Analysis of the TGF-beta1 promoter polymorphism (C-509T) in patients with chronic periodontitis

J Clin Periodontol. 2003 Jun;30(6):519-23. doi: 10.1034/j.1600-051x.2003.00323.x.

Abstract

Background: A polymorphism in the promoter region of the transforming growth factor beta-1 (TGF-beta1) gene was described at position -509. This polymorphism represents a C-to-T base exchange, which creates a YY1 consensus sequence in an area involved with down transcription regulation. This polymorphism has been associated with risk for asthma and allergies. In this study we investigated the association between this polymorphism and chronic periodontitis severity.

Methods: Genomic DNA from oral mucosa of 87 Caucasian subjects was amplified by PCR, and digested with Eco81I restriction endonuclease. The alleles were separated by polyacrylamide gel electrophoresis. The differences in genotype distribution from those expected by Hardy-Weinberg equilibrium, and the significance of the differences in observed frequencies of the polymorphism in moderate and severe disease and healthy groups were assessed by the chi2 test.

Results: There was a difference in the presence of the different alleles and genotypes among the healthy, moderate and severe periodontitis groups. The allele T was seen at 57.7% in the group with severe periodontitis and 37.8% and 35.4% in the healthy group and moderate periodontitis group, respectively (p=0.0387). The genotype T/T was found at 38.5% in the group with severe periodontitis, and at a frequency of 8% in the healthy group (p=0.0258).

Conclusion: These results demonstrate that the polymorphism at bp -509 in the TGF-beta1 promoter may have a small effect on the modulation of the inflammatory process during periodontitis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Case-Control Studies
  • Chronic Disease
  • Cytosine
  • Female
  • Gene Frequency
  • Genetic Markers
  • Humans
  • Male
  • Mouth Mucosa / pathology
  • Periodontitis / genetics*
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Severity of Illness Index
  • Thymine
  • Transforming Growth Factor beta / genetics*
  • Transforming Growth Factor beta1

Substances

  • Genetic Markers
  • TGFB1 protein, human
  • Transforming Growth Factor beta
  • Transforming Growth Factor beta1
  • Cytosine
  • Thymine