上皮细胞钠通道α亚基基因多态性与湘西土家族原发性高血压的相关性

Correlation of the epithelial sodium channel subunit alpha gene polymorphism and essential hypertension of Tujia in Xiangxi area

目的:探讨上皮细胞钠通道α亚基(SCNN1A)基因单核苷酸多态性位点rs2286600与湘西土家族人群原发性高血压(EH)的相关性。方法:用聚合酶链反应-限制性片段长度多态性技术,分析213例土家族EH患者(EH组)与215例土家族健康者(对照组)SCNN1A基因型及等位基因频率的分布状况。结果:土家族存在CC、CT及TT三种基因型;EH组与对照组的CC、CT和TT基因型频率(0.799∶0.674,0.192∶0.270,0.028∶0.056),差异有统计学意义(χ2=6.328,P<0.05);EH组与对照组的C、T等位基因频率(0.876∶0.809,0.124∶0.191),差异有统计学意义(χ2=7.078,P<0.05)。结论:土家族存在SCNN1A基因rs2286600多态性位点,该多态性位点可能与土家族EH存在相关性,CC基因型与C等位基因可能是土家族人群患EH的危险因子。

Objective：To investigate the relationship of the epithelial sodium channel subunit alpha（SCNN1A） gene′s single nucleotide polymorphism rs2286600 and essential hypertension（EH） of Tujia in Xiangxi area.Method：Two hundred and thirteen EH patients（EH group） and 215 normal people（control group） from Tujia people were recruited.The rs2286600 polymorphism of SCNN1A gene was analyzed by PCR-RFLP.Result：There were three genotypes of CC,CT and TT in Tujia.The frequencies of genotypes of CC,CT and TT were 0.799,0.192,0.028 in EH group and 0.674,0.270,0.056 in control group,and significant differences were found in genotypes of SCNN1A gene polymorphism between the two groups（χ2=6.328,P0.05）.The allele frequencies of C and T were 0.876,0.124 in EH group and 0.809,0.191 in control group,and significant difference were found in allele frequencies of SCNN1A gene polymorphism between the two groups（χ2=7.078,P0.05）.Conclusion：The Tujia people have rs2286600 polymorphism of SCNN1A gene.There may be some association between SCNN1A gene rs2286600 polymorphism and EH in Tujia.The CC genotype and C allele may be the risk factors which lead to EH of Tujia.