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Rheumatology Advance Access originally published online on April 24, 2009
Rheumatology 2009 48(6):638-642; doi:10.1093/rheumatology/kep077
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© The Author 2009. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Association of TLR4 polymorphisms with Behçet's disease in a Korean population

Yukihiro Horie1, Akira Meguro2, Masao Ota3, Nobuyoshi Kitaichi1, Yoshihiko Katsuyama4, Yuko Takemoto1, Kenichi Namba1, Kazuhiko Yoshida1, Yeong Wook Song5, Kyung Sook Park6, Eun Bong Lee5, Hidetoshi Inoko7, Nobuhisa Mizuki3 and Shigeaki Ohno1,8

1Department of Ophthalmology and Visual Sciences, Hokkaido University Graduate School of Medicine, Sapporo, 2Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, 3Department of Legal Medicine, 4Department of Pharmacy, Shinshu University School of Medicine, Matsumoto, Japan, 5Department of Internal Medicine and Graduate Program in Immunology, National Research Laboratory of Rheumatic Diseases, Seoul National University, 6Department of Biology, College of Natural Sciences, Sungshin Women's University, Seoul, Korea, 7Department of Molecular Life Science, Division of Molecular Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara and 8Department of Ocular Inflammation and Immunology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Correspondence to: Akira Meguro, Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama 236-0004, Japan. E-mail: akirameguro2002{at}yahoo.co.jp


  Abstract

Objectives. HLA-B51 is strongly associated with Behçet's disease (BD) in any ethnic background. We recently reported that another gene, Toll-like receptor-4 (TLR4) is also implicated in BD in a Japanese population. To confirm these results, we investigated polymorphisms in the TLR4 gene in Korean patients with BD.

Methods. In this study, 119 patients with BD and 141 healthy controls were enrolled; every participant was a Korean. Nine single nucleotide polymorphisms previously detected in TLR4 by direct sequencing were analysed for an association with BD.

Results. The most frequent haplotype, TAGCGGTAA, was significantly increased in HLA-B*51-positive BD patients (49.5%), compared with healthy control participants [32.3%; P = 0.029; odds ratio (OR) = 2.01; 95% CI 1.25–3.23]. This haplotype was also significantly increased in BD patients with arthritis (48.2%; P = 0.003; OR = 1.96; 95% CI 1.26–3.26). There were no significant differences in the allele and genotype frequencies of patients and controls for each single nucleotide polymorphism.

Conclusions. The haplotype of TLR4 may increase the risk for developing BD and the complication of arthritis in the Korean population.

KEY WORDS: Behçet's disease, Toll-like receptor 4, Korea, Polymorphism

Submitted 7 October 2008; revised version accepted 11 March 2009.
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