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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、TT3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(χ2=2.084,P=0.353和χ2=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。
Objective To investigate the relationship between the mutation of prostasin gene and essential hypertension in Xinjiang Kazak. Methods A total of 938 Kazakh herders living in over 30 years old in Fukang City of Xinjiang were enrolled in the study. Standardized questionnaires and physical examinations were conducted. According to the guideline of prevention and treatment of hypertension in China in 2005, 451 cases of essential hypertension and 487 cases of normal blood pressure were selected. Sequencing was performed on all exons and promoter regions of prostasin gene. Genotyping of the representative variants (297A> C, 2827C> T, E342K) was performed by TaqMan PCR. The genotypes of the two genotypes were calculated Distribution frequency. The results showed that there were 10 variation sites: -36G> C, -27C> T, 78G> A, 81G> C (rs8049043), 297A> C, 350C> T, 351A> C, 2827C> T, 3482G> ), 3783A> G. Successful classification of E342K and 2827C> T, E342K mutation in only 1 case, and for patients with essential hypertension. 2827C> T polymorphisms exist CC, CT, TT genotypes and C, T two alleles. The frequencies of the three genotypes in primary hypertension group and normal blood pressure group were 81.0%, 17.3%, 1.7% and 80.3%, 18.9% and 0.8%, respectively. The frequencies of C and T alleles were 89.6% , 10.4% and 89.8%, 10.2% respectively. There was no significant difference in genotype and allele frequencies between the two groups (χ2 = 2.084, P = 0.353 and χ2 = 0.001, P = 0.973). There was no significant difference in blood pressure level among different genotypes (P> 0.05). Conclusions Prostasin gene 2827C> T polymorphism may not be related to the occurrence of essential hypertension. E342K mutation may be involved in the formation of essential hypertension in Xinjiang Kazak.