新疆哈萨克、汉族原发性高血压与Cx37基因多态性相关性研究

Relationship between the Cx37 polymorphism of connexin gene and essential hypertension in Kazak and Han population in Xinjiang

目的探讨新疆哈萨克族(哈族)、汉族人群缝隙连接蛋白(Cx)37基因多态性与原发性高血压(EHT)的相关性。方法新疆地区EHT患者(EHT组)500例,哈、汉族各250例;同期健康体检者(NT组)500例,其中哈、汉族各250例。比较2族EHT组与NT组人群年龄、体质量指数(BMI)、收缩压(SBP)及舒张压(DBP)等一般临床特征情况。Cx37基因rs1630310、rs697372、rs705193的单核苷酸多态性(SNP)位点基因多态性,对疾病人群进行Hardy-Weinberg平衡检测,计算各组哈族和汉族各位点基因型频率及基因频率差异。结果哈族、汉族EHT组与NT组BMI、SBP、DBP、载脂蛋白比值及同型半胱氨酸差异均有统计学意义(P<0.05)。EHT组与NT组rs705193位点基因型频率和基因频率差异均无统计学意义(P>0.05)。哈族rs1630310位点基因型频率及基因频率差异均有统计学意义(P<0.01);哈族rs697372位点基因型频率差异无统计学意义(P>0.05),但基因频率差异有统计学意义(P<0.05),汉族2组rs1630310、rs697372位点基因型频率及基因频率差异均无统计学意义。结论 Cx37基因多态性与新疆哈族EHT的发生有关,rs1630310及rs697372位点多态性可能与哈族EHT的发生有关。

Objective To investigate the association of the Cx37 polymorphism of connexin gene with essential hyper- tension （EHT） in Xinjiang Han and Kazak population. Methods In Xinjiang region, 500 EHT patients （EHT group） were in- cluded in this study including Kazak 250 cases and Han 250 cases. Five hundred healthy volunteers （NT） were used as NT group including Kazak 250 cases and Han 250 cases. The values of age, body mass index （BMI）, systolic blood pressure （SBP） and diastolic blood pressure （DBP）, and other general clinical features were compared between two groups. The poly- morphism of Cx37 gene rs1630310, rs697372 and rs705193 SNP were compared between EHT and NT groups in the two eth- nic groups. Hardy-Weinberg equilibrium was used to detect the representation, and differences of genotype frequencies and gene frequency were calculated in two groups of Kazak and Han groups. Results There were significant differences in BMI, SBP, DBP, apolipoprotein ratios and homoeysteine between EHT group and NT group in Kazak and Han groups （P 〈 0.05）. There were no significant differences in genotype frequencies and gene frequencies of rs705193 between EHT and NT groups （P 〉 0.05）. The differences of Kazak rs1630310 genotype and gene frequency were statistically significant （P 〈 0.01）. The frequency of Kazak rs697372 locus genotype was not significantly different （P 〉 0.05）, but the difference of gene frequen- cy was statistically significant （P 〈 0.05）. There were no significant differences in rs1630310 and rs697372 locus genotype and gene frequency in two groups of Han group. Conclusion Cx37 gene polymorphism is associated with the occurrence of EHT in Xinjiang Kazak population, which may be related with the rs 1630310 and rs697372 polymorphism.