title: Association of IRF5 polymorphism with MPO-ANCA-positive vasculitis in a Japanese population.
abstract: Interferon regulatory factor 5 (IRF5) and signal transducer and activator of transcription 4 (STAT4) are shared susceptibility genes for various autoimmune diseases. In this study, we investigated whether these genes also contribute to susceptibility to anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) in a Japanese population. A case-control study was carried out on IRF5 rs10954213 and STAT4 rs7574865 in 232 Japanese myeloperoxidase (MPO)-ANCA-positive AAV patients, including 177 microscopic polyangiitis and 710 healthy controls. IRF5 rs10954213G was significantly increased in MPO-ANCA-positive AAV (additive model, P=0.023, odds ratio=1.27, 95% confidence interval=1.03-1.57). The risk allele was previously shown to be associated with lower mRNA level of IRF5. On the other hand, significant association of STAT4 rs7574865T with AAV was not detected. These observations suggested that IRF5 may contribute to susceptibility to MPO-ANCA-positive AAV in a Japanese population.
authors.affiliation: 1] Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan [2] School of Medicine, University of Tsukuba, Tsukuba, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kawasaki
authors.forename: N
authors.initials: N
authors.lastname: Inoue
authors.forename: C
authors.initials: C
authors.lastname: Ajimi
authors.forename: K-e
authors.initials: KE
authors.lastname: Sada
authors.forename: S
authors.initials: S
authors.lastname: Kobayashi
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Furukawa
authors.forename: T
authors.initials: T
authors.lastname: Sumida
authors.forename: S
authors.initials: S
authors.lastname: Tohma
authors.forename: N
authors.initials: N
authors.lastname: Miyasaka
authors.forename: S
authors.initials: S
authors.lastname: Matsuo
authors.forename: S
authors.initials: S
authors.lastname: Ozaki
authors.forename: H
authors.initials: H
authors.lastname: Hashimoto
authors.forename: H
authors.initials: H
authors.lastname: Makino
authors.forename: M
authors.initials: M
authors.lastname: Harigai
authors.forename: N
authors.initials: N
authors.lastname: Tsuchiya
mesh_terms: D000328:Adult; D000368:Aged; D056648:Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D007564:Japan; D008297:Male; D055953:Microscopic Polyangiitis / Q000235:genetics; D008875:Middle Aged; D009195:Peroxidase / Q000235:genetics / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics
chemical_list: C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; D009195:Peroxidase