Association of IRF6 rs2235371 Polymorphism with  Non-Syndromic Cleft Lip/Palate: A Meta-analysis

Hossein Neamatzadeh; Masoud Zare-Shehneh; Mahta Mazaheri; Karim Daliri; Elahe Akbarian; Elnaz Sheikhpour

doi:10.18502/wjpn.v4i1.7541

Hossein Neamatzadeh Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Masoud Zare-Shehneh Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Mahta Mazaheri Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Karim Daliri Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
Elahe Akbarian Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Elnaz Sheikhpour Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran

DOI: https://doi.org/10.18502/wjpn.v4i1.7541

Keywords: Cleft Lip and Palate; Craniofacial; IRF6 gene; Polymorphism; Meta-analysis

Abstract

Background: The previous published data on the association between interferon regulatory factor 6 (IRF6) polymorphisms and non-syndromic Cleft Lip/Palate (NSCL ± P) risk remained inconclusive. The aim of this study was to conduct a meta-analysis to further assess the associations.

Methods: A comprehensive search in PubMed, EMBASE, Web of Science, and CNKI for all eligible studies up July 2021.

Results: A total of 23 studies with 6,161 cases and 8,919 controls were selected for this meta-analysis. Overall pooled analysis suggest a significant association between IRF6 rs2235371 polymorphism and CL±P risk under all the five genetic models, i.e., allele (A vs. G: OR=0.754, 95% CI 0.628-0.905, P=0.002), homozygote (AA vs. GG: OR=0.621 95% 0.405-0.953, P=0.029), heterozygote (AC vs. GG: OR=0.619, 95% CI 0.485-0.791, P≤0.001), dominant (AA+AG vs. GG: OR=0.550, 95% CI 0.381-0.794, P=0.001) and recessive model (AA vs. AG+GG: OR=0.583, 95% CI 0.423-0.804, P=0.001). Subgroup analysis by ethnicity showed that rs2235371 was associated with NSCL±P risk in Asians.

Conclusion: This meta-analysis provides strong evidences that IRF6 rs2235371 might be associated with risk of NSCL ± P.