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Genetic variation of rs7958311 in P2X7R gene is associated with the susceptibility and disease activity of ankylosing spondylitis
  1. Zhipeng Pan1,
  2. Xu Zhang2,3,
  3. Yubo Ma2,3,
  4. Shengqian Xu4,
  5. Zongwen Shuai4,
  6. Faming Pan2,3,
  7. Guoping Sun1
  1. 1 Department of Medical Oncology, First Affiliated Hospital of Anhui Medical University, Hefei, China
  2. 2 Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China
  3. 3 School of Public Health, The Key Laboratory of Major Autoimmune Diseases, Anhui Medical University, Hefei, China
  4. 4 Department of Rheumatism and Immunity, First Affiliated Hospital of Anhui Medical University, Hefei, China
  1. Correspondence to Prof. Faming Pan, Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui 230032, China; famingpan{at}; Prof. Guoping Sun, Department of Medical Oncology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, China; sunguoping{at}


Objectives To describe association between the genetic variation of inflammation-associated gene, P2X7R, and ankylosing spondylitis (AS) susceptibility.

Methods Four single nucleotide polymorphisms (SNPs) of P2 X 7 R gene were genotyped in 673 patients with AS and 687 healthy controls. Allele and genotype frequencies and different genetic models were performed to calculate ORs and 95% CIs, the demographic and clinical characteristics of patients were recorded. The data analyses were also conducted by sex.

Results Compared with controls, genetic variation in rs7958311 but not the other three SNPs was statistically significant in female patients (χ2=6.907, p=0.032). Specifically, the P2 X 7 R gene rs7958311 polymorphism A allele showed a protective effect in AS susceptibility (OR=0.704, p=0.049, pFDR=0.061). In addition, female individuals with GA and/or AA genotypes had a lower risk of having AS compared with those with GG genotype (GA vs GG: OR=0.446, p=0.012, pFDR=0.030; AA vs GG: OR=0.440, p=0.039, pFDR=0.061; GA/AA vs GG: OR=0.445, p=0.009, pFDR=0.030). Furthermore, individuals with A allele (ie, GA/AA vs GG) had a higher disease activity, including Bath Ankylosing Spondylitis Disease Activity Index (overall: Z=− 2.630, p=0.014; male: Z=− 2.243, p=0.025), Schober test (overall: Z=− 3.041, p<0.001; male: Z=− 2.243, p=0.025) and chest expansion (overall: Z=− 3.895, p=0.004; male: Z=− 2.403, p=0.016).

Conclusion The allelic variation of rs7958311 SNP in P2X7R gene may have a protective effect on AS susceptibility in females and is associated with disease activity in male patients.

  • ankylosing spondylitis
  • AS
  • gene
  • P2X7R
  • SNP
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  • ZP and XZ are joint first authors.

  • ZP and XZ contributed equally.

  • Contributors FP and GS conceived and designed the experiments and helped with data analysis and gave constructive comments. XZ, ZP and YM performed the experiments. XZ performed the data analyses and wrote the manuscript. ZP contributed significantly to manuscript preparation. SX and ZS contributed to the conception of the study.

  • Funding This study was supported by grants from the National Natural Science Foundation of China (30771849, 30972530, 81273169, 81573218, and 81773514).

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Ethics approval This research was approved by the ethics committee of Anhui Medical University.

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

  • Author note Zhipeng Pan and Xu Zhang contributed equally to this work and should be considered co-first author.

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