Association Between Rs 1801131 And Rs L801133 Polymorphisms Of MTHFR Gene And Non-syndromic Cleft Lip With Or Without Cleft Palate

NSCL/P (non-syndromic cleft lip with or without cleft palate, NSCL/P) is acommoncongenital maxillofacial deformity. NSCL/P not only results in themaxillofacial deformities,but also affects patients’hearing, sound, physical andmental health, creating a heavy burdenon family and society, and affecting the qualityof the population. Now NSCL/P is considered acomplex disease,and molecularbiology studies suggest that many genes are related to NSCL/P.Folate metabolic pathway is essential in themaintenance DNA methylation anddenovo DNA synthesis and DNA repair. If the key enzyme of folate metabolism genemutation, its activity will change significantly. It affects DNA methylation and lead tochromosomal aberrations. MTHFR is a dimeric enzyme that catalyzes conversion of5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The gene mutation ofMTHFR ,that results in the concentration of plasma HCY and the DNA methylation.anomaly, effect folate metabolic pathway.We detected the association of the SNPs gene locus rs1801131 and rs1801133polymorphisms of MTHFR gene and non-syndromic cleft lip with or without cleftpalate, by 344 NSCL/P patients and 314 controls.0bjective: To investigate the association of the rs1801131 and rs1801133polymorphisms of MTHFR gene with NSCL/P in Shanxi province,China.Methods The rs1801131 and rs1801133 polymorphisms of MTHFR gene wasexamined by PCR-RFLP in both 334 patients and the 314 controls in Shanxiprovince,China. Hardy-Weinberg equilibrium, genotype and allele frequencies istested by Pearsonχ2.At the same time , the value of the the Odds ratios, (OR) and95% confidence interval (95% CI) was estimated. The risk of NSCL/P which normalgenotype and abnormal genotype lead to were analysed by Logistic Regession and 95% CI.Results The genotypic distribution of rs1801131 and rs1801133 were notdeviated from the Hardy-Weinberg Equilibrium. There was no statistical difference ingenotype and allele frequencies for MTHFR rs1801131 and rs1801133 variantsbetween patients and healthy individuals(P＞0.05). There was certain associationbetween NSCL/P and the joint action of rs1801131 and rs1801133 polymorphisms ofMTHFR gene.Conclusion There was no association between NSCL/P and rs1801131 andrs1801133 polymorphisms of MTHFR gene. It was easier that simultaneous mutationof the two SNPs gene locus rs1801131 and rs1801133 could lead to NSCL/P.