Associations of ABCA4 and MAFB with Nonsyndromic Cleft Lip with or without Cleft Palate in a Northeastern Chinese Population

Abstract

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital deformity worldwide with multifaceted etiology. The interactions of genes and environmental factors may be related to NSCL/P susceptibility. In the present study, we aimed to identify the relationship between ABCA4 (rs481931, rs560426) and MAFB (rs17820943) polymorphisms and NSCL/P in a northeastern Chinese population. A total of 248 patients, including 98 nuclear families, and 280 healthy controls were recruited for this study. The three SNPs were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Differences in the allele and genotype frequency between cases and controls were evaluated by chi-square test with OR values and 95% confidence intervals. The family-based association test 5.5 (FBAT 5.5) software package for genetic analysis of pedigrees with complex diseases was used to evaluate the patients and their parents' core families. In MAFB, statistical evidence of an association between rs17820943 (p=0.022) and NSCL/P was observed in case-control analyses. FBATs showed over-transmission of the C allele at the rs481931 polymorphism (p=0.039). However, no statistically significant difference was observed at rs560426. In addition, the C (rs481931)-G (rs560426) haplotype (P=0.004) was associated with the occurrence of NSCL/P. This study shows that rs481931 in ABCA4 and rs17820943 in MAFB are involved in the occurrence of NSCL/P in a northeastern Chinese population.