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

Reza Morvaridi  Farimani; Mohsen  Azimi-Nezhad; Hamid Reza  KhorramKhorshid; Asghar  Ebadifar; Saba  Tohidkhah; Zahra  Jafarian; Koorosh  Kamali; Zeinab  Nazari; Reza  Ebrahimzadeh-Vesal

doi:10.18502/ajmb.v14i4.10486

Reza Morvaridi Farimani Department of Orthodontics, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Mohsen Azimi-Nezhad Non-Communicable Diseases Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran
Hamid Reza KhorramKhorshid Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Asghar Ebadifar Department of Orthodontics, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Saba Tohidkhah Tehran University of Medical Sciences, Tehran, Iran
Zahra Jafarian Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Koorosh Kamali Department of Public Health, Faculty of Public Health, Zanjan University of Medical Sciences, Zanjan, Iran
Zeinab Nazari Non-Communicable Diseases Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran
Reza Ebrahimzadeh-Vesal Pardis Genetic Laboratory, Mashhad, Iran

DOI: https://doi.org/10.18502/ajmb.v14i4.10486

Keywords: Cleft lip, Cleft palate, Polymorphism, PTCH1, RAD54B

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 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.