OBJECTIVETo explore the relationship between genetic variations of prostasin gene and essential hypertension (EH) in Xinjiang Kazakhs.

METHODSTotally 938 Fukang City residents who were older than 30 years were enrolled in this study using cluster random sampling method. Standardized questionnaire and physical examination were performed. Among them there 451 EH patients (EH group) and 478 normotensive (NT) subjects (NT group) according to Guidelines of Prevention and Control for Hypertension in 2005. All the exons and promoter regions of prostasin gene were sequenced in 94 EH patients. Representative variations (297A>C, 2827C>T, and E342K) were genotyped using TaqMan polymerase chain reaction method in all 938 subjects. The frequencies of genotypes were compared between the EH and NT groups.

RESULTSTen variations were found as follows: -36G>C, -27C>T, 78G>A, 81G>C (rs8049043), 297A>C, 350C>T, 351A>C, 2827C>T, 3482G>A (E342K), and 3783A>G. E342K and 2827C>T were successfully genotyped. E342K mutation was identified in only one hypertensive patient. CC, CT, and TT genotypes existed in 2827C>T polymorphism. The frequencies of CC, CT, and TT were 81.0%, 17.3, and 1.7% in EH group and 80.3%, 18.9%, and 0.8% in NT group, respectively. The frequencies of C and T alleles were 89.6% and 10.4% in EH group and 89.8% and 10.2% in NT group, respectively. The distribution of genotypes and allele frequencies were not significantly different between these two groups (chi2=2.048, P=0.353 and chi2=0.001, P=0.973). Blood pressure was not significantly among subjects with these three genotypes (P>0.05).

CONCLUSIONSThe EH of Xinjiang Kazakhs is not associated with 2827C>T polymorphism in the prostasin gene. E342K mutation in the prostasin gene may contribute partly to the hypertensive phenotype in this population.