title: The antimicrobial peptide DEFB1 is associated with caries.
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.
authors.affiliation: Department of Periodontics and Preventive Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.
authors.forename: A
authors.initials: A
authors.lastname: Ozturk
authors.forename: P
authors.initials: P
authors.lastname: Famili
authors.forename: A R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000225:Adenine; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D010520:Aggressive Periodontitis / Q000235:genetics; D000483:Alleles; D023181:Antimicrobial Cationic Peptides / Q000235:genetics*; D003596:Cytosine; D004245:DMF Index; D003731:Dental Caries / Q000235:genetics*; D003733:Dental Caries Susceptibility / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006147:Guanine; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010518:Periodontitis / Q000235:genetics; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D055815:Young Adult; D023083:beta-Defensins / Q000235:genetics*
chemical_list: D023181:Antimicrobial Cationic Peptides; C406407:DEFB1 protein, human; D005819:Genetic Markers; D023083:beta-Defensins; D006147:Guanine; D003596:Cytosine; D000225:Adenine