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原发性高血压与eNOS基因多态性相关性分析

Association of eNOS gene 27 bp VNTR polymorphism with essential hypertension

  • 摘要: 目的 探讨新疆哈萨克族和汉族原发性高血压(EH)与内皮型一氧化氮合酶(eNOS)基因27bpVNTR多态性相关性。方法选取新疆塔城地区哈萨克族高血压患者363例和健康对照370人,选取汉族高血压患者346例,健康对照385人,运用多重单碱基延伸分型技术(multiplex snapshot)技术进行eNOS基因27bpVNTR多态性分析,比较基因型、等位基因分布频率;采用双抗体夹心法(ELISA试剂盒)测定血浆eNOS含量,分析血浆eNOS水平与原发性高血压的相关性。结果 2个民族中,原发性高血压组的收缩压、舒张压、平均动脉压、脉压、体质指数、腰臀比、胆固醇、低密度脂蛋白、肌酐、尿酸、载脂蛋白A1/B平均水平均高于对照组,差异均有统计学意义(P<0.05);哈萨克族EH组及对照组eNOS基因27 bp VNTR的4种基因型(bba、a、ab、bc)的分布频率差异无统计学意义(P>0.05);汉族EH组未检测到bc基因型,EH组及对照组的基因型和等位基因分布频率差异无统计学意义(P>0.05);汉族居民EH组携带bba、a、ab基因型的血浆eNOS平均值分别为(12.31±15.63)(13.25±13.55)、(14.27±18.94)ng/mL;对照组分别为(13.84±15.19)、(17.97±13.33)、(13.55±13.73)ng/mL,均高于哈萨克族居民。结论 新疆哈萨克族和汉族居民eNOS基因27 bp VNTR多态性与原发性高血压无关;汉族居民携带bba、a、ab基因型的血浆eNOS平均值高于哈萨克族人。

     

    Abstract: Objective To investigate the association of 27 bp variable number of tandem repeat(VNTR)polymorphism of the endothelial nitric oxide synthase(eNOS)gene with essential hypertension(EH)in the Kazakh and Han population in Xinjiang. Methods A total of 363 Kazakh patients(case group)with EH,370 healthy Kazakh people(NT group)and 346 Han EH patients,385 healthy people in Han Chinese population were selected from Tacheng area in the Xijiang.27 bp VNTR polymorphism of eNOS gene was detected with multiplex snapshot system.Genotypic and allele frequency were calculated and compared.Blood samples were collected and the blood level of eNOS was quantified using sandwich enzymelinked immunosorbent assay. Results For the two different ethinc EH groups,the average levels of systolic blood pressure, diastolic blood pressure,average arterial pressure,body mass index,waist/hip ratio,cholesterol,low density lipoprotein,creatinine,uric acid,and apolipoprotein A1/B were all higher than those of the NT group(P<0.05 for all).The frequencies of genotype of 27 bpVNTR polymorphism of eNOS gene(bb,aa,ab,bc)had no difference between EH and NT groups in the Kazakhs(P>0.05).The frequencies of genotypes and alleles of eNOS gene had no difference between EH and NT groups in Han population(P>0.05),and the bc genotype was not detected in Han EH group.The average plasma eNOS levels were 12.31±15.63,13.25±13.55,and 14.27±18.94 ng/ml for Han EH patients with bb,aa,and ab genotype and those were 13.84±15.19,17.97±13.33,and 13.55±13.73 ng/ml for Han controls with bb,aa,and ab,respectively,and the levels of Han populations of different groups were all higher than those of Kazakh populations. Conclusion The polymorphism of 27 bpVNTR eNOS gene was not associated with essential hypertension in Kazakh and Han population of Xinjiang. The Han populations with bb,aa,and ab genotype have a higher average eNOS level than Kazakhs.

     

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