Abstract:

Objective To explore the relationship between functional single nucleotide polymorphisms (SNPs) of regulator of G-protein signaling 5（RGS5） and ATP1B1 and essential hypertension, as well as the interaction among genetic variations in Chinese Han populations. Methods Tag-SNPs in promoter, exons and 3'UTR with minor allele frequency >5% in the Chinese Han population in Beijing were selected to capture the common variation in or around this gene with a minimum R² of 0.80. Tag single SNPs of RGS5 and ATP1B1 were genotyped in 906 patients with essential hypertension (EH group) and 894 age- and gender-matched normotensive controls (control group). The allelic frequency and genotype distribution between EH group and control group were analysed. MDR software was employed to analyse the interaction between SNPs selected. Results Three SNPs were selected and genotyped. There was no significant difference in the allelic frequency and genotype distribution between EH group and normal control group（P>0.05）. Haplotype-based analysis revealed no significant difference for the haplotype distribution between EH group and normal control group（P>0.05）. There was no significant difference in the interaction model between two and three SNPs analysed by MDR（P>0.05）. Conclusion There is no significant association between 3 SNPs selected and EH, and there may be no interactions among them.

Key words: regulator of G-protein signaling 5, ATP1B1, polymorphism, essential hypertension