Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

Masoumeh Soleymani; Asghar Ebadifar; Maryam Khosravi; Emran Esmaeilzadeh; Hamid Reza Khorram Khorshid

doi:10.18502/ajmb.v14i2.8885

Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

Avicenna J Med Biotechnol. 2022 Apr-Jun;14(2):181-185. doi: 10.18502/ajmb.v14i2.8885.

Authors

Masoumeh Soleymani¹, Asghar Ebadifar², Maryam Khosravi¹, Emran Esmaeilzadeh³, Hamid Reza Khorram Khorshid^{1

4}

Affiliations

¹ Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
² Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Department of Orthodontics, Faculty of Dentistry, Shahid Behehsti University of Medical Sciences, Tehran, Iran.
³ Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.
⁴ Personalized Medicine and Genometabolomics Research Center, Hope Generation Foundation, Tehran, Iran.

Abstract

Background: Non-syndromic cleft lip occurs by the interaction of environmental and genetic factors. The purpose of the current study was to analyze the association of Single Nucleotide Polymorphisms (SNPs) in IRF6 and NSCL/P in an Iranian population.

Methods: A group of 105 children with NSCL/P and 185 normal controls were included in the current study. Genotyping of IRF6 rs2013162 and rs2235375 was performed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method.

Results: A substantial association of AA and CA genotypes in rs2013162 with the risk of NSCL/P (AA vs. CC; OR=2.36; 95%CI [1.05-5.29], p=0.004; and CA vs. CC; OR=0.47; 95%CI [0.28-0.79], p=0.018) was found. However, there were no important associations between A allele and risk of NSCL/P (p=0.980). According to logistic regression analysis results, subjects with GG genotype and G allele in rs2235375 polymorphism had increased risk of NSCL/P.

Conclusion: The IRF6 polymorphisms are associated with the susceptibility to NSCL/P in Iranian population.

Keywords: IRF6; Non-syndromic cleft lip and palate; Orofacial clefts; Polymorphism.