内皮源一氧化氮合酶基因单核苷酸多态性与高血压病相关性研究

目的分析一氧化氮合酶基因NOS3 A-922 G、NOS3 T-786C与NOS3 G894T单核苷酸多态性(SNP)的等位基因频率分布与高血压病的相关性。方法选择无血缘关系的高血压病患者192例(高血压病组)及正常健康人122例(对照组),获取其静脉血白细胞基因组DNA。采用等位基因特异性引物聚合酶链反应技术检测NOS3NOS3 A-922G、NOS3 T-786C与NOS3 G894T 3个位点的基因型。结果高血压病组NOS3 G894T、NOS3A-922G和NOS3 T-786 C各相应的等位基因型分布频率和等位基因单倍型频率与对照组比较无显著性差异(P>0.05)。两组按男女性别分层研究,男女人群亦未发现NOS3 A-922 G、NOS3 T-786C与NOS3 G894T各个位点单核苷酸多态性与高血压病有相关性。结论我们的研究未能发现人群中NOS3A-922 G、NOS3 T-786C与NOS3 G894T SNP与其高血压病有明确的相关性,且无性别差异。

Correlation of single nucleotide polymorphisms of endothelial nitric oxide synthase with hypertension

Objective To study the correlation of genotype distribution and allele haplotype distribution frequency of single nucleotide polymorphisms(SNP) of endothelial nitric oxide synthase(NOS3) NOS3A-922 G?NOS3 T-786C and NOS3 G894T with essential hypertension.Methods Genomic DNAs of leukocytes in venous blood were obtained from 192 essential hypertension patients(hypertension group) and 122 healthy people as control in the Chinese Han nationality population.The three sites of NOS3 A-922 G,NOS3 T-786C and NOS3 G894T were genotyped by allele-specific primer(ASP) PCR technique.Results There were no differences in the corresponding allelic genotype distribution frequencies and the corresponding allelic haplotype frequencies of NOS3 A-922 G,NOS3 T-786C and NOS3 G894T between the essential hypertension group and the healthy people(P>0.05).According to sex classification,no correlation between essential hypertension and the SNPs of NOS3 A-922 G,NOS3 T-786C and NOS3 G894T was found in the male subgroup or the female subgroup.Conclusions This study found that there was no correlation of NOS3 A-922 G,NOS3 T-786C and NOS3 G894T SNP with hypertension in both sexes.