Investigation of the SNPs of IRF6 gene in non-syndromic cleft lip and/or palate (NSCLP) in a Turkish population
Journal Title: Hippocrates Medical Journal - Year 2022, Vol 2, Issue 1
Abstract
Introduction Non-syndromic cleft lip and/or palate (NSCLP) is a complex malformation with both genetic and environmental effects and interferon regulatory factor 6 (IRF6) is the most focused gene to unravel the genetic etiology of the disease since its important role in the formation and maintenance of the oral periderm to ensure appropriate palatal adhesion has been demonstrated. The aim of this study was to investigate the association between two SNPs (rs2235371 and rs2013162) of IRF6 gene and NSCLP in Turkish population. Materials and Methods Genotyping of both SNPs were performed with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method in 38 NSCLP patients, their mothers and the same number of healthy control individuals. Results Our results did not indicate significant differences in neither genotypic nor allelic distributions between children and controls. The same situation was observed when the mothers of children were also compared with the controls. Conclusion Considering both contradictive results in different populations worldwide and our relatively small sample size that may be a limitation for this study, we strongly encourage the replication studies with larger sample sizes to draw a precise conclusion about the role of IRF6 gene variants for susceptibility to NSCLP.
Authors and Affiliations
Zeynep YEĞİN, Ömer USLUKAYA, Fatih TAŞKESEN, İbrahim YILDIRIM
Keywords
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- EP ID EP702906
- DOI https://doi.org/10.29228/HMJ.9
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