Sage Journals: Discover world-class research

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.

Keywords

periodontal disease dental caries association beta defensin polymorphism

Get full access to this article

View all access options for this article.

References

Boniotto

Hazbon

Jordan

Lennon

Eskdale

Alland

. (2004). Novel hairpin-shaped primer assay to study the association of the -44 single-nucleotide polymorphism of the DEFB1 gene with early-onset periodontal disease. Clin Diagn Lab Immunol 11:766-769.

Bretz

Corby

Schork

Robinson

Coelho

Costa

. (2005). Longitudinal analysis of heritability for dental caries traits. J Dent Res 84:1047-1051.

Chung

Dommisch

Yin

Dale

(2007). Expression of defensins in gingiva and their role in periodontal health and disease. Curr Pharm Des 13:3073-3083.

Conry

Messer

Boraas

Aeppli

Bouchard

Jr (1993). Dental caries and treatment characteristics in human twins reared apart. Arch Oral Biol 38:937-943.

Diamond

Kimball

Krisanaprakornkit

Ganz

Dale

(2001). Detection of beta-defensins secreted by human oral epithelial cells. J Immunol Methods 256:65-76.

Dunsche

Acil

Siebert

Harder

Schroder

Jepsen

(2001). Expression profile of human defensins and antimicrobial proteins in oral tissues. J Oral Pathol Med 30:154-158.

Ihaka

Gentleman

(1996). A language for data analysis and graphics. J Comp Graphic Stat 5:299-314.

Jurevic

Chrisman

Mancl

Livingston

Dale

(2002). Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic groups. Genet Test 6:261-269.

Kinane

Peterson

Stathopoulou

(2006). Environmental and other modifying factors of the periodontal diseases. Periodontol 2000 40:107-119.

10.

Krisanaprakornkit

Weinberg

Perez

Dale

(1998). Expression of the peptide antibiotic human beta-defensin 1 in cultured gingival epithelial cells and gingival tissue. Infect Immun 66:4222-4228.

11.

Kurland

Schreiner

Diamond

(2006). In vivo beta-defensin gene expression in rat gingival epithelium in response to Actinobacillus actinomycetemcomitans infection. J Periodontal Res 41:567-572.

12.

Lewontin

(1964). The interaction of selection and linkage. I. General considerations, heterotic models. Genetics 49:49-67.

13.

Liss

Evenson

Loewy

Ayer

(1982). Changes in the prevalence of dental disease. Bureau of Economic and Behavioral Research, Council on Dental Health and Health Planning. J Am Dent Assoc 105:75-79.

14.

Mathews

Jia

Guthmiller

Losh

Graham

Johnson

. (1999). Production of beta-defensin antimicrobial peptides by the oral mucosa and salivary glands. Infect Immun 67:2740-2745.

15.

Michalowicz

Diehl

Gunsolley

Sparks

Brooks

Koertge

. (2000). Evidence of a substantial genetic basis for risk of adult periodontitis. J Periodontol 71:1699-1707.

16.

Milanese

Segat

Crovella

(2007). Transcriptional effect of DEFB1 gene 5′ untranslated region polymorphisms. Cancer Res 67:5997

17.

Ouhara

Komatsuzawa

Yamada

Shiba

Fujiwara

Ohara

. (2005). Susceptibilities of periodontopathogenic and cariogenic bacteria to antibacterial peptides, β-defensins and LL37 produced by human epithelial cells. J Antimicrob Chemother 55:888-896.

18.

PA Department of Health (2002). Status of oral health in Pennsylvania. p. 51. Data accessed from http://www.education.state.pa.us/portal/server.pt/community/oral_health/14180/oral_health_reports___documents/557620 .

19.

Peterson

(2003). The World Oral Health Report 2003; continuous improvement of oral health in the 21st century, the approach of the WHO global oral health programme. Geneva, Switzerland: World Health Organization.

20.

Ranade

Chang

Ting

Pei

Hsiao

Olivier

. (2001). High-throughput genotyping with single nucleotide polymorphisms. Genome Res 11:1262-1268.

21.

Sahasrabudhe

Kimball

Morton

Weinberg

Dale

(2000). Expression of the antimicrobial peptide, human beta-defensin 1, in duct cells of minor salivary glands and detection in saliva. J Dent Res 79:1669-1674.

22.

Scott

Hancock

(2000). Cationic antimicrobial peptides and their multifunctional role in the immune system. Crit Rev Immunol 20:407-431.

23.

Shuler

(2001). Inherited risks for susceptibility to dental caries. J Dent Educ 65:1038-1045.

24.

Sun

Arnold

Fernandez-Golarz

Parrish

Almekinder

. (2006). Human beta-defensin-1, a potential chromosome 8p tumor suppressor: control of transcription and induction of apoptosis in renal cell carcinoma. Cancer Res 66:8542-8549.

25.

Territo

Ganz

Selsted

Lehrer

(1989). Monocyte-chemotactic activity of defensins from human neutrophils. J Clin Invest 84:2017-2020.

26.

Tesse

Cardinale

Santostasi

Polizzi

Manca

Mappa

. (2008). Association of beta-defensin-1 gene polymorphisms with Pseudomonas aeruginosa airway colonization in cystic fibrosis. Genes Immun 9:57-60.

27.

US Census Bureau, 2000 (2002). Census of population and housing, summary population and housing characteristics, PHC-1-40, Pennsylvania. Washington, DC: US Census Bureau. http://www.census.gov/prod/cen2000/phc-1-1-pt1.pdf (accessed Feb 2, 2010).

28.

Vanderas

Gizani

Papagiannoulis

(2006). Progression of proximal caries in children with different caries indices: a 4-year radiographic study. Eur Arch Paediatr Dent 7:148-152.

29.

Vieira

Marazita

Goldstein-McHenry

(2008). Genome-wide scan finds suggestive caries loci. J Dent Res 87:435-439.

30.

Weinberg

Krisanaprakornkit

Dale

(1998). Epithelial antimicrobial peptides: review and significance for oral applications. Crit Rev Oral Biol Med 9:399-414.

31.

Wohlfahrt

Hodges

Hinrichs

Michalowicz

(2006). No association between selected candidate gene polymorphisms and severe chronic periodontitis. J Periodontol 77:426-436.

32.

Yang

Chertov

Bykovskaia

Chen

Buffo

Shogan

. (1999). Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6. Science 286:525-528.

33.

Zasloff

(2002). Antimicrobial peptides of multicellular organisms. Nature 415:389-395.

Supplementary Material

Please find the following supplemental material available below.

For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.

For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.

0.00 MB

0.03 MB