Lara D. Veeken · 2009 · 49 citations · 38 references
Life SciencesGeneticsImmunologyImmunogeneticsImmunopathologyMedical GeneticsAutoimmune Disease Susceptibility GenesAutoimmune DiseasesDisease Susceptibility LociHaplotype AnalysisToll-like Receptor GeneticsToll-like ReceptorsHla Genotype AssociationsHla Risk AllelesHuman Leukocyte Antigen-b51Single-nucleotide Polymorphism AnalysisSingle-nucleotide Polymorphism VariationToll-like Receptor 4 GeneticsToll-like Receptor Gene PolymorphismsToll-like Receptor Haplotypes
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.
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Criteria for diagnosis of Behçet's disease
B Weichsler, Fereydoun Davatchi, Thomas Lehner et al. · The Lancet · 1990 · 3.1K citations
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Nancy C. Arbour, Eva Lorenz, Brian C. Schutte et al. · Nature Genetics · 2000 · 2K citations
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Stefan Kiechl, Eva Lorenz, Markus Reindl et al. · New England Journal of Medicine · 2002 · 1K citations · Full text
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