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目的探讨Y染色体非重组区HindⅢ酶切位点多态性与中国汉族人群原发性高血压的关系。方法入选男性研究对象857例,其中原发性高血压患者402例、正常对照人群455名。所有研究对象用常规方法提取白细胞DNA,采用多聚酶链反应结合限制性内切酶(HindⅢ)方法检测Y染色体非重组区HindⅢ酶切位点多态性。结果对照组和原发性高血压组Y染色体HindⅢ酶切位点多态性比较各基因型差异有统计学意义(P=0·02),高血压患者HindⅢ(+)者基因型为58·5%(235/402),正常人群为66·4%(302/455);高血压患者HindⅢ(+)者基因型少于正常人群,HindⅢ(-)者基因型增多。HindⅢ(+)者基因型收缩压(133·8mm Hg±25·2mm Hg),舒张压(83·5mmHg±13·3mm Hg)和平均动脉压(100·2mm Hg±16·5mm Hg)均明显低于HindⅢ(-)者基因型(分别为138·0mm Hg±27·0mm Hg、85·9mm Hg±14·4mm Hg、103·3mm Hg±17·6mm Hg,均P<0·05)。结论Y染色体HindⅢ酶切位点多态性与原发性高血压有关,可能是中国汉族人群原发性高血压的一个遗传标志。
Objective To investigate the relationship between Hind Ⅲ restriction site polymorphism of Y chromosome non-recombination region and essential hypertension in Chinese Han population. Methods A total of 857 male subjects were enrolled in the study, including 402 patients with essential hypertension and 455 normal controls. All subjects used routine methods to extract leucocyte DNA, and polymerase chain reaction combined with restriction endonuclease (Hind Ⅲ) method was used to detect Hind Ⅲ restriction site polymorphism of Y chromosome non-recombination region. Results There were significant differences in the genotypes of Y chromosome Hind Ⅲ restriction sites between control group and primary hypertension group (P = 0.02), Hind Ⅲ (+) genotype was 58 · 5% (235/402) in normal population and 66.4% (302/455) in normal population. The genotype of HindⅢ (+) in hypertensive patients was less than that in normal people, and the genotype of HindⅢ (-) was increased. The systolic blood pressure (133.8 mm Hg ± 25.2 mm Hg), diastolic blood pressure (83.5 mm Hg ± 13.3 mm Hg) and mean arterial pressure (100.2 mm Hg ± 16.5 mm Hg) were significantly higher in HindⅢ (+ HindⅢ (-) genotype (138.0mm Hg ± 27.0mm Hg, 85.9mm Hg ± 14.4mm Hg, 103.3mm Hg ± 17.6mm Hg respectively, all P <0.05). Conclusion The Hind Ⅲ polymorphism of Y chromosome is associated with essential hypertension and may be a genetic marker of essential hypertension in Chinese Han population.