Relationship of polymorphisms of the Interleukin-1 gene cluster to occurrence and severity of rheumatoid arthritis

• Published in: Tissue antigens 2002-02, Vol.59 (2), p.122-126
• Main Authors: Kaijzel, E. L., Van Dongen, H., Bakker, A. M., Breedveld, F. C., Huizinga, T. W. J., Verweij, C. L.
• Format: Article
• Language: English
• Subjects: Alleles; Arthritis, Rheumatoid - diagnosis; Arthritis, Rheumatoid - epidemiology; Arthritis, Rheumatoid - genetics; association; Female; Humans; Interleukin-1; Interleukin-1 - genetics; Interleukin-1 - pharmacology; Molecular Sequence Data; Multigene Family; Polymerase Chain Reaction; polymorphism; Polymorphism, Genetic; Sequence Analysis, DNA
• ISSN: 0001-2815; 1399-0039
• DOI: 10.1034/j.1399-0039.2002.590208.x

: Interleukin‐1 (IL‐1) has been implicated in the pathogenesis of rheumatoid arthritis (RA). We investigated whether ΙL‐1 gene locus polymorphisms are associated with susceptibility to or severity of RA. Genotyping for IL‐1α, IL‐1β and IL‐1Ra single nucleotide polymorphisms (SNPs) performed in a cross‐sectional group of 312 consecutive RA patients (RA‐group 1) and a cohort of 94 incident female RA patients (RA‐group 2) revealed that the rare IL‐1RN + 2017 C allele was significantly increased in RA compared to controls (n = 245). A retrospective analysis in RA‐group 1 showed no significant associations between IL‐1 genotypes and disease severity. A prospective study in RA‐group 2 demonstrated that the extent of joint destruction over 12 years was higher in patients genotyped heterozygous for the IL‐1 A + 4845, IL‐1B + 3953 and IL‐1RN + 5111 SNPs compared to homozygous wildtype patients, although differences did not reach statistical significance. These data indicate that the IL‐1RN + 2017 polymorphism is associated with susceptibility to RA.