The antimicrobial peptide DEFB1 is associated with caries

J Dent Res. 2010 Jun;89(6):631-6. doi: 10.1177/0022034510364491. Epub 2010 Apr 6.

Abstract

Genetics is an important component in the determination of individual susceptibility to caries and periodontal diseases. Since beta defensin 1 (DEFB1) localizes in the oral cavity, we tested if variation in DEFB1 is associated with caries and periodontitis. We analyzed 3 single-nucleotide polymorphisms in DEFB1 in DNA samples from unrelated individuals. Carrying a copy of the variant allele of the DEFB1 marker rs11362 (G-20A) increased the DMFT and DMFS scores more than five-fold. Also, carrying a copy of the variant allele of the DEFB1 marker rs179946 (G-52A) correlated with low DMFT scores. We found a high-caries-experience haplotype (GCA), which increased DMFT scores two-fold, and a low- caries-experience haplotype (ACG), which decreased DMFT scores two-fold, in the DEFB1 promoter. No association between DEFB1 genetic markers and periodontal disease was found. Our results suggest that functional polymorphisms of DEFB1 are potential markers for caries.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aggressive Periodontitis / genetics
  • Alleles
  • Antimicrobial Cationic Peptides / genetics*
  • Cytosine
  • DMF Index
  • Dental Caries / genetics*
  • Dental Caries Susceptibility / genetics
  • Disease Progression
  • Female
  • Genetic Markers / genetics
  • Genetic Variation / genetics
  • Guanine
  • Haplotypes
  • Humans
  • Linkage Disequilibrium / genetics
  • Male
  • Middle Aged
  • Periodontitis / genetics
  • Pilot Projects
  • Polymorphism, Single Nucleotide / genetics
  • Promoter Regions, Genetic / genetics
  • Young Adult
  • beta-Defensins / genetics*

Substances

  • Antimicrobial Cationic Peptides
  • DEFB1 protein, human
  • Genetic Markers
  • beta-Defensins
  • Guanine
  • Cytosine
  • Adenine