Researth Of Association Between Rs2236225Polymorphism In MTHFD1Gene And Non-syndromic Cleft Lip With Or Without Cleft Palate In Shanxi Population

Non-syndromic cleft lip with or without cleft palate(NSCL/P) has an inherited component and, many studies suggest, a relationship with folate. Attempts to find folate related genes associated with clefts have, however, often been inconclusive.5,10-methylenetetrahydro folate dehydrogenase(MTHFD1) is catalytic enzymes invoved in three consecutive reaction within folic acid--a unit of carbon metabolism,Genetic variants in MTHFD1are associated with a number of common diseases, including neural tubedefects (NTDs)、cancer and coronary artery disease (CAD).its gene polymorphism may related to the occurrence of NSCL/P, but the reports of MTHFD1gene in NSCL/P is less.In this study:Objective To investigate the association between the rs2236225polymorphism in MTHFD1gene and non-syndromic cleft lip with or without cleft palate (NSCL/P) in Shanxi han population.Methods294cases of the han Chinese NSCL/P patients treated in Stomatological Department of Shanxi Medical University First Hospital and Stomatological Department of Jinzhong First hospital from September2010to August2011were selected as the case group,and126cases of han nationality trauma children in the same period were selected as control group.The peripheral blood samples was collected from the research objects.and DNA was extracted..PCR-RFLP was used to identify genotypes of rs2236225single nucleotide polymorphisms (SNPS) in MTHFD1gene, and the database adapted to SPSS17.0was established.Pearson X2inspection of group correlation analysis was used to test Hardy-Weinberg equilibrium of the genotype distribution, and to compare the genotype distribution and allele frequency,also used to analysis odds ratios of the allele frequency.Results The genotype distribution of case group and its two clinical phenotype group and control group are all conform to the Hardy-Weinberg equilibrium law (P>0.05);The genotype distribution of the case group and its two clinical phenotype crowd were compared with the control group, there were no significant difference (P=0.178,P=0.186,P=0.351); Allele frequency in the case group and its two clinical phenotype were compared with the control group,there were no significant difference (P=0.111,OR=0.765,95%CI0.551-1.064; P=1.151, OR=0.770,95%CI0.539-1.100;P=0.189,OR=0.756,95%CI0.498-1.148)。 Conclusion The polymorphism of rs2236225in MTHFD1gene is not associated with NSCL/P in shanxi han nationality population.