@Article{ecn.2011.0293,
AUTHOR = {M. Mahmoudi, A. A. Amirzargar, A. R. Jamshidi, E. Farhadi, S. Noori, M. Avraee, B. Nazari, M. H. Nicknam},
TITLE = {Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis},
JOURNAL = {European Cytokine Network},
VOLUME = {22},
YEAR = {2011},
NUMBER = {4},
PAGES = {175--180},
URL = {http://www.techscience.com/ECN/v22n4/65815},
ISSN = {1952-4005},
ABSTRACT = {Objective. 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. Methods. 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: Results. The IL1α rs1800587,
IL1β rs16944 and IL1β rs1143634 were not significantly associated with AS. Genotype frequencies atIL1Rrs2234650
differed between cases and controls (x<sup>2</sup>=8.85; p=0.01); the IL1Rrs2234650 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 HLAB2702
patients rather than HLA-B2705 but was not associated with HLA-B27 negative patients (OR=0.33; p=0.01).
Conclusion. 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.},
DOI = {10.1684/ecn.2011.0293}
}