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Int J Immunogenet. 2006;33(3):211-5.

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

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제1저자 이은영, 임재준 · 교신저자 송영욱

소속 (1)
  1. Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Korea.

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.

그 밖의 정보
출판 형태
Journal Article, Research Support, Non-U.S. Gov't
저널
International journal of immunogenetics · ISSN 1744-3121
MeSH
Adolescent · Adult · Aged · Alleles · Arthritis, Rheumatoid / genetics / immunology · Asian People · Dinucleotide Repeats / genetics / immunology · Epitopes / genetics / immunology · Female · Gene Frequency · Genetic Predisposition to Disease / genetics · Humans · Introns / genetics / immunology · Korea · Male · Middle Aged · Polymorphism, Genetic* · Rheumatoid Factor / immunology · Toll-Like Receptor 2 / genetics / immunology
Substances
Epitopes · TLR2 protein, human · Toll-Like Receptor 2 · Rheumatoid Factor