Polymorphisms in the interleukin-4 and IL-4 receptor genes modify risk for chronic inflammatory arthropathies in women

Rheumatoid and juvenile idiopathic arthritis (RA, JIA) are chronic inflammatory arthropathies with polygenic autoimmune background. We analysed the IL-4 +33 C/T and IL-4R Q551R single nucleotide polymorphisms (SNPs) in 294 RA, 72 JIA and 165 controls from Northern Ireland. Analysis of the individual...

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Bibliographic Details
Published in:Experimental and molecular pathology 2006-12, Vol.81 (3), p.239-244
Main Authors: Suppiah, V., Rooney, M., Vandenbroeck, K.
Format: Article
Language:English
Subjects:
Arginine - genetics
Arthritis
Arthritis, Juvenile - genetics
Arthritis, Rheumatoid - genetics
Biological and medical sciences
Case-Control Studies
Cytosine
Diseases of the osteoarticular system
Female
Gene Frequency
Glutamine - genetics
Homozygote
Humans
IL-4
Interleukin-4 - genetics
Investigative techniques, diagnostic techniques (general aspects)
Ireland
Juvenile idiopathic
Male
Medical sciences
Miscellaneous. Osteoarticular involvement in other diseases
Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
Polymorphism, Single Nucleotide - genetics
Q551R
Receptors, Interleukin-4 - genetics
Rheumatoid
Risk Factors
Susceptibility
Thymine
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Summary:Rheumatoid and juvenile idiopathic arthritis (RA, JIA) are chronic inflammatory arthropathies with polygenic autoimmune background. We analysed the IL-4 +33 C/T and IL-4R Q551R single nucleotide polymorphisms (SNPs) in 294 RA, 72 JIA and 165 controls from Northern Ireland. Analysis of the individual phenotypes (RA or JIA) showed that both the IL-4 +33 TT ( P = 0.02; OR: 0.25, 95% CI: 0.07–0.87) and the IL-4R Q551R CC genotypes ( P = 0.001; OR: 0.19, 95% CI: 0.06–0.56) were exclusively decreased in female RA patients compared to female controls. Similar non-significant trends were observed in female JIA patients (OR: 0.25, 95% CI: 0.03–2.11 and OR: 0.31, 95% CI: 0.07–1.47, respectively). Analysis of the common phenotype (inflammatory arthropathy; i.e. JIA and RA combined) corroborated the unique association of these polymorphisms with female inflammatory arthropathy ( P = 0.013 and 0.002, respectively). This is the first demonstration of sex-specific association of the two foremost genes of the IL-4 signalling cascade with chronic inflammatory arthropathies.
ISSN:0014-4800
1096-0945
DOI:10.1016/j.yexmp.2006.02.001