Rheumatology Advance Access published online on April 16, 2003
Rheumatology, doi:10.1093/rheumatology/keg232R
Rheumatology © British Society for Rheumatology 2003; all rights reserved
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Original Papers
1 ARC Epidemiology Unit, University of Manchester, Manchester
* Corresponding author. E-mail: bill{at}fs1.ser.man.ac.uk.
Received 22 July 2002
; accepted 3 December 2002
Objective. The aim of this study was to investigate if the inheritance of specific polymorphisms of interleukin 1 (IL-1) A, IL-1B and IL-1 receptor antagonist (IL-1RN) genes could affect the susceptibility to Behçet's disease (BD). Methods. A total of 132 BD patients and 105 healthy controls were genotyped for IL-1A -889, IL-1B -511, -35, +5810, +5887, and IL-1RN +8006, +8061, +9589, +11100 single nucleotide polymorphisms, and IL-1RN 86-bp variable number of tandem repeat polymorphism. Results. Inheritance of the C allele of the IL-1A -889 polymorphism was associated with BD (OR=2.0, P=0.01) and inheritance of the IL-1A -889C/IL-1B +5887T haplotype was identified as an increased risk for BD. The IL-1A -889 and IL-1B +5887 CC/TT combined genotype was significantly more observed in BD cases than in controls (57.5 vs 38.1%, OR=2.2, P=0.003). No association with BD was found for other investigated polymorphisms in the IL-1B and IL-1RN genes. Conclusion. Susceptibility to BD is increased in individuals carrying both the IL-1A -889C and IL-1B +5887T haplotype. Individuals who are both homozygous CC at IL-1A -889 and TT at IL-1B +5887 appear to have twice the risk of developing BD as individuals having other IL-1A -889/IL-1B +5887 genotypes.
Key words: Behçet's disease, Interleukin 1, IL-1 receptor antagonist, Single nucleotide polymorphism, Haplotype.
Association of specific interleukin 1 gene cluster polymorphisms with increased susceptibility for Behçet's disease
2 ICRF Genetic Epidemiology Laboratory, St James's University Hospital, Leeds
3 Oral Disease Research Centre, Bart's and the London, Queen Mary's School of Medicine and Dentistry, UK
4 Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
2-analysis was used to compare the allele and genotype frequencies of the cases and controls. IL-1A and IL-1B haplotypes were reconstructed using the Phase program.![]()
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