Association of genetic polymorphisms of VAX1 , MAFB , and NTN1 with nonsyndromic cleft lip with or without cleft palate in Chinese population

Nonsyndromic cleft lip with or without palate (NSCL/P) is a common birth defect involving genetic factors. We conducted this case–control study to verify the association of ten single-nucleotide polymorphisms (SNPs) of six genes ( VAX1 , MAFB , PAX7 , ABCA4 , NTN1 , and NOG ) with NSCL/P in the Chinese population. The study included 249 NSCL/P patients, 62 nonsyndromic cleft palate only (NSCPO) patients and 480 controls. Three loci, namely, VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774, were associated with NSCL/P (Bonferroni method adjusted p values were 0.020, 0.00031, and 0.030, respectively). We also found that the disease risk of individuals carrying both VAX1 rs7078160 and NTN1 rs4791774 was higher than those carrying only one of them ( p = 4.50 × 10 –4 and 6.03 × 10 –3 , respectively). SNPs of genes VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774 increased NSCL/P risk in the Chinese population.