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Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis |
European Cytokine Network. Volume 22, Number 4, 175-80, December 2011, Research article
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 Full Text
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Author(s) : M. Mahmoudi, A.A. Amirzargar, A.R. Jamshidi, E. Farhadi, S. Noori, M. Avraee, B. Nazari, M.H. Nicknam |
Summary : <\;p>Ankylosing spondylitis (AS) is one of the most common causes of inflammatory arthritis, with an estimated prevalence of 0.1-0.9%. Genetic factors have been strongly implicated in its aetiology, and heritability as assessed by twin studies has been estimated to be >90%. HLA- B27 is almost essential for inheritance of AS\; it is not merely sufficient for explaining the pattern of familial recurrence of the disease. This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleotide polymorphisms (SNPs) in the IL-1 family:
IL-1a (-889C/T) rs1800587,
IL-1b (-511C/T) rs16944,
IL-1b (+3962C/T) rs1143634,
IL-1R (Pst-1 1970C/T) rs2234650 and
IL-1RA (Mspa-1 11100C/T) rs315952.<\;/p><\;p>99 unrelated Iranian AS patients and 217 healthy control subjects were selected. Cytokine typing was performed by the polymerase chain reaction with sequence-specific primers assay. The allele and genotype frequencies of the polymorphisms were determined:<\;/p><\;p>The
IL1α rs1800587,
IL1β rs16944 and
IL1β rs1143634 were not significantly associated with AS. Genotype frequencies at
IL1R rs2234650 differed between cases and controls (χ
2\=8.85\; p\=0.01)\; the
IL1R rs2234650 C/T and T/T genotypes were less common in AS patients than controls. The
IL1R rs2234650 C/T genotype was inversely associated with AS comparing with the
IL1R rs2234650 C/C genotype (OR\=0.48\; p\=0.005).
IL1R rs2234650 C/T genotype was less common in patients than controls (OR\=0.37\; p\=0.02).Furthermore
IL1R rs2234650 T allele was strongly associated with HLA-B2702 patients rather than HLA-B2705 but was not associated with HLA-B27 negative patients (OR\=0.33\; p\=0.01).<\;/p><\;p>Polymorphisms of
IL1α rs1800587,
IL1β rs16944 and
IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study
IL1R rs2234650 was significantly associated and carriage of T allele in
IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.<\;/p> |
Keywords : ankylosing spondylitis, gene polymorphism, IL1 gene cluster, andHLA-B27 subtypes |
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