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Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis
  1. Yi Xia1,
  2. Yan Liang2,
  3. Shi Guo1,
  4. Jie-Gen Yu3,
  5. Meng-Sha Tang1,
  6. Peng-Hui Xu1,
  7. Fen-Dui Qin1,
  8. Guo-Pin Wang1
  1. 1 Department of Humanities and management, Wannan Medical College, Wuhu, China
  2. 2 Department of Nephrology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
  3. 3 School of Basic Medicine, Wannan Medical College, Wuhu, China
  1. Correspondence to Guo-Pin Wang, Department of Humanities and management, Wannan Medical College, Wuhu 241000, China; gpwwnmc{at}


Purpose of the study The aim of this study was to perform a meta-analysis to derive precise estimation of the association of interleukin-23 receptor (IL-23R), IL-1 receptor 2 (IL-1R2), IL-12 beta (IL-12B), IL-10 and tumour necrosis factor (TNF)-α polymorphisms with ankylosing spondylitis (AS) susceptibility.

Study design A systematic literature search was conducted to identify the relevant studies. Pooled OR with 95% CI was calculated to assess the strength of the association in a fixed or random-effects model.

Results A total of 13 917 cases and 19 849 controls in 43 eligible studies were included in the meta-analysis. Seventeen single-nucleotide polymorphisms (SNPs) in the abovementioned five cytokine genes were evaluated. The results indicate that the nine SNPs (rs11209026, rs1004819, rs10489629, rs11465804, rs1343151, rs11209032, rs1495965, rs7517847, rs2201841) of IL-23R are associated with AS susceptibility in all study subjects in the allelic model. Moreover, stratification by ethnicity identified a significant association between seven SNPs of IL-23R and AS susceptibility in Europeans and Americans, but not in Asians. In addition, the IL-10–819  C/T and TNF-α−857 C/T polymorphisms also confer susceptibility to AS, especially in Asian population.

Conclusion The results suggested that the genetic susceptibility for AS is associated with the nine SNPs of IL-23R in overall population. In the subgroup analysis, significant associations were shown in European and American population, but not in Asian population. Our results also suggest that IL-10–819  C/T and TNF-α−857 C/T polymorphism might be associated with AS risk, especially in Asian population.

  • ankylosing spondylitis
  • interleukin
  • tumor necrosis factor
  • meta-analysis
  • polymorphism
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  • YX and YL contributed equally.

  • Contributors Study design and the writing of the manuscript: YX, YL and GPW. Data collection, preparation and analysis: SG, JGY and MST, manuscript revision and final language editing: PHX and FDQ. Guarantor: GPW.

  • Funding The Humanities and Social Science Research Project of Anhui (SK2018A0202). The Provincial Quality Engineering Project of Anhui (2014zy046).

  • Competing interests None declared.

  • Patient consent Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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