IADR Abstract Archives

Beta-Defensin 1 is Associated with Recurrent Aphthous Stomatitis

Objectives: Aphthous ulcer or canker sore or aphtous stomatitis is a type of mouth ulcer that presents as a painful open sore inside the mouth or upper throat characterized by a break in the mucous membrane. There is evidence for a genetic component in recurrent aphthous stomatitis (RAS). Genes associated with RAS are likely involved in host immune responses. Beta-defensin 1 (DEBF1) codes for antimicrobial peptides that provide innate defense against microbes on the epithelial surfaces. The goal of this study was to evaluate the association between the occurrence of RAS and genetic variation in DEFB1

Methods: RAS experience and DNA samples were obtained from the University of Pittsburgh School of Dental Medicine Dental Registry and DNA Repository (DRDR). 81 subjects who had RAS were compared to a control group of 352 subjects who did not express RAS. Two variants in the promoter region of DEFB1 thought to be functional (rs1800972 and rs11362) were genotyped using TaqMan chemistry and PCR endpoint analysis. The chi-square test was used to test genotype and allele frequency differences with alpha of 0.05.

Results: We found an association between rs1800972 and RAS (p=0.03).

Marker

RAS Cases (N=81)

Controls (N=350)

DEFB1 rs1800972

 

 

CC

6

9

CG

17

105

GG

40

209

c2 and p-value

6.679

0.03546

C

29

123

G

97

523

c2 and p-value

1.054

0.304612

 

 

 

DEFB1 rs11362

 

 

CC

30

119

CT

27

154

TT

13

58

c2 and p-value

1.587

0.45218

C

87

392

T

53

270

c2 and p-value

0.412

0.520969

Conclusions: Genetic variation in DEFB1 is associated with the occurrence of RAS. The Dental Registry and DNA Repository is supported by the University of Pittsburgh School of Dental Medicine and NIH Grant 5TL1-RR024155.

Division: IADR/AADR/CADR General Session
Meeting: 2013 IADR/AADR/CADR General Session (Seattle, Washington)
Location: Seattle, Washington
Year: 2013
Final Presentation ID: 2242
Abstract Category|Abstract Category(s): Oral Medicine & Pathology
Authors
  • Kim, Sojin  ( University of Pittsburgh, Pittsburgh, PA, USA )
  • Kim, Kenneth  ( University of Pittsburgh, Pittsburgh, PA, USA )
  • Deeley, Kathleen  ( University of Pittsburgh, Pittsburgh, PA, USA )
  • Vieira, Alexandre  ( University of Pittsburgh, Pittsburgh, PA, USA )
  • SESSION INFORMATION
    Poster Session
    Oral Mucositis and Therapy
    03/22/2013