Investigation of FGF1 and FGFR gene polymorphisms in a group of Iranian patients with nonsyndromic cleft lip with or without cleft palate.

OBJECTIVE:Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common craniofacial malformations determined by the interaction between multiple genes and environmental risk factors. Genes coding for fibroblast growth factors and their receptors (FGF/FGFR genes) are considered as excellent candidate genes, which their proteins play important roles in craniofacial and palatal development. The aim of the current study was to assess the possible association between FGF1 rs34010 C>A and FGFR1 rs13317 A>G gene polymorphisms and susceptibility to NS-CL/P in an Iranian population. DESIGN:This case-control retrospective study was performed on a total of 200 subjects including 100 NS-CL/P patients and 100 healthy unrelated controls. Tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect FGF1 rs34010 C>A and FGFR1 rs13317 A>G SNPs. RESULTS:Our data demonstrated that the FGF1 rs34010, CA and CA+AA genotypes were associated with a reduced risk of NS-CL/P the in codominant (CA vs. CC: OR=0.29, 95%CI=0.16-0.55, P=0.001) and dominant (CA+AA vs. CC: OR=0.36, 95%CI=0.19-0.69, P=0.001) tested inheritance models, respectively. Additionally, the analysis of FGF1/FGFR1 genotype combinations revealed that rs34010CA/rs13317AA and rs34010CA/rs13317AG combinations were associated with a lower risk of NS-CL/P (OR=0.357, P=0.008 for the rs34010CA/rs13317AA; OR=0.226, P=0.004 for the rs34010CA/rs13317AG). CONCLUSIONS:Our findings suggest that the FGF1 rs34010 C/A polymorphism was associated with a decreased risk of NS-CL/P, and might act as a protective factor against NS-CL/P predisposition.

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