新疆哈萨克族prostasin基因变异与原发性高血压的关联性

目的 探讨新疆哈萨克族prostasin基因变异与原发性高血压的关系.方法 采用整群随机抽样方式,以生活在新疆阜康市30岁以上的哈萨克族牧民938名为研究对象,进行标准化问卷调查、体格检查.根据2005年中国高血压防治指南选取研究对象:原发性高血压组451例,正常血压组487例.采用测序方法对prostasin基因所有外显子及启动子区测序;应用TaqMan PCR方法对代表性的变异(297A>C、2827C>T、E342K)进行基因分型,计算各基因型在两组中的分布频率.结果 发现10个变异位点:-36G>C,-27C>T,78G>A,81G>C(rs8049043),297A>C,350C>T,351A>C,2827C>T,3482G>A(E342K),3783A>G.对E342K和2827C>T成功分型,E342K突变仅有1例,且为原发性高血压患者.2827C>T多态性存在CC、CT、TT 3种基因型和C、T两种等位基因.3种基因型在原发性高血压病组和正常血压组中的频率分别为81.0%、17.3%、1.7%和80.3%、18.9%、0.8%,C、T等位基因频率分别为89.6%、10.4%和89.8%、10.2%,基因型和等位基因频率在两组间的差异均无显著性(χ~2=2.084,P=0.353和χ~2=0.001,P=0.973).各基因型之间血压水平的差异均无显著性(P>0.05).结论 Prostasin基因2827C>T多态性可能与原发性高血压发生无关;E342K突变可能部分参与新疆哈萨克族原发性高血压的形成.

Association of Genetic Variations of Prostasin Gene with the Essential Hypertension in Xinjiang Kazakhs

Objective To 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 (χ~2=2.048, P=0.353 and χ~2=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.