论文部分内容阅读
目的评价中国汉族人群5,10-亚甲基四氢叶酸还原酶基因(MTHFR)C677T多态性与非综合征性唇腭裂(NSCL/P)易感性的关系。方法计算机检索中国学术期刊全文数据库、中国生物医学文献数据库、万方学术期刊数据库等,选择MTHFR基因C677T多态性与NSCL/P易感性有关的病例对照研究。采用Rev Man 5.1软件进行统计分析。结果共纳入研究5项包括1 598例研究对象。Meta分析结果显示,在中国汉族人群中,除携带突变纯合子(TT)基因的个体罹患NSCL/P的风险高于携带野生纯合子(CC)的个体(OR=1.69,95%CI 1.19~2.41)外,其他基因模型均不具有统计学意义(T vs.C:OR=1.26,95%CI 0.95~1.67;CT vs.CC:OR=1.54,95%CI 0.91~2.61;CT+TT vs.CC:OR=1.56,95%CI 0.92~2.64;TT vs.CC+TT:OR=1.27,95%CI 0.94~1.73)。结论 MTHFR基因C677T多态性是中国汉族人群发生非综合征性唇腭裂的潜在危险因素,仅携带突变纯合子(TT)基因的个体会增加罹患NSCL/P的风险。
Objective To evaluate the relationship between polymorphism of 5,10-methylenetetrahydrofolate reductase gene (MTHFR) C677T and the susceptibility to non-syndromic cleft lip and palate (NSCL / P) in Chinese Han population. Methods A case-control study on the C677T polymorphism of MTHFR gene and the susceptibility to NSCL / P in Chinese Academic Journal Full-text Database, Chinese Biomedical Literature Database and Wanfang Academic Journal Database was searched by computer. RevMan 5.1 software for statistical analysis. Results A total of 5 studies were included, including 1 598 subjects. Meta-analysis showed that in Chinese Han population, individuals with mutations in the TT homozygotes (TT) had a higher risk of developing NSCL / P than those with wild homozygotes (OR = 1.69, 95% CI 1.19-2.41 (T vs. C: OR = 1.26, 95% CI 0.95-1.67; CT vs. CC: OR = 1.54, 95% CI 0.91-2.61; CT + TT vs. CC: OR = 1.56, 95% CI 0.92-2.64; TT vs. CC + TT: OR = 1.27, 95% CI 0.94-1.73). Conclusions The C677T polymorphism of MTHFR gene is a potential risk factor for nonsyndromic cleft lip and palate in Chinese Han population. Only individuals carrying the mutant homozygote (TT) gene may increase the risk of developing NSCL / P.