非综合征型唇腭裂与MTHFR基因多态性的相关性研究  

Different roles of MTHFR C677T and A1298C polymorphisms in nonsyndromic cleft lip with or without cleft palate

作　　者：韩越[1] 潘永初[1] 杜一飞[1] 万林忠[1] 王林[1] 

机构地区：[1]南京医科大学口腔医学研究所,江苏南京210029

出　　处：《口腔生物医学》2011年第1期8-12,共5页Oral Biomedicine

基　　金：国家自然科学基金(30973361;81000457);口腔疾病研究国家重点实验室开放课题(SKLODSCU2009KF05);江苏省自然科学基金(BK2010529);江苏省高校自然科学研究项目(10kJB320004)

摘　　要：目的:研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因位点C677T和A1298C与中国江苏地区汉族人群非综合征型唇腭裂((nonsyndromic cleft lip with or without cleft palate,NSCL/P)发生的相关性。方法:采用聚合酶链反应-限制性片段长度多态性检测法对200例NSCL/P患者和213例健康人进行基因型检测。结果:MTHFR C677T对照组与病例组在基因型分布无统计学差异(P>0.05),TT基因型和携带T等位基因儿童罹患NSCL/P的风险分别是CC基因型儿童的1.84倍及1.57倍。进一步分层分析发现TT基因型和CT基因型能分别显著增加儿童唇裂伴或不伴腭裂和单纯性唇裂的发病风险。MTHFR A1298C病例组和对照组在基因型频率和等位基因频率有统计学差异(P<0.05),AC基因型和携带C等位基因的儿童罹患NSCL/P的风险分别比AA基因型儿童降低49%及43%。分层分析中,AC基因型和携带C等位基因可降低罹患唇裂伴腭裂及唇裂伴或不伴腭裂的风险。结论:MTHFR C677T可能为中国江苏地区汉族儿童NSCL/P的危险因素,而MTHFR A1298C有可能是NSCL/P发生的保护因素。Objective：To investigate the associations of MTHFR C677T and A1298C with risks of nonsyndromic cleft lip with or without cleft palate（NSCL/P） in Chinese Han population of Jiangsu region.Methods： DNA was extracted from 200 NSCL/P cases and 213 control subjects.Two MTHFR gene polymorphisms were applied by using the polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）.Differences in the distributions of demographic characteristics and frequencies of genotypes and alleles of these two polymorphisms between the cases and controls were evaluated by Student′s t-test（for continuous variables） or the χ2-test（for categorical variables）.The odds ratios（OR） and 95% confidence internals（CI） were calculated by logistic regression analysis.Results： For MTHFR C677T,there was no statistical difference between NSCL/P case group and control group（P0.05）.Children carrying TT and CT/TT genotype had an increased risk of NSCL/P（odds radio（OR）=1.84,95%CI： 1.00,3.37,OR=1.57,95%CI： 1.02,2.40 respectively）.In the further stratified analysis by clefts subgroups,we found that MTHFR 677CT and 677TT contributed to elevated risk of cleft lip only（CLO） and cleft lip with or without cleft palate（CL/P）,respectively.For MTHFR A1298C,there was statistical difference between NSCL/P case group and control group（P0.05）.MTHFR 1298 AC and AC/CC genotype might contribute to a lower risk of NSCL/P（OR=0.51,95%CI： 0.32,0.82,OR=0.57,95%CI： 0.36,0.89,respectively）.MTHFR 1298AC and 1298AC/CC appeared to be protective factors of CL/P and cleft lip with cleft palate（CLP）. Conclusions： MTHFR C677T might be a risk factor of NSCL/P,while MTHFR A1298C might be a protective facto in Chinese Han population of Jiangsu region.

关 键 词：病例对照研究 亚甲基四氢叶酸还原酶 非综合征唇腭裂 基因多态性 

分 类 号：R782.21[医药卫生—口腔医学]