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Association of Single Nucleotide Polymorphisms in the IL 27 Gene with Rheumatoid Arthritis
Author(s) -
ParadowskaGorycka A.,
Raszkiewicz B.,
Jurkowska M.,
FelisGiemza A.,
RomanowskaProchnicka K.,
Mańczak M.,
Olesinska M.
Publication year - 2014
Publication title -
scandinavian journal of immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.934
H-Index - 88
eISSN - 1365-3083
pISSN - 0300-9475
DOI - 10.1111/sji.12209
Subject(s) - haplotype , single nucleotide polymorphism , genotype , rheumatoid arthritis , allele , genotyping , snp , immunology , polymorphism (computer science) , allele frequency , medicine , gene , biology , genetics
Rheumatoid arthritis ( RA ) is one of the autoimmune diseases, where different polymorphisms in cytokine genes play a pathogenic role. Interleukin 27 ( IL ‐27) is a novel pro‐/anti‐inflammatory cytokine, an excellent candidate for chronic inflammatory disease studies. The aim of the study was to identify polymorphisms in the IL ‐27 gene and their possible association with susceptibility to and severity of RA . Two hundred and seventy‐four patients with RA and of 295 healthy individuals were examined for −924 A / G and 4730 T / C IL 27 gene polymorphisms using PCR ‐ RFLP method and T aq M an SNP genotyping assay, respectively. Haplotype frequencies of IL ‐27 polymorphisms were estimated using SHE sis platform. Frequencies of the −924 GG genotype and the −924 G allele were statistically higher in RA patients comparing with the healthy control group ( P = 0.008 and P = 0.004, respectively). Overall, strong LD was observed between the IL 27 gene −924 A / G and 4730 T / C polymorphisms (D′ = 0.613, r2 = 0.199). From four possible haplotypes, frequencies of two ( CA and CG ) showed significant differences between both examined groups (respectively: P < 0.001 and P = 0.001062). The genotype–phenotype analysis showed significant association between the IL ‐27 4730 T / C polymorphism and HAQ score and means value of the ESR , additionally they revealed that individuals with the polymorphic allele −924 G had more advanced disease than wild‐type allele carriers. Present findings indicated that IL 27 −924 A / G polymorphism may be involved in susceptibility to RA in the Polish population.