目的:探讨在宁夏地区汉族人群中eNOS基因3个SNP位点与原发性高血压(EH)的相关性.方法:采用PCR-RFLP方法对204例EH患者及219例健康个体eNOS基因rs2070744(T＞ C)、rs1800780(A＞G)和rs3918181 (A＞ G)共3个SNP位点检测.用x2检验比较病例组-对照组间基因型频率、等位基因频率的差异,用SHEsis在线分析软件分析单倍型 结果:EH组和对照组间,rs1800780位点基因型频率的分布存在显著性差异(P＜ 0.05).rs2070744位点及rs3918181位点基因型频率及等位基因频率的分布均无显著性差异(P＞ 0.05).3个SNP位点共检出8种单倍型,其中单倍型TGA在对照组及EH患者中有统计学差异(P＜0.05),且OR (95％ CI)为1.549 (1.116 ～ 2.150).结论:单倍型TGA的出现可能会增加汉族EH的患病风险.%Objective To investigate the association between 3 SNPs of eNOS gene and essential hypertension (EH) in Ningxia Han population. Methods Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) genotyping method were carried out to examine SNPs at rs2070744(T > C) 、rsl800780 (A > G) and rs3918181 (A > G) sites of eNOS gene, including 204 EH patients (EH group) and 219 healthy individuals(normal group). Differences of genotype and allele frequency were compared by x2 test. Haplotype were analyzed by SHEsis Online analysis software. Results The genotype frequencies rsl800780 was significantly different Between EH group and normal group (P < 0.05). Genotype frequency and allelic frequency of rs2070744 and rs3918181 were not significant different between EH group and normal group (P > 0.05); Eight kinds of haplotype were detected in three SNP sites, the frequency of haplotype TGA was statistically different between the two groups (P< 0.05), and OR (95% CI) was 1.549 (1.116 ~ 2.150). Conclusion Haplotype with TGA may increase the risk of EH Han nationality.
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