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Dinucleotide repeat polymorphism in intron II of human Toll‐like receptor 2 gene and susceptibility to rheumatoid arthritis
Author(s) -
Lee E. Y.,
Yim JJ.,
Lee H. S.,
Lee Y. J.,
Lee E. B.,
Song Y. W.
Publication year - 2006
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2006.00599.x
Subject(s) - allele , genotype , intron , biology , genetics , allele frequency , tlr2 , gene , tandem repeat , microbiology and biotechnology , immunology , receptor , innate immune system , genome
Summary 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.