Association Between MTHFR Gene SNPs And Non-syndromic Cleft Lip With Or Without Cleft Palate In Xinjiang Uyghur Population

Objective:To study the association between rs1801133,rs3818762,rs1801131,rs1476413,rs1994798 SNPs in methylenetetra hydrofolate reductase(MTHFR) gene and non-syndromic cleft lip with and without cleft palate in Xinjiang Uyghur population.Methods:100 Uyghur non-syndromic cleft lip with or without palate patients from Xinjiang were included as the case in this study and 60 Uyghur inpatients with upper respiratory tract infection were selected as control.2ml peripheral venous blood was collected from each subject,and the genome DNA were extracted.Next generation sequencing was used to detect in and around the MTHFR gene,and compared sequencing result with the information on the genome database.Quality control was performed in order to find out the high frequency SNPs,and genetic analysis were made.Results: There were no significant differences in the frequency distribution of both genotypes and allels when cases were compared to controls at the rs1801133,rs3818762,rs1801131,rs1476413,rs1994798 loci(P>0.05). Analysis of the linkage disequilibrium show that:Above five loci were located in the same block,rs3818762 and rs1476413 loci presents the strong linkage disequilibrium(r2=0.938,D’=1).Possible haplotypes were:GCTAA >GCTAG > CTGGG>GCTGG>GCGGG,and five were no significant difference between cases and controls in haplotype distribution(P > 0.05).Conclusion:This study was unable to confirm that MTHFR gene polymorphisms associated with non-syndromic cleft lip with or without cleft palate in Xinjiang Uyghur people.