新疆维吾尔族原发性高血压与ACE基因I/D多态性的相关性研究

目的探讨血管紧张素转换酶基因(ACE)基因插入/缺失(I/D)多态性与新疆维吾尔族人群原发性高血压发生的关系。方法选取新疆维吾尔族原发性高血压者(EH组)244例以及正常血压者(NT组)410例,应用PCR技术检测EH组和NT组的ACE基因16内含子I/D多态性。结果在新疆维吾尔族群体中ACE基因I/D多态频率分布符合Hardy-Weinberg平衡;维吾尔族EH组和NT组基因型频率分布差异无统计学意义(P=0.220),EH组D等位基因临界高于NT组(P=0.085),对性别分层分析后发现维吾尔族女性EH组ID及DD基因型分布均高于NT组,但差异无统计学意义(P=0.089),在维吾尔族女性中EH组ACE基因的D等位基因频率高于NT组,差异具有统计学意义(P=0.024)。结论 ACE基因I/D多态性同维吾尔族女性高血压病发病相关,D等位基因可能是维族女性高血压病发病的风险因子。

The association between angiotensin I-converting enzyme(ACE) gene polymorphism and essential hypertension in Xinjiang Uygurs

Objective To investigate the association between angiotensin Ⅰ-converting enzyme(ACE) gene polymorphism and essential hypertension(EH) in Xinjiang Uygurs.Methods A total of 244 EH patients and 410 normotensives(NTs) in Xinjiang Uygurs were enrolled and polymerase chain reaction(PCR) assay was used to analyze the polymorphism of insertion/deletion(I/D) in the 16th intron of ACE gene.Results The polymorphisms of I/D in ACE gene were in Hardy-Weinberg equilibrium in Uygurs.There were no statistical differences of the genotype distributions of I/D in ACE gene between ET and NTs in Uygurs.The threshold limit value(TLV) of D allele frequency in ACE gene in EH patients was higher than that in NTs.The gender stratification analysis revealed that there was a tendency of higher genotype distributions of ID and DD in ACE gene in female EH patients relative to NTs,with no statistical difference.The D allele frequency in ACE gene in female EH patients was higher that that in NTs.Conclusion The polymorphisms of I/D in ACE gene may contribute to the pathogenesis of EH in Xinjiang Uygurs,and D allele of I/D in ACE gene may be a genetic risk factor for female EH patients in Uygurs.