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首页> 外文期刊>Genetic testing and molecular biomarkers >MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate
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MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate

机译：地铁、MTRR和MTHFR基因多态性易感性Nonsyndromic或唇裂唇腭裂

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Objective: To examine the associations of methionine synthase (MTR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with the susceptibility to nonsyndromic cleft lip with or without cleft palate (NSCL/P). Methods: Between May 2012 and August 2014, 147 NSCL/P patients (case group) and 129 healthy volunteers (control group) were recruited for the study. The MTR A2756G, MTRR A66G, MTHFR C677T and MTHFR A1298C polymorphisms were assessed by polymerase chain reaction-restriction fragment length polymorphism. Haplotype analyses were performed with SHEsis software. Logistic regression analysis was used to evaluate the possible risk factors for NSCL/P. Generalized multifactor dimensionality reduction (GMDR) was applied to detect gene-gene interactions. Results: MTR A2756G, MTRR A66G, and MTHFR C677T gene polymorphisms were associated with the risk of NSCL/P (all p < 0.05). Logistic regression analysis revealed that MTR A2756G, MTR RA66G, and MTHFR C667T might increase the risk of NSCL/P (odds ratio [OR] = 0.270, 95% confidence interval [95% CI] = 0.106-0.689; OR = 0.159, 95% CI = 0.069-0.368; OR = 0.343, 95% CI = 0.139-0.844). The CA haplotype in the MTHFR gene may serve as a protective factor for NSCL/P (OR = 0.658, 95% CI = 0.470-0.923), and the TA haplotype might be a risk factor (OR = 2.001, 95% CI = 1.301-3.077). GMDR revealed that the optimal models were two-and four-dimensional models with prediction accuracies of 75.73% (p = 0.001) and 77.21% (p = 0.001) and the best cross-validation consistencies of 10/10 and 10/10, respectively. Conclusion: MTR A2756G, MTRR A66G, and MTHFR C677T polymorphisms may be related to NSCL/P, and interactions were detected between the MTR A2756G, MTRR A66G, and MTHFR C677T and A1298C polymorphisms.
机译：目的:检查协会蛋氨酸合成酶(地铁),蛋氨酸合成酶还原酶(MTRR), methylenetetrahydrofolate还原酶(MTHFR)基因的多态性易感性nonsyndromic或唇裂唇腭裂(NSCL / P)。2012年5月和2014年8月,147 NSCL / P病人(病例组)和129名健康志愿者(控制集团)参与了这一研究。A2756G, MTRR A66G, MTHFR C677T, and MTHFR A1298C多态性被聚合酶链评估reaction-restriction片段长度多态性。与SHEsis软件。分析被用来评估可能的风险因素NSCL / P。降维(GMDR)检测基因基因的相互作用。A2756G, MTRR A66G,, and MTHFR基因C677T很多态性与风险有关NSCL / P (P < 0.05)。分析显示,地铁A2756G、地铁RA66G和MTHFR C667T可能增加NSCL / P的风险(优势比(或)= 0.270,95%置信区间(95%置信区间)= 0.106 - -0.689;0.069-0.368;CA MTHFR基因可能作为一个单体型保护因素NSCL / P(或= 0.658,95%可信区间= 0.470 - -0.923),助教单体型可能是一个危险因素(或= 2.001,95% CI = 1.301 - -3.077)。GMDR表明最优模型超预算四维模型与预测精度为75.73% (p = 0.001)和77.21% (p =0.001)和最好的交叉验证一致性分别为10/10和10/10。结论:地铁A2756G, MTRR A66G, MTHFRC677T多态性可能与NSCL / P和地铁之间的相互作用被发现A2756G, MTRR A66G, MTHFR C677T和A1298C多态性。

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