PT - JOURNAL ARTICLE AU - Ruey-Hong Wong AU - James Cheng-Chung Wei AU - Chun-Huang Huang AU - Hong-Shen Lee AU - Shang-Yan Chiou AU - Shin-Hua Lin AU - Yan-Wei Cai AU - Pei-Hsuan Hung AU - Ming-Fuu Wang AU - Shun-Fa Yang TI - Association of <em>IL-12B</em> Genetic Polymorphism with the Susceptibility and Disease Severity of Ankylosing Spondylitis AID - 10.3899/jrheum.110613 DP - 2011 Nov 01 TA - The Journal of Rheumatology PG - jrheum.110613 4099 - http://www.jrheum.org/content/early/2011/10/28/jrheum.110613.short 4100 - http://www.jrheum.org/content/early/2011/10/28/jrheum.110613.full AB - Objective Interleukin 23 (IL-23) stimulates the differentiation of T helper 17 (Th17) cells, which are involved in the pathogenesis of ankylosing spondylitis (AS). Binding of IL-23 to the IL-23 receptor complex activates Janus kinases 2 and tyrosine kinase 2, which phosphorylate IL-23R and subsequently promote the transcription of the IL-17 gene. IL-12B encodes a p40 subunit common to IL-12 and IL-23. We evaluated the effects of IL-12B and IL-23R genotype on the occurrence and clinical features of AS. Methods A total of 362 patients with AS and 362 healthy controls were enrolled in the study. Genotypes of IL-12B A1188C (rs3212227) and IL-23R C2370A (rs10889677) were identified by polymerase chain reaction/restriction fragment-length polymorphism. Disease activity and functional status were assessed by Bath AS indices. Results Subjects carrying IL-12B CC [matched relative risk (RRm) 1.93, 95% CI 1.23–3.03] and IL-12B AC (RRm 1.73, 95% CI 1.21–2.46) genotypes had a significantly greater risk of developing AS than subjects with the IL-12B AA genotype. Subjects carrying both IL-12B CC and IL-23R AA genotypes also had a significantly higher risk (RRm 2.98, 95% CI 1.51–5.89) of developing AS compared to those with IL-12B AA and IL-23R CC/CA genotypes, and this interaction between IL-12B and IL-23R was significant. Patients with AS who had IL-12B CC and IL-12B AC genotypes had an obviously increased Bath Ankylosing Spondylitis Disease Activity Index score compared to those who carried the IL-12B AA genotype (4.3 vs 3.7). Conclusion The IL-12B A1188C genotype was associated with the development and disease severity of AS.