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


Xia, Q and Wang, M and Yang, X and Li, X and Zhang, X and Xu, S and Shuai, Z and Xu, J and Fan, D and Ding, C and Pan, F, Autophagy-related IRGM genes confer susceptibility to ankylosing spondylitis in a Chinese female population: a case-control study, Genes and Immunity, 18, (1) pp. 42-47. ISSN 1466-4879 (2017) [Refereed Article]

Copyright Statement

Copyright 2017 Macmillan Publishers Limited

DOI: doi:10.1038/gene.2016.48


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.

Item Details

Item Type:Refereed Article
Keywords:Autophagy, IRGM, ankylosing spondylitis, China, inflammatory bowel disease, Chinese Han
Research Division:Biomedical and Clinical Sciences
Research Group:Clinical sciences
Research Field:Rheumatology and arthritis
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Ding, C (Professor Chang-Hai Ding)
UTAS Author:Pan, F (Professor Faming Pan)
ID Code:123206
Year Published:2017
Web of Science® Times Cited:18
Deposited By:Menzies Institute for Medical Research
Deposited On:2017-12-20
Last Modified:2022-08-30

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