河南汉族人群eNOS基因27bp VNTR,G894T多态性与深静脉血栓形成的相关性分析

Correlation of 27 bp VNTR and G894T polymorphisms of endothelial nitric oxide synthase gene with deep venous thrombosis in Han population of Henan province

目的:探讨内皮细胞型一氧化氮合酶(eNOS)基因27bp VNTR,G894T基因多态性与深静脉血栓形成(DVT)的相关关系.方法:运用PCR-RFLP方法对103例DVT患者和250例健康对照进行eNOS基因27bp VNTR,G894T多态性的检测分析,并进行基因型频率及等位基因频率的比较以及单倍型分析.结果:4a/4a基因型频率的分布以及4a等位基因频率的分布在DVT组与对照组差异有统计学意义(P<0.05);相对风险分析发现,携带4a等位基因的个体发生DVT的危险性增加;OR=1.950,95%CI为1.128～3.371.4a-G,4b-G两种单倍型组合在DVT组与对照组比较,差异具有统计学意义(P<0.05).对eNOS基因4a/b和G894T做配对连锁不平衡检验,D′=0.681,r2=0.003.结论:提示27bp VNTR多态性与深静脉血栓形成相关,携带4a等位基因者可能具有易患静脉血栓的危险性;4a-G可能是河南汉族人DVT发生的风险单倍型,而4b-G可能对河南汉族人群DVT的发生具有某种保护作用.4a/b和G894T之间不具有连锁不平衡.

AIM： To assess whether the variable number of tandem repeats （VNTR） and G894T polymorphisms of the endothehal nitric oxide synthase （eNOS） gene are associated with deep venous thrombosis （ DVT ） in Henan Han population. METHODS： A total of 103 patients with DVT and 250 healthy subjects were recruited in this case-control study. The 27 bp VNTR and G894T polymorphisms of the eNOS gene were detected by PCR-RFLP. We compared genotype frequencies and allele gene frequencies between DVT group and control group. We also analysed haplotype. RESULTS： There were significant differences in the genotype frequencies of 4a/4a and allele gene frequencies of 4a between DVT group and control group. The persons with 4a allele gene had higher risk of DVT by relative risk analysis, OR = 1. 950, 95% CI （ 1. 128 - 3. 371 ）. Haplotype analysis revealed that 4a-G, 4b-G had significant differences between DVT group and control group （ P 〈 0.05 ）. Linkage disequilibrium test between 27 bp VNTR and G894T was adopted, D＇ =0.681, r2 =0.003. CONCLUSION： The 4a allele gene of eNOS is associated with DVT and might be a risk factor of DVT for the persons carrying it in Henan Han population. Maybe the haplotype of 4a-G increase the risk of DVT and the haplotype of 4b-G has a protective effect against DVT in Henan Han Population. The 4a/b and G894T exhibit no significant linkage disequilibrium.