Objective To investigate the association of the polymorphism of rs3750344 and rs1435252 of G-protein family GABABR2 gene with hypertension in population of Xinjiang Uygur. Methods 785 Uygur subjects were surveyed with the cardiovascular phenotypes.Tagging single nucleotide polymorphisms (tSNPs) of rs3750344 and rs1435252 of GABABR2 gene were typed with Taqman. Linkage disequilibrium and haplotype were analysed with Haploview software. Results The frequency of rs1435252 was significantly different (P<0.05) between hypertension group (GG 43.0%, GA 43.6%, AA 13.5%) and normal control group (GG 44.8%, GA 47.6%, AA 7.6%). The subjects with GA/AA genotype significantly increased risk of hypertension (OR=1.38, 95%CI: 1.08~1.76). The associations remained significant after control for age and gender (P<0.05). The frequency of rs3750344 was not significantly different (P=0.204), as TT 71.4%, TC 25.2%, CC 3.5% in the hypertension group, and TT 68.5%, TC 29.6%, CC 1.9% in the normal control group. Conclusion The rs1435252 polymorphism A allele of GABABR2 gene is a risk factor for hypertension in the Uyghur population.

Objective To investigate the association of the polymorphism of rs3750344 and rs1435252 of G-protein family GABABR2 gene with obesity in population of Uygur and Han. Methods 785 Uygur subjects from Xinjiang and 425 Han subjects from Jinan Maternity and Child Care Hospital were recruited by epidemiology survey. Exposure indicators such as body mass index (BMI), total cholesterol (Tch), triglyceride (TG), fasting glucose (Glu) concentration were measured. Two single nucleotide polymorphisms (SNPs) of rs3750344 and rs1435252 of GABABR2 gene were typed with Taqman. Linkage disequilibrium and haplotype were analysed with Haploview software. Results The frequency of rs1435252 was significantly different in AA carries of Uygur subjects between overweight group (12.5%) and normal weight group (6.6%), the subject with AA genotype significantly increased risk of overweight (OR=1.43, 95% CI: 1.06~1.91). The frequency of rs1435252 was significantly different in A alleles carries of Han subjects between obesity group (80.0%) and normal weight group (65.2%), the subject with A alleles significantly increased risk of obesity (OR=2.13, 95%CI: 1.18~3.86). The C alleles of rs3750344 significantly decreased risk of obesity (OR=0.69, 95%CI: 0.49~0.97) in Uygur, but the significance disappeared after controlling for covariates of age and gender. Conclusion The rs1435252 A allele of GABABR2 gene is a risk factor for overweight or obesity in population of Uygur and Han.