[Association between single nucleotide polymorphisms of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B gene and non-syndromic cleft lip with or without cleft palate].

Objective: To reveal the association between the single nucleotide polymorphism (SNP) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene rs17820943 locus and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the southern Chinese Han population.
Methods: Genotyping of MAFB gene rs17820943 polymorphism was carried out in 300 patients with NSCL/P, 354 normal controls, and an additional 168 case-parent trios with matrix-assisted laser desorption/ionisation time-of-flight (MALDI-TOF) mass spectrometry. Then based on the genotyping results, both a case-control association study and a case-parent trio association study were performed.
Results: Significant differences were found in the allele and genotype frequencies of rs17820943 locus between case and control groups (Pallele = 0.001 and Pgenotype = 0.002, respectively). To be specific, the odds radio (OR) values and 95% confidence interval (95% CI) of allele T (frequencies of cases:controls = 0.358:0.448) and genotype TT (frequencies of cases:controls = 0.110:0.195) were ORT = 0.69 (95% CI: 0.55-0.86) and OR(TT) = 0.43 (95% CI: 0.26-0.70), respectively. Subsequent case-parent trio analysis also indicated an association between MAFB rs17820943 variant and the risk of NSCL/P (ORT(T vs. C) = 0.55, 95% CI: 0.41-0.75, P value of transmission disequilibrium test was 0.000).
Conclusion: Polymorphism of MAFB gene rs17820943 locus is associated with NSCL/P in the southern Chinese Han population; MAFB rs17820943 variant may be a susceptible gene of NSCL/P.