Association study between growth hormone receptor (GHR) gene polymorphisms and obesity in Korean population

Abstract

A main target of growth hormone (GH) is adipose tissue in human body. The GH secretion in obesity patients is impaired. It is needless to say that growth hormone receptor (GHR) is necessary in GH hormone sig- naling. The purpose of the present study is to examine the association between single nucleotide polymorphisms (SNPs) and the development of obesity. A total of 211 overweight/obese subjects with a body mass index (BMI) ≥23 kg/m2 and 157 nonoverweight/obese controls with a BMI of 18.5–23.0 kg/m2 were involved in this study. Seven SNPs includ- ing the rs6451620 (intron), rs4130114 (intron), rs4410646 (intron), rs6898743 (intron), rs4394131 (intron), rs6182 (Cys440Phe), and rs6184 (Pro579Thr) and rs2229765 SNPs of GHR gene were genotyped. Geno- typing was performed using custom DNA chip. SNPStats was used to calculate the odds ratio, 95% confidence interval, and P-value. The link- age disequilibrium block and haplotypes among seven SNPs were de- termined using Haploview version 4.2. Dominant, recessive, and log-ad- ditive genetic models were conducted for genetic analyzing. Among tested SNPs in GHR gene, rs4410646 and rs6898743 showed significant association with obesity (rs4410646, P=0.02 in dominant model and P=0.036 in log-additive model; rs6898743, P=0.039 in dominant model and P=0.044 in log-additive model). In summary, these results suggest that GHR gene polymorphisms might play a role in the development of obesity in the Korean population.