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

en 36504563 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. Cleft lip, Cleft palate, Polymorphism, PTCH1, RAD54B 310 316 https://www.ajmb.org/En/Article.aspx?id=60519 https://www.ajmb.org/PDF/En/FullText/60519.pdf RezaMorvaridi Farimani Department of Orthodontics, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran91939MohsenAzimi-Nezhad UMR, INSERM U 1122, IGE-PCV, Interaction Géne-Environment Enpathophysiologie Cardiovasculaire, Université De Lorraine, Nancy, France91940Hamid RezaKhorram KhorshidGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran42AsgharEbadifar Dentofacial Deformities Research Center Research Institute of Dental Sciences, Faculty of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran91941SabaTohidkhah Tehran University of Medical Sciences, Tehran, Iran91942ZahraJafarian Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran91943KooroshKamaliDepartment of Public Health, Faculty of Public Health, Zanjan University of Medical Sciences, Zanjan, Iran89ZeinabNazari Non-Communicable Diseases Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran91944RezaEbrahimzadeh-Vesal Pardis Genetic Laboratory, Tehran, Iran91945