Association Between Genetic Variants in DEFB1 Gene and Dental Caries Susceptibility

TL;DR

This study investigates whether specific genetic variations in the DEFB1 gene are linked to dental caries susceptibility, but finds no significant association.

Contribution

The study explores the association between DEFB1 gene variants rs11362 and rs1799946 and dental caries in a case–control design.

Findings

No significant differences in allelic, genotypic, or haplotype frequencies were found between high and low dental caries groups.

Larger sample sizes and functional studies are needed to identify caries-vulnerable loci and understand DEFB1 expression effects.

Abstract

Genetics plays a crucial role in determining individual susceptibility to dental caries. Certain beta-defensin 1 (DEFB1) gene variants may be linked to oral diseases. One of the most prevalent problems with oral health is dental caries. Between 60% and 90% of schoolchildren and the vast majority of adults suffer from dental caries. This study aimed to examine the genetic association between the DEFB1 gene variants rs11362 and rs1799946 and dental caries in a case–control study.

The study included 202 participants, of whom 119 demonstrated high dental caries, while 83 acted as controls with low dental caries. Most of them were referred to the Medical University's Dental Clinic in Shiraz, Iran. Following the acquisition of written and informed consent, genomic DNA was extracted from peripheral blood. Tetra-primer ARMS–PCR was employed to identify the DEFB1 promoter region polymorphisms rs11362 and rs1799946.

Allelic, genotypic, and haplotypes frequencies did not differ between the case and control groups, according to the genotyping results.

To find the dental caries-vulnerable loci in our case and control groups, more studies with a bigger sample size are essential. Furthermore, functional research is necessary to elucidate how these variations affect DEFB1 expression.

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