OBJECTIVETo investigate the association between fibroblast growth factor 3 (FGF3) gene rs4980700 and rs4631909 polymorphism and non-syndromic oral clefting (NSOC).

METHODSBlood samples from 186 NSOC patients, patients' parents and 200 controls were collected. DNA was extracted and PCR-restriction fragment length polymorphism (PCR-RFLP) was used to identify genotypes of the samples. Case-control analyses and transmission disequilibrium test (TDT) and family based association test (FBAT) analyses were also carried out.

RESULTSIn case-control analysis, there were significant differences in rs4980700 genotype and allele among NSOC patients compared with the control group (P < 0.05) and there were significant differences in rs4631909 genotype and allele among NSOC patients compared with the control group (P < 0.05), but no difference in cleft palate only (P = 0.49). In TDT, the G allele of rs4980700 had an overtransmission (P < 0.05) and the C allele of rs4631909 had an overtransmission (P < 0.05) in NSOC. FBAT analysis also showed a significant association between FGF3 gene rs4980700, rs4631909 polymorphism and NSOC.

CONCLUSIONFGF3 gene rs4980700 and rs4631909 polymorphism were associated with NSOC.