Promoter polymorphism T-786C, 894G→T at exon 7 of endothelial nitric oxide synthase gene are associa

• 作 者: Zuchao Gu Yu Zhang Guixing QIu
• 机 构: 成都市第一人民医院 北京协和医院
• 出 处: 中华医学会第十八届骨科学术会议暨第十一届COA国际学术大会
• 发表日期: 2016年6期
• 关键词: T-786C 894G→T endothelial nitric oxide synthase gene polymorphism osteoporosis

　　Objective: To investigate the association between genetic polymorphism of T-786C in promoter region, 894G→T at exon 7 of endothelial nitric oxide synthase (eNOS) gene and osteoporosis (OP) disease. Method: The genotypes of 350 patients with osteoporosis and 350 healthy controls were detected by polymerase chain reation (PCR) and DNA sequencing. The allele ratios and genotype distributions in the patients and controls were assessed using the Pearson X2-test. Odds ratios (OR) with two tailed P-value and 95% confidence intervals (CI) were calculated as a measure of the association of the eNOS genotype with OP. Result: the C allele distribution frequency of T-786C eNOS in OP group (8.5%) was significantly higher than that in control group(3.9%), relative risk (OR) of OP associated with the CC genotype was 2.68 (95% CI, 0.92 to 1.37). The allele frequency of 894G→T at exon 7 of eNOS gene in OP group (11.5%) was significantly than that in control group (5.2%), OR of OP associated with the TT genotype was 2.60 (all p<0.05). Conclusion: The analysis results indicated that both T-786C in promoter region and 894G→T at exon 7 of eNOS gene might be genetic predisposal factors of OP, these polymorphisms maybe independently or synergic with other loci to have an impact on the incidence of OP.