醛固酮合酶和Y染色体基因多态性与原发性高血压的相关性

目的探讨醛固酮合酶基因CYP11B2-344C／T、Y染色体Hind Ⅲ酶切位点多态性与原发性高血压的关系。方法对原发性高血压患者654例，正常人386名提取白细胞DNA，聚合酶链反应结合限制性内切酶（Hae Ⅲ、HindⅢ）方法检测醛因酮合酶和Y染色体基因多态性。结果 Hind Ⅲ多态性各基因型差异有统计学意义（P=0．03），Hind Ⅲ（＋）基因型收缩压、舒张压均明显降低（P=0．01，P=0．03）。CYP11B2 CC、CT基因型与Hind Ⅲ（-）基因型组合时，发生高血压的危险增加1．998倍（P=0．01）。结论Y染色体Hind Ⅲ酶切位点多态性与原发性高血压相关，CYP11B2-344C／T多态性与Y染色体胁Hind Ⅲ酶切位点多态性可能具有联合作用。

Correlativity between the polymorphisms of aldosterone synthase gene, Hind Ⅲ restriction site on Y chromosome and essential hypertension

OBJECTIVE: To investigate the relationship of associating the polymorphisms of CYP11B2 -344C/T and Hind III restriction site on Y chromosome with essential hypertension. METHODS: This study enrolled 654 patients with essential hypertension and 386 healthy subjects as control group. The genomic DNA was extracted from blood leukocytes. The DNA segments of CYP11B2 and Y chromosome were amplified from genomic DNA by polymerase chain reaction (PCR). The PCR products were digested with Hae III or Hind III at 37 degrees centigrade respectively. The digested products were subjected to agarose gel electrophoresis and stain with ethidium bromide. RESULTS: (1)The Hind III (-) genotype was found at 42.0% for patients with essential hypertension and 32.9% for control. The Hind III (-) genotype frequency of hypertension patient was significantly higher than that of the control (P was 0.03). The Hind III (+) genotype had a lower SBP and DBP than the Hind III (-) genotype (P was 0.01, P was 0.03). (2)With combining CC or CT genotype with Hind III (-) genotype, the relative risk suffering from hypertension was 1.998 fold high (P was 0.01). CONCLUSION: The polymorphism of Hind III restriction site on Y chromosome is associated with essential hypertension, and when combined with polymorphism of CYP11B2 -344C/T, may have a united role to increase the risk of suffering from hypertension disease.