Association Between IRF6Gene And Non-syndromic Cleft Lip With Or Without Cleft Palate In Xinjiang Uyghur Population

Objective:In the current study,investigations were performed to determine the relationship between SNPs of interferon regulatory factor6and non-syndromic cleft lip with and without cleft palate in Xinjiang Uyghur population.Methods:100Uyghur non-syndromic cleft lip with or without palate patients from Xinjiang were included as the case in this study and60Uyghur 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 IRF6gene,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:12high-frequency SNPs mutation were found rs7545538s CC genotype and C allele,rs7545542site C allele and rs2235373site G allele is associated with NSCL/P.No significant association was found between rs861019rs7552506,rs2235377,rs2235371,rs2013162,rs12403006,rs846808,rs34743335,rs151296501and NSCL/P.rs2235371, rs2013162, rs7552506, rs861019, rs22353771oci is in the same block,we found strong linkage disequilibrium in rs2235371and rs2235377(D’=0.97) composed of four haploid type:CCGGT> CCGAT> CACAT> TAGAC,one of the most significant single type is CCGAT (P=0.032).And rs12403006,rs34743335, rs7454538loci exist strong linkage disequilibrium,consisting of three kinds of haploid type:TAC> ATG> TAG,one of the most significant single type are TAC (P=0.009),the TAG (P=0.003).Conclusion:In this study,we found that IRF6gene polymorphisms associated with non-syndromic cleft lip with or without cleft palate in Xinjiang Uygur people.