Association of AXIN2 and CDH1 genes polymorphism with non syndromic Oral Clefts: A meta-analysis

Abstract Non syndromic cleft lip with or without palate (NSCL/P) is a common congenital anomaly and genetic factors have been shown to be involved in oral clefts. Even if the relationship between the AXIN2 and CDH1 genes polymorphisms with NSCL/P has been investigated, inconsistent findings have been discovered. As a result, extensive meta-analysis was performed to obtain complete results in this field. By June 2021, all articles containing English abstracts with related keywords were searched from the PubMed, Web of Science, Scopus and Embase databases. Cochran test and I2 statistics were used to determine the percentage of heterogeneity in different studies. Comprehensive Meta-analysis v.2.0 software was used for analysis. Eleven relevant articles were selected from 56 articles obtained in the initial search for meta-analysis. The analysis provided no evidence of heterogeneity between studies. Overall, combined odds ratio did not show a statistically significant relationship between AXIN2 (rs2240308, rs7224837) and CDH1 (rs16260) gene polymorphisms with NSCL/P. Subgroup analysis in NSCL/P patients with Asian ethnicity showed that the frequency of G allele, AG and AG+GG genotypes of AXIN2 (rs7224837) were significantly higher than control group in allelic, heterozygote and dominant models, respectively. Also in NSCL/P patients with Asian ethnicity the frequency of A allele and CA+AA genotypes of CDH1 (rs16260) were significantly higher than control group in allelic and dominant models, respectively. However, these findings need to be confirmed by well-designed research with large sample sizes. Identifying genetic markers for NSCL/P may help expand our current knowledge of cleft palate physiopathology to predict its occurrence, as well as targeting genes at the molecular level to correct such problems.