The Association Of MAFB Gene Polymorphism With Nonsyndromic Cleft Lip With Or Without Cleft Palate In Ningxia Population

Objective: To study the association between non-syndrome cleft lip and palate andMAFB （rs6072081﹑rs6065259﹑rs17820943﹑rs11696257） gene polymorphism inNingXia Hui and Han population.Methods：We collected512cases of NSCL/P as a patient group which contains224caseof Hui nationality，191cases of Han nationality，227cases of patients`fathers,263cases ofpatients`mothers,174cases of complete3core family members (patients and their parents),142cases of single parents families(patients and their single parents).And also collected505cases of newborns as the contrast group. The MAFB (rs6072081﹑rs6065259﹑rs17820943﹑rs11696257) gene SNP were determined with the use of TaqMan SNPs genotyping methodsand the data was analyzed by case-control analysis, transmission disequilibrium test(TDT),and family based association test (FBAT).Results： Case-control analysis found that, there is a statistical significance fromcomparing the genotypes and alleles frequency in patients with the contrast group in MAFBof rs6065259﹑rs17820943﹑rs11696257(P<0.05); A statistical significance from comparingthe alleles frequency in patients with the contrast group in MAFB of rs6072081(P=0.04); Thecase group was divided into cleft lip, cleft palate, cleft lip and palate compared with thecontrol group of analysis found that: A statistical significance from comparing the allelesfrequency in Cleft lip and palate with the contrast group of rs6072081(P=0.04); There weresignificant differences in rs6065259genotype and allele among cleft lip group compared withthe control group （P=0.04,P=0.03）and there were significant differences in rs17820943﹑rs6072081genotype and allele among cleft lip group and cleft lip and palate group compared with the control group （P<0.05）, but all of the four locus no difference in cleft palate（P>0.05）.The distribution of alleles at rs6072081on MAFB was significantly differentbetween cleft lip and cleft lip with or without cleft palate and cleft palate only groups andcontrol in the Huis(P<0.05). The distribution both genotypes and alleles at rs17820943wassignificantly different between cleft lip and cleft lip with or without cleft palate groups andcontrol in the Huis(P<0.05). The distribution both genotypes and alleles at rs11696257wassignificantly different between cleft lip and cleft lip with or without cleft palate groups andcontrol in the Hans (P<0.05).Conclusions: rs6072081, rs6065259, rs17820943, rs11696257single nucleotidepolymorphism was associated with NSCL/P in Ningxia population.