Dinucleotide repeat polymorphism in intron II of human Toll-like receptor 2 gene and susceptibility to rheumatoid arthritis

Int J Immunogenet. 2006 Jun;33(3):211-5. doi: 10.1111/j.1744-313X.2006.00599.x.

Abstract

Human Toll-like receptors (TLRs) participate in innate immune response and signal the activation of adaptive immunity. The presence of a functional intronic polymorphism consisting of guanine-thymine repeats in TLR2 gene was recently reported. Here, we investigated a dinucleotide repeat polymorphism in intron II of TLR2 in Korean patients with rheumatoid arthritis (RA). The numbers of guanine-thymine [(GT)(n)] repeats in intron II of the TLR 2 gene were counted in 183 patients with RA and in 148 healthy controls, using the gene scanning technique. We classified alleles into two subclasses for further analysis, 12-16 GT repeats (S allele) and 17-28 repeats (L allele). By subgroup analysis, we also examined whether the S allele is associated with the presence of shared epitope (SE), rheumatoid factor (RF), joint erosion and extra-articular complications. S-allele frequency was significantly increased in patients with RA than in healthy controls [30.3% vs. 23.0%, P = 0.03, or 1.46, 95% confidence interval (CI) 1.03-2.07], and genotypes containing S alleles were more frequent in patients with RA than in healthy controls (54.4% vs. 46.5%. P = 0.04, or 1.57, 95% CI 1.01-2.42). A skewed S-allele distribution was not found to be related to the presence of SE. Subgroup analysis showed no genotypic or allele frequency differences between patients with/without RF, joint erosion, or extra-articular complications. Genotype containing shorter GT repeats in intron II of the TLR2 gene may confer susceptibility to RA in Koreans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / immunology
  • Asian People
  • Dinucleotide Repeats / genetics*
  • Dinucleotide Repeats / immunology
  • Epitopes / genetics
  • Epitopes / immunology
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Introns / genetics*
  • Introns / immunology
  • Korea
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Rheumatoid Factor / immunology
  • Toll-Like Receptor 2 / genetics*
  • Toll-Like Receptor 2 / immunology

Substances

  • Epitopes
  • TLR2 protein, human
  • Toll-Like Receptor 2
  • Rheumatoid Factor