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Association Between Genetic Variants in DEFB1 Gene and Dental Caries Susceptibility
Mohammad Javad Mokhtari1, Fatemeh Koohpeima2, Farzad Hashemi-Gorji3
1Department of Biology, Zarg. C., Islamic Azad University, Zarghan, Iran.
International Journal of Dentistry
|November 6, 2025
Summary
Genetic variations in the beta-defensin 1 (DEFB1) gene were not associated with dental caries susceptibility in this study. Further research with larger sample sizes is needed to confirm these findings for oral health.
Area of Science:
- Genetics
- Oral Health
- Molecular Biology
Background:
- Dental caries is a prevalent oral disease affecting a significant portion of the global population.
- Individual susceptibility to dental caries is influenced by genetic factors.
- The beta-defensin 1 (DEFB1) gene is implicated in oral immunity and may play a role in disease susceptibility.
Purpose of the Study:
- To investigate the association between specific DEFB1 gene variants (rs11362 and rs1799946) and dental caries.
- To determine if DEFB1 polymorphisms contribute to variations in dental caries risk.
- To analyze genetic associations in a case-control study.
Main Methods:
- A case-control study was conducted with 202 participants (119 cases with high caries, 83 controls with low caries).
- Genomic DNA was extracted from peripheral blood samples.
- Tetra-primer ARMS-PCR was used to genotype DEFB1 promoter polymorphisms rs11362 and rs1799946.
Main Results:
- No significant differences were observed in allelic, genotypic, or haplotype frequencies between the dental caries case and control groups.
- The studied DEFB1 variants did not show a statistically significant association with dental caries susceptibility in this cohort.
- Genotyping results indicated no link between the examined DEFB1 polymorphisms and caries prevalence.
Conclusions:
- The specific DEFB1 gene variants rs11362 and rs1799946 are not associated with dental caries in the studied Iranian population.
- Larger sample sizes and further functional studies are required to fully understand the role of DEFB1 in dental caries.
- Elucidating the impact of DEFB1 variations on gene expression is crucial for future research.
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