SH2B3基因标签单核苷酸多态性与汉族原发性高血压的关系

目的探讨SH2B衔接蛋白3(SH2B3)基因标签单核苷酸多态(SNPs)与汉族原发性高血压(EH)的关系。方法用聚合酶链式反应-限制性片段长度多态性方法(PCR-RFLP),对1 020例汉族人(EH患者和对照者各510例)SH2B3基因6个标签SNPs(rs7309325、rs11065898、rs10849947、rs2239196、rs2238154和rs739496)的多态性进行检测,运用遗传模型分析该基因与汉族EH的相关性。结果 rs2239196位点基因型和等位基因在EH组和对照组间的频率分布均具有显著性差异(Bonfferoni校正P0.05),Logistic回归分析结果显示T等位基因携带者的患病风险显著升高(OR=2.59,95%CI 1.36~4.96,Bonfferoni校正P0.05)。结论 SH2B3基因rs2239196位点T等位基因可能是汉族EH发生的危险因子。

Association of SH2 B3 gene tag single nucleotide polymorphisms with essential hypertension in Han population

Objective To assess the association of tag single nucleotide polymorphisms ( tag SNPs) of SH2B adap-tor protein 3 ( SH2 B3 ) gene with essential hypertension ( EH ) in Han population .Methods Six tag SNPs ( rs7309325 , rs11065898 , rs10849947 , rs2239196 , rs2238154 and rs739496 ) were genotyped in 510 patients with EH and 510 healthy controls using polymerase chain reaction-restriction fragment length polymorphism method ( PCR-RFLP) .Results Compared to CC genotype , the T allele carriers of rs2239196 were more likely to be hy-pertensive ( OR=2.59 ,95%CI 1.36-4.96 ,Bonferroni correction P<0.05 ) .Conclusions The rs2239196 T al-lele is potential a risk factor of EH in Han population .