title: Autophagy-related IRGM genes confer susceptibility to ankylosing spondylitis in a Chinese female population: a case-control study.
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.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Xia
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.
authors.forename: M
authors.initials: M
authors.lastname: Wang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.
authors.forename: X
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Department of Rheumatism and Immunity, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
authors.forename: S
authors.initials: S
authors.lastname: Xu
authors.affiliation: Department of Rheumatism and Immunity, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Shuai
authors.affiliation: Department of Rheumatism and Immunity, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
authors.forename: J
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Obstetrics, South Medical University Affiliated Maternal & Child Health Hospital of Foshan, Foshan, Guangdong, China.
authors.forename: D
authors.initials: D
authors.lastname: Fan
authors.affiliation: Department of Rheumatism and Immunity, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.|Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Ding
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia.
authors.forename: F
authors.initials: F
authors.lastname: Pan
mesh_terms: D000328:Adult; D001343:Autophagy / Q000235:genetics*; D015415:Biomarkers / Q000378:metabolism*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D019204:GTP-Binding Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D013167:Spondylitis, Ankylosing / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology
chemical_list: D015415:Biomarkers; D019204:GTP-Binding Proteins; C513539:IRGM protein, human