. 13 SNPs were found in the GH1 gene proximal to promoter region in Chinese Han population, and three of them located at sites of-261,-250 and +20, were discovered for the first time. The same results of haplotypes were obtained by using both allele-specific PCR and Haploview software. Three tag SNPs were found at-278,-57 and-6 sites. Seven haplotypes were detected(GGA、GGG、GTA、TGA、TGG、TTA、TTG), and statistical results indicated that people with TTA, GGG and TTG haplotypes were significantly shorter in height than those with GTA, the most common type in Chinese Han population(P0.05). Conclusions Computation of haplotypes on SNPs based on the population data is relatively correct and can be applied to the haplotype analysis independently. The GH1 gene proximal to promoter region in Chinese Han population is highly polymorphic and differs among races, and its haplotypes may contribute to the human height. Taken together, this paper provides essential data on the associations between human height and GH1 proximal haplotypes.