title: IL1 gene polymorphisms in enthesitis related arthritis category of juvenile idiopathic arthritis (ERA-JIA).
abstract: Cytokine gene loci are one of the potential susceptibility factors in immuno-inflammatory diseases. Interleukin1 (IL-1) is a major monocyte derived proinflammatory cytokine that mediates tissue damage and cartilage loss in chronic arthritis. IL-1 locus has been linked to various autoimmune diseases, but data on juvenile idiopathic arthritis (JIA) is limited. Ninety-four patients with enthesitis related arthritis (ERA) category of JIA (ILAR criteria) were included in the study. One hundred eighty-five healthy blood donors were used as controls. IL-1Ra VNTR polymorphism was done by PCR using specific primers, and allele assignment was done on product size obtained on 2% agarose gel. IL-1α-889 and IL-β-511 polymorphism was done using PCR-RFLP method. Among 94 patients, 87 were males, and the mean age at onset of disease was 11.8 + 1.8 years; 17 had history of uveitis, and 13 had positive family history. Forty-two had enthesitis, and 51 had inflammatory back pain; all had arthritis. Seventy-six were HLA B27 positive. All three loci genotypes were in the Hardy-Weinberg equilibrium in controls. There was no difference in genotype frequency among patients and controls for IL-1Ra, IL-1α-889 and IL-β-511. IL1*RN2 homozygosity was more common in patients, whereas carriage rate for IL1*RN1 was less frequent in patients. Haplotype frequencies were also similar in both groups. IL-1 gene cluster is not a susceptibility locus for ERA.
authors: Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. amita@sgpgi.ac.in
authors: A
authors: A
authors: Aggarwal
authors: R
authors: R
authors: Srivastava
authors: S
authors: S
authors: Singh
authors: P
authors: P
authors: Kumar Dubey
mesh_terms: D000293:Adolescent; D000483:Alleles; D001171:Arthritis, Juvenile / Q000235:genetics*; D002648:Child; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D007375:Interleukin-1