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目的探讨eNOS、ET-2基因多态性与高血压的相关性。方法采用病例-对照相关性研究策略,选择三代居住在云南的汉族作为研究对象,用基因芯片检测技术,对100例高血压患者及97例健康对照者进行eNOS Glu298Asp(EE、ED、DD)、ET-2A985G(AA、AG、GG)位点基因多态性检测。用OddRatio估计相对危险度。结果云南汉族97例健康人群中:(1)eNOS Glu298Asp位点的EE、ED、DD基因型频率分别是0.845、0.144、0.011;E和D等位基因频率分别是0.918、0.082。(2)ET-2A985G位点的AA、AG、GG基因型频率分别是0.020、0.258、0.722;A和G等位基因频率分别是0.149、0.851。(3)云南汉族100例高血压患者中,ET-2A985G(AA、AG、GG)位点基因型多态性频率与对照组比较,差异无统计学意义。但ET-2A985G位点G等位基因频率(0.925)与对照组(0.851)比较,差异有统计学意义(χ2=5.507、P=0.019),Odd Ratio=2.168(95%CI:1.123～4.184)。(4)eNOS Glu298Asp位点的DD基因型频率(0.01)与对照组(0.01)比较,差异无统计学意义。结论云南汉族中eNOS Glu298Asp突变对高血压的发生意义不大。ET-2A985G等位基因可能与高血压的易感性相关。
Objective To investigate the relationship between eNOS and ET-2 gene polymorphism and hypertension. Methods A case-control study was conducted in this study. Three generations of Han nationality living in Yunnan were selected as research objects. 100 cases of hypertensive patients and 97 healthy controls were enrolled in this study. The eNOS Glu298Asp (EE, ED, DD) ET-2A985G (AA, AG, GG) locus gene polymorphism. Use OddRatio to estimate the relative risk. Results Among 97 Han healthy population of Yunnan, (1) The frequency of EE, ED and DD genotypes of eNOS Glu298Asp loci were 0.845, 0.144 and 0.011, respectively; the frequencies of E and D alleles were 0.918 and 0.082, respectively. (2) The frequencies of AA, AG and GG genotypes in ET-2A985G loci were 0.020, 0.258 and 0.722, respectively; the frequencies of A and G alleles were 0.149 and 0.851, respectively. (3) There was no significant difference in genotype frequencies of ET-2A985G (AA, AG, GG) loci among 100 hypertensive patients in Yunnan Han ethnic group compared with the control group. However, the allele frequency of G allele at ET-2A985G locus (0.925) was significantly lower than that of control (0.851) (odds ratio = 2.168, 95% CI: 1.123-4.18) . (4) The frequency of DD genotype in eNOS Glu298Asp site (0.01) was not significantly different from that in control group (0.01). Conclusion The mutation of eNOS Glu298Asp in Han nationality in Yunnan is of little significance for the occurrence of hypertension. ET-2A985G allele may be associated with hypertension susceptibility.