Abstract: 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.

Key words: GABABR2 gene, polymorphism, hypertension, Uyghur