ABSTRACT
Cleft lip with or without cleft palate [CL/P] is one of the most common congenital anomalies and the etiology of orofacial clefts is multifactorial. Transforming growth factor alpha [TGFA] is expressed at the medial edge epithelium of fusing palatal shelves during craniofacial development. In this study, the association of two important TGFA gene polymorphisms, BamHI [rs11466297] and RsaI [rs3732248], with CL/P was evaluated in an Iranian population. The frequencies of BamHI and RsaI variations were determined in 105 unrelated Iranian subjects with nonsyndromic CL/P and 218 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant. The BamHI AC genotype was significantly higher [p=0.016] in the patients [12.4%] than the control group [5.0%]. The BamHI C allele was significantly higher [p=0.001; OR=3.4, 95% CI: 1.6-7.4] in the cases [8.0%] compared with the control group [2.5%]. Our study showed that there was an association between the TGFA BamHI variation and nonsyndromic CL/P in Iranian population