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目的:探讨内皮型一氧化氮合酶(eNOS)基因标签单核苷酸多态性(tSNP)(rs2070744、rs1800779、rs1799983、rs3918188和rs7830)与新疆汉族原发性高血压(EH)的相关性,阐明连锁不平衡(LD)模式和单体型分布特征。方法:采取整群抽取随机抽样的方法,选取新疆沙湾县汉族346名EH患者(EH组)与385名健康者(NT组)为研究对象,进行流行病学调查和临床检查,并采集血样。运用单碱基延伸分型(SNaPshot)技术检测eNOS基因标签单核苷酸多态性,确定基因型。结果:(1)eNOS基因rs3918188位点等位基因C、A在EH组和对照组中分布频率分别为485(70.1%)、207(29.9%)和497(64.5%)、273(35.5%),EH组C等位基因频率高于对照组(P<0.05),C等位基因患病风险为A等位基因1.287倍(95%CI 1.033-1.603,P<0.05)。rs7830位点基因型CC、AC、AA在EH组及正常对照组中的分布频率分别为126(36.4%)、185(53.5%)、35(10.1%)和145(37.7%)、173(44.9%)、67(17.4%),EH组和正常对照组基因型频率分布有显著差异(2=9.721,P<0.01)。其它tSNP位点基因型及等位基因频率分布在EH组和对照组间无显著差异(P>0.05)。(2)除rs1800779和rs2070744位点间存在强连锁不平衡外;其它位点间不存在强连锁不平衡;单体型TAGAC在EH组和对照组中分布频率分别为183(26.45%)和248(32.21%),EH组低于对照组(P<0.05);单体型TAGCC在EH组和对照组中分布频率分别为179(25.87%)和141(18.31%),EH组高于对照组(P<0.01)。结论:eNOSrs3918188C等位基因可能是新疆汉族EH的易感因素,rs7830位点多态性可能与新疆汉族EH相关,其它tSNP可能与该民族EH不相关;除rs1800779和rs2070744位点间存在强连锁不平衡外,其它tSNP位点间不存在强连锁不平衡;tSNP构成的单体型可能与新疆汉族EH相关。
Objective: To investigate the association between eNOS gene polymorphism (tSNP) (rs2070744, rs1800779, rs1799983, rs3918188 and rs7830) and essential hypertension (EH) in Han nationality in Xinjiang Uygur Autonomous Region , To elucidate the linkage disequilibrium (LD) patterns and haplotype distribution characteristics. Methods: A total of 346 EH patients (EH group) and 385 healthy subjects (NT group) from Han nationality in Shawan County of Xinjiang were selected as the study subjects by random sampling. The epidemiological investigation and clinical examination were performed. Blood samples . Single nucleotide polymorphism (SNaPshot) technique was used to detect eNOS gene single nucleotide polymorphisms and genotypes were determined. Results: (1) The frequencies of allele C and A of rs3918188 in eNOS gene were 485 (70.1%), 207 (29.9%) and 497 (64.5%) and 273 (35.5%) in EH group and control group respectively . The frequency of C allele in EH group was higher than that in control group (P <0.05). The risk of C allele was 1.287 times (95% CI 1.033-1.603, P <0.05). The frequencies of genotypes CC, AC and AA in rs7830 locus were 126 (36.4%), 185 (53.5%), 35 (10.1%) and 145 (37.7%) in the EH group and normal control group respectively %), 67 (17.4%). There was significant difference in genotype distribution between EH group and normal control group (2 = 9.721, P <0.01). There was no significant difference in genotype and allele frequencies of other tSNP loci between EH group and control group (P> 0.05). (2) Strong linkage disequilibrium was not found except rs1800779 and rs2070744; there was no strong linkage disequilibrium among other sites; the frequency of haplotype TAGAC was 183 (26.45%) in EH group and 248 (32.21%) in EH group and lower in EH group (P <0.05). The frequency of haplotype TAGCC in EH group and control group were 179 (25.87%) and 141 (18.31%) respectively, (P <0.01). Conclusion: The eNOS rs3918188C allele may be a predisposing factor for Han Chinese EH. The rs7830 polymorphism may be related to the Han Chinese EH and other tSNP may not be related to the national EH. In addition to strong linkage between rs1800779 and rs2070744 Balance, there is no strong linkage disequilibrium between other tSNP sites; haplotypes of tSNP may be related to EH in Xinjiang Han.