Association Between Ptch1 and Rad54b Single-Nucleotide Polymorphisms and Non-Syndromic Orofacial Clefts in the Northeast Population of Iran Publisher



Farimani RM¹ ; Aziminezhad M^{2, 3} ; Khorramkhorshid HR⁴ ; Ebadifar A^{1, 5} ; Tohidkhah S⁶ ; Jafarian Z⁷ ; Kamali K⁸ ; Nazari Z² ; Ebrahimzadehvesal R⁹
Source: Avicenna Journal of Medical Biotechnology Published:2022

Abstract

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 popu-lation. 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 Re-striction 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 polymor-phisms 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. © 2022, Avicenna Journal of Medical Biotechnology. All rights reserved.