Objectives: The purpose of this meta-analysis was to reveal a potential association of the four functional polymorphisms in human Beta-defensin 1 (DEFB1) gene: rs1047031(c*5G > A) at 3'UTR and rs11362 (-20 G > A), rs1800972(-44 C > G), and rs1799946 (-52 G > A) at 5'UTR with the risk of common oral cavity pathologies that included periodontitis, caries, lichen planus, and recurrent aphthous stomatitis.
Methods: The relevant studies were obtained by the two researchers from PubMed, Scopus, and Web of Science up to April 29, 2020. The manual search of the reference lists was also performed. Studies on DEFB1 gene polymorphisms and oral cavity disorders, using the case-control genetic association analysis approach, and published as full texts in English were included. To assess the association strength, odds ratios (ORs) with their 95% confidence intervals (CIs) were extracted.
Results: Thirteen publications met the inclusion criteria and were incorporated in this meta-analysis. Statistically significant values of the association tests were found only for the rs1047031 polymorphism. Allele distribution in the rs1047031 polymorphism was significantly associated with susceptibility to oral cavity pathologies (adjusted P value = 0.003). The rare variant allele carriers had a significantly higher risk for oral disasters under recessive (CC vs CT + TT), and CC vs CT models. No significant correlations between rs11362, rs1800972, and rs1799946 and the risk of oral pathologies were revealed.
Conclusions: Significant association between rs1047031 polymorphism and risk of oral pathologies has been found, and therefore, we suggest to include this polymorphism in future research concerning the genetic background of the oral cavity diseases.
Keywords: DEFB1 gene; human beta-defensin 1; oral diseases; oral pathology; single nucleotide polymorphism.
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