Association of chromosome 8q24 and MAFB gene polymorphism with nonsyndromic cleft lip with or without cleft palate in Ningxia population

Abstract:

Objective：To explore if genetic variation in chromosome 8q24（rs987525） and MAFB（rs13041247） gene contributes to nonsyndromic cleft lip with or without cleft palate（NSCL/P）. Methods：Study group consisted of 369 NSCL/P patients，their parents （303 fathers，311 mothers and 158 complete core families） and 433 controls. These 2 single nucleotide polymorphisms（SNPs） were genotyped by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）. Genotypic and allelic distributions and comparisons of rs987525 and rs13041247 in patients，their parents and controls were analyzed by X2 test and transmission dise－quilibrium test（TDT） and their association with NSCL/P was evaluated. Results：Case-control analysis found that there were signifi－cant differences in the frequency distributions of both genotypes and alleles in cleft lip，cleft lip with or without cleft palate groups of rs13041247 in MAFB gene（P=0.02，P=0.04，P=0.01，P=0.04），however，there was no statistical difference in the frequency distribu－tions of both genotypes and alleles in cleft lip group（P=0.25，P=0.51）. There was neither allelic nor genotypic association between rs987525 in chromosome 8q24 and NSCL/P（P=0.07，P=0.20，P=0.58，P=0.33，P=0.35，P=0.59）. TDT tests demonstrated that rs13041247 C allele in the locus of cleft lip patients had transmission（P=0.03）. rs987525 A allele in cleft lip，cleft palate and cleft lip with or without cleft palate patients had transmission（P=0.00，P=0.04，P=0.00）. Conclusions：MAFB gene rs13041247 SNP is associated with NSCL/P in Ningxia population.