Dental caries and enamelin haplotype

Area of Science:

• Genetics
• Dental Research
• Human Physiology

Background:

• The enamelin gene (ENAM) is a proposed candidate for caries susceptibility.
• Previous studies have suggested a link between ENAM and dental caries, but conclusive evidence is lacking.

Purpose of the Study:

• To investigate the association between ENAM gene variants and caries susceptibility in a French pediatric population.
• To identify specific ENAM mutations or polymorphisms that may confer increased risk for severe dental caries.

Main Methods:

• Sequencing of ENAM coding exons and exon-intron boundaries in 250 children with severe caries and 149 caries-free controls.
• Identification and analysis of single-nucleotide polymorphisms (SNPs) and their frequencies.
• Statistical and evolutionary analyses, including haplotype interaction analysis, to assess the impact of variants on caries susceptibility.

Main Results:

• Twenty-three SNPs were identified in the ENAM gene; none directly altered ENAM function individually.
• No single SNP was significantly associated with caries susceptibility or protection when analyzed independently.
• Haplotype analysis revealed that the co-occurrence of two specific exonic SNPs (rs7671281 and rs3796704) in exon 10 increased caries susceptibility 2.66-fold, irrespective of environmental factors.

Conclusions:

• The enamelin gene (ENAM) is a significant genetic candidate for caries susceptibility.
• A specific combination of ENAM variants, rather than individual SNPs, appears to confer a substantially increased risk for severe dental caries.
• These findings highlight the importance of genetic predisposition in the development of dental caries.