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目的探讨转化生长因子β1(TGFβ1)T869C、醛固酮合成酶(CYP11B2)-344T/C和α内收蛋白Gly460Trp3个单核苷酸多态性(SNPs)与原发性高血压(EH)的关系。方法采用限制性片段长度多态性和突变基因分离PCR法,在396例EH患者和214例正常人中分析T869C、-344T/C和Gly460Trp多态性的基因型分布。结果在单基因研究中,女性EH患者与对照组比较,TGFβ1T869C基因型和等位基因频率差异有统计学意义(P值分别=0.017,0.014);与T等位基因携带者相比,CC纯合子EH患病率差异有统计学意义(OR=2.97,95%CI1.38～6.32,P=0.004);而男性则两组间T869C基因型分布和等位基因频率差异无统计学意义(P>0.05)。采用多基因联合分析,TGFβ1CC纯合子中,CYP11B2TT纯合子EH患病率高于C等位基因携带者(OR=1.99,95%CI1.01～3.74,P=0.03)。结论TGFβ1T869C多态性可能与中国汉族女性EH相关;在EH人群中,TGFβ1T869C和CYP11B2-344T/C多态性可能有协同作用。
Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of transforming growth factor β1 (TGFβ1) T869C, aldosterone synthase (CYP11B2) -344T / C and α adducin Gly460Trp and essential hypertension (EH) Methods The genotypes of T869C, -344T / C and Gly460Trp polymorphisms were analyzed in 396 EH patients and 214 normal controls by restriction fragment length polymorphism and mutation PCR. Results In the single-gene study, the frequencies of TGFβ1T869C genotypes and alleles were significantly different between women with EH and controls (P = 0.017, 0.014, respectively). Compared with those with T alleles, CC There was a significant difference in the prevalence of zoster EH (OR = 2.97, 95% CI 1.38 ~ 6.32, P = 0.004). However, there was no significant difference in the distribution of genotypes and alleles of T869C > 0.05). The prevalence of homozygous EH of CYP11B2TT homozygous for TGFβ1CC homozygote was higher than that of C allele (OR = 1.99, 95% CI1.01 ~ 3.74, P = 0.03) by using polygenes analysis. Conclusion TGFβ1T869C polymorphism may be related to EH in Chinese Han women. In EH population, TGFβ1T869C and CYP11B2-344T / C polymorphisms may have synergistic effects.