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

Cited 29 time in Web of Science Cited 32 time in Scopus

Lee, E Y; Yim, J-J; Lee, H S; Lee, Y J; Lee, E B; Song, Y W

Issue Date
Int J Immunogenet. 2006 Jun;33(3):211-5.
AdolescentAdultAgedAllelesArthritis, Rheumatoid/*genetics/immunologyAsian Continental Ancestry GroupDinucleotide Repeats/*genetics/immunologyEpitopes/genetics/immunologyFemaleGene FrequencyGenetic Predisposition to Disease/*geneticsHumansIntrons/*genetics/immunologyKoreaMaleMiddle AgedRheumatoid Factor/immunologyToll-Like Receptor 2/*genetics/immunologyPolymorphism, Genetic
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.
1744-3121 (Print)
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College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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