Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Association Between Ptch1 and Rad54b Single-Nucleotide Polymorphisms and Non-Syndromic Orofacial Clefts in the Northeast Population of Iran Publisher



Farimani RM1 ; Aziminezhad M2, 3 ; Khorramkhorshid HR4 ; Ebadifar A1, 5 ; Tohidkhah S6 ; Jafarian Z7 ; Kamali K8 ; Nazari Z2 ; Ebrahimzadehvesal R9
Authors
Show Affiliations
Authors Affiliations
  1. 1. Department of Orthodontics, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Non-Communicable Diseases Research Center, Neyshabur University of Medical Sciences, Neyshabur, Iran
  3. 3. UMR, INSERM U 1122, IGE-PCV, Interaction Gene-Environment Enpathophysiologie Cardiovasculaire, Universite De Lorraine, Nancy, France
  4. 4. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  5. 5. Dentofacial Deformities Research Center Research Institute of Dental Sciences, Faculty of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  6. 6. Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  8. 8. Department of Public Health, Faculty of Public Health, Zanjan University of Medical Sciences, Zanjan, Iran
  9. 9. Pardis Genetic Laboratory, Mashhad, Iran

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.
Related Docs
1. Polymorphisms of Atp-Binding Cassette, Sub-Family A, Member 4 (Rs560426 and Rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis, Life (2021)
2. Prevalence, Trend, and Associated Risk Factors for Cleft Lip With/Without Cleft Palate: A National Study on Live Births From 2016 to 2021, BMC Oral Health (2024)
3. Stem Cell-Based Regenerative Approaches for the Treatment of Cleft Lip and Palate: A Comprehensive Review, Stem Cell Reviews and Reports (2024)
4. Systems Genetics of Nonsyndromic Orofacial Clefting Provides Insights Into Its Complex Aetiology, European Journal of Human Genetics (2019)
5. Global Burden of Orofacial Clefts and the World Surgical Workforce, Plastic and Reconstructive Surgery (2021)
Experts (# of related papers)
Nima Rezaei (1)
Mohammad Abdollahi (1)