Original Article | Published:

Autophagy-related IRGM genes confer susceptibility to ankylosing spondylitis in a Chinese female population: a case–control study

Genes and Immunity volume 18, pages 4247 (2017) | Download Citation

Abstract

It is known that ankylosing spondylitis (AS) and inflammatory bowel disease (IBD) shared a common genetic component. The gist of current study is to assess the role of IBD-associated autophagy gene IRGM on AS susceptibility in a Chinese Han population. A total of 1270 unrelated subjects (643 AS and 627 controls) were enrolled. Two tag single-nucleotide polymorphisms (SNPs) (rs10065172 and rs4958846) were selected and were genotyped by iMLDR Assay technology. Genotypes and haplotype analysis were conducted by using SPSS 16.0 and haploview 4.2 software. Among two tag SNPs of IRGM, no correlation was observed between rs10065172 and AS susceptibility. For rs4958846, genotype and allelic frequencies were marginally discrepant between female cases and controls before, not after, Bonferroni correction (P=0.049; P=0.031). Logistic regression analysis revealed that carriers with CT+TT or CT genotype had a significantly decreased risk for developing AS among female subjects when compared with CC genotype (OR=0.514, 95% CI=0.301–0.876, P=0.014; OR=0.518, 95% CI=0.297–0.902, P=0.020, respectively). Additionally, a risk haplotype rs4958846C–rs10065172C (OR=2.093, 95% CI=1.301–3.368) and a protective haplotype rs4958846T–rs10065172C (OR=0.652, 95% CI=0.441–0.964) were also identified to be associated with female AS. IBD-associated IRGM gene is also associated with AS susceptibility in the Chinese female population, indicating that autophagy pathway may involve in AS genetic predisposition.

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Acknowledgements

The study was supported by grants from the National Natural Science Foundation of China (30972530, 81273169, 81573218 and 81571572). We thank all patients and healthy subjects who provided the DNA and information necessary for our study. We also thank Shanghai Genesky Bio-Tech Co., Ltd. (http://biotech.geneskies.com/index.html), for valuable help with the test of SNPs.

Author information

Author notes

    • Q Xia
    •  & M Wang

    These authors contributed equally to this work.

Affiliations

  1. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China

    • Q Xia
    • , M Wang
    • , X Yang
    • , X Li
    • , X Zhang
    •  & F Pan
  2. Department of Rheumatism and Immunity, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China

    • S Xu
    • , Z Shuai
    • , J Xu
    •  & C Ding
  3. Department of Obstetrics, South Medical University Affiliated Maternal & Child Health Hospital of Foshan, Foshan, Guangdong, China

    • D Fan
  4. Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia

    • C Ding
    •  & F Pan

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The authors declare no conflict of interest.

Corresponding author

Correspondence to F Pan.

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DOI

https://doi.org/10.1038/gene.2016.48

Supplementary Information accompanies this paper on Genes and Immunity website (http://www.nature.com/gene)

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