Association between PTCH1 and RAD54B Single-Nucleotide Polymorphisms and Non-syndromic Orofacial Clefts in the Northeast Population of Iran

Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is a common developmental disorder of the head and neck with a multifactorial etiology. the current study aimed to evaluate the potential association of ptch1 (rs10512248) and rad54b (rs12681366) polymorphisms with nscl/p in the northeast iranian population. methods: in the present study, blood samples were taken from 122 subjects with nscl/p and 161 healthy controls. polymerase chain reaction (pcr) followed by restriction fragment length polymorphism (rflp) were used to conduct genotyping of single-nucleotide polymorphisms. results: although differences were observed between cases and controls in rs10512248 and rs12681366, our data did not support a significant association of these polymorphisms with nscl/p in our population. conclusion: our findings suggest that polymorphisms of rs10512248 and rs12681366 may not be potential risk factors for nscl/p in the northeast iranian population due to the multifactorial and multiethnicity characteristics of some genes.