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目的探讨血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性、血管紧张素Ⅱ1型受体(AT1R)基因A1166C多态性与新疆哈萨克族居民原发性高血压关系。方法采用病例对照研究设计,以220例高血压患者为高血压组,220名血压正常者为对照组。应用聚合酶链反应和限制性酶切的方法检测ACE基因I/D与AT1R基因A1166C多态性。结果高血压组中,ACE I/D DD、ID、II 3种基因型的频率分别为43.64%,34.54%,21.82%,对照组中分别为27.72%,48.64%,23.64%,差异有统计学意义(χ2=19.89,P<0.01);高血压组中D和I 2种等位基因频率分别为60.91%,39.09%;对照组中分别为47.95%,52.05%,差异有统计学意义(χ2=14.89,P<0.01);高血压组中,AT1RA1166C AA和AC2种基因型的频率分别为78.6%,21.4%,对照组中分别为81.4%,18.6%,差异无统计学意义(χ2=0.51,P>0.05);高血压组中A和C2种等位基因频率分别为89.3%,10.7%,对照组中分别为90.7%,9.3%,差异无统计学意义(χ2=0.45,P>0.05)。结论当个体携带ACE基因DD基因型时,增加患高血压的危险性;AT1R基因A1166C多态性与哈萨克族居民高血压发生无关;ACE基因ATR基因之间可能有交互作用。
Objective To investigate the relationship between angiotensin converting enzyme (ACE) gene insertion / deletion (I / D) polymorphism, angiotensin Ⅱ type 1 receptor (AT1R) gene A1166C polymorphism and essential hypertension in Xinjiang Kazak inhabitants. Methods A case-control study was designed. Two hundred and twenty patients with hypertension were selected as hypertension group and 220 as normal control group. The ACE gene I / D and AT1R gene A1166C polymorphism were detected by polymerase chain reaction and restriction enzyme digestion. Results The frequencies of ACE I / D DD, ID, and II genotypes were 43.64%, 34.54% and 21.82% in the hypertensive group and 27.72%, 48.64% and 23.64% in the control group, respectively (Χ2 = 19.89, P <0.01). The allele frequencies of D and I in hypertension group were 60.91% and 39.09%, respectively, and those in control group were 47.95% and 52.05%, respectively, with significant difference (χ2 = = 14.89, P <0.01). The frequencies of AT1RA1166C AA and AC2 genotypes were 78.6% and 21.4% respectively in the hypertension group and 81.4% and 18.6% in the control group respectively, with no significant difference (χ2 = 0.51 , P> 0.05). The allele frequencies of A and C2 alleles were 89.3% and 10.7% in hypertension group and 90.7% and 9.3% in control group respectively, with no significant difference (χ2 = 0.45, P> 0.05 ). Conclusion When carrying DD genotype of ACE gene in individuals, the risk of hypertension is increased. A1166C polymorphism of AT1R gene is not associated with hypertension in Kazakh residents. There may be interaction between ACE gene ATR genes.