Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cytokines, costimulatory and counter-regulatory molecules play important roles in the regulation of inflammatory response, and are good candidates involved in the development of ankylosing spondylitis (AS). This study investigated the genotypic distribution of proinflammatory cytokines and T-cell negative regulator cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) in healthy subjects and AS patients. Genomic DNA was extracted from 143 AS patients and 166 ethnic-matched healthy subjects. Nine polymorphisms within the genes of interleukin-4 (IL-4) (-34T>C, -81A>G, -285C>T and -589T>C), interleukin-6 (IL-6) (-174G>C), interleukin-10 (IL-10) (-592A>C and -819T>C) and CTLA-4 (-318C>T and +49A>G) were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Significantly less AS patients carried the CTLA-4 high-expressing -318 T allele (P = 0.040). The CTLA-4 +49A>G genotypes were associated with circulatory levels of the inflammatory marker C-reactive protein (CRP) (P = 0.022). Our study documented the most complete genetic information of Taiwanese AS patients. The observations that CTLA-4 +49A>G genotypes are associated with circulatory CRP levels and significantly less AS subjects carrying CTLA-4 higher-secretor -318 T allele suggest the level and regulation of inflammation in AS subjects may be pre-determined by and associated with CTLA-4 genotypes.
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PMID:Polymorphisms of cytotoxic T lymphocyte-associated antigen-4 and cytokine genes in Taiwanese patients with ankylosing spondylitis. 2003 Jul 88

We aimed to investigate the effect of two common polymorphisms in interleukin-4 (IL-4) on serum IL-4 levels and the development of ankylosing spondylitis (AS) in the Chinese population. A total of 420 inpatients and outpatients diagnosed with AS were enrolled as the case group, and 330 healthy volunteers were selected as the control group. IL-4 rs2243250 and rs2227282 genotype frequencies in the latter were consistent with Hardy-Weinberg equilibrium (both P > 0.05). The TC+TT genotypes and T allele of rs2243250 were strongly associated with elevated AS risk [CC vs TC+TT: odds ratio (OR) = 2.378, 95% confidence interval (CI) = 1.746-3.239, P < 0.001; C vs T: OR = 2.588, 95%CI = 2.007-3.337, P < 0.001]. Moreover, the rs2227282 GG genotype and G allele may also correlate with increased risk (CC vs GC: OR = 1.555, 95%CI = 1.130-2.141, P = 0.007; CC vs GC+GG: OR = 1.833, 95%CI = 1.357-2.476, P < 0.001; C vs G: OR = 1.403, 95%CI = 1.086-1.811, P = 0.009). In addition, serum IL-4 concentrations were significantly lower in AS patients carrying the rs2243250 TT genotype compared to those with the CC and TC genotypes (both P < 0.05). Similarly, patients carrying the rs2227282 CC genotype demonstrated higher serum IL-4 levels than those with the GC and GG genotypes (both P < 0.05). Our study provides evidence that IL-4 polymorphisms associated with diminished serum IL-4 levels may be partially responsible for AS development in the Chinese population.
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PMID:Association between IL-4 gene polymorphisms, IL-4 serum levels, and ankylosing spondylitis. 2781 99