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Association between the autophagy-related gene ULK1 and ankylosing spondylitis susceptibility in the Chinese Han population: a case–control study
  1. Xu Zhang1,2,
  2. Renfang Han1,2,
  3. Mengmeng Wang1,2,
  4. Xiaona Li1,2,
  5. Xiao Yang1,2,
  6. Qing Xia1,2,
  7. Rui Liu1,2,
  8. Yaping Yuan1,2,
  9. Xingxing Hu1,2,
  10. Mengya Chen1,2,
  11. Guangming Jiang1,2,
  12. Yubo Ma1,2,
  13. Jiajia Yang1,2,
  14. Shengqian Xu3,
  15. Jianhua Xu3,
  16. Zongwen Shuai3,
  17. Faming Pan1,2
  1. 1 Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China
  2. 2 The Key Laboratory of Major Autoimmune Diseases, Anhui, China
  3. 3 Department of Rheumatism and Immunity, First Affiliated Hospital of Anhui Medical University, Anhui, China
  1. Correspondence to Dr Faming Pan, Department of Epidemiology & Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China; famingpan{at}


Purpose Ankylosing spondylitis (AS), inflammatory bowel disease and Crohn’s disease (CD) often coexist in the same patient and these diseases have remarkably strong overlaps in genetic association. The association between Unc51like kinase 1 (ULK1) gene polymorphisms and CD has been reported, and the aim of the current study was to investigate whether ULK1 polymorphisms are also associated with susceptibility to AS in the Chinese Han population.

Methods Five tagging single nucleotide polymorphisms in the ULK1 gene (rs9652059, rs11616018, rs12303764, rs4964879 and rs7300908) were genotyped by the improved multiplex ligase detection reaction method in a cohort of patients with AS (n=649) and controls (n=628). Various genetic models were performed and haplotypes were constructed after linkage disequilibrium analysis.

Results A statistically significant difference was found in the dominant model of the rs9652059 polymorphism (OR (95% CI) = 0.796 (0.638 to 0.994), χ2 = 4.064, p= 0.044). Haplotypes were conducted between rs9652059 and rs11616018, rs11616018 and rs4964879, rs9652059 and rs4964879 based on D' ≥0.9 and r2 ≥ 0.6. Ht5 (rs9652059C-rs4964879G) haplotype was associated with AS (OR (95% CI) = 0.834 (0.706 to 0.985), χ2=4.555, p= 0.0328) and other two haplotypes were marginally correlated with AS (ht2 (rs9652059C-rs11616018T): OR (95% CI) = 0.846 (0.717 to 1.000), χ2= 3.864, p= 0.0493); ht3 (rs9652059T-rs11616018T): OR (95% CI) = 1.440 (0.999 to 2.076), χ2 = 3.849, p = 0.0498).

Conclusions Our findings suggest that rs9652059 variation (C→T) could increase AS susceptibility and haplotypes of rs9652059C-rs4964879G, rs9652059C-rs11616018T and rs9652059T-rs11616018T may be associatd with AS.

  • Ankylosing spondylitis
  • Unc-51-like kinase 1
  • ULK1
  • Autophagy
  • Polymorphism

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  • XZ and RH contributed equally.

  • Contributors FP conceived and designed the experiments and helped perform the analysis with constructive discussions. XZ, RH, MW, XL, XY, QX, RL, YY, XH, MC, GJ, YM and JY performed the experiments. XZ performed the data analyses and wrote the manuscript and RH contributed significantly to manuscript preparation. SX, JX and ZS contributed to the conception of the study.

  • Funding This study was funded by grants from National Natural Science Foundation of China (grant numbers: 30771849,30972530, 81273169 and 81573218).

  • Competing interests None declared.

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

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

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