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Association of ETS1 polymorphism with granulomatosis with polyangiitis and proteinase 3-anti-neutrophil cytoplasmic antibody positive vasculitis in a Japanese population

Authors
  • Kawasaki, Aya1, 2
  • Yamashita, Keita1, 2
  • Hirano, Fumio3, 4, 5
  • Sada, Ken-ei6
  • Tsukui, Daisuke7
  • Kondo, Yuya8
  • Kimura, Yoshitaka7
  • Asako, Kurumi7
  • Kobayashi, Shigeto9
  • Yamada, Hidehiro10
  • Furukawa, Hiroshi1, 2, 11
  • Nagasaka, Kenji12
  • Sugihara, Takahiko13
  • Yamagata, Kunihiro14
  • Sumida, Takayuki8
  • Tohma, Shigeto11
  • Kono, Hajime7
  • Ozaki, Shoichi10
  • Matsuo, Seiichi15
  • Hashimoto, Hiroshi16
  • And 4 more
  • 1 University of Tsukuba, Molecular and Genetic Epidemiology, Faculty of Medicine, Tsukuba, Japan , Tsukuba (Japan)
  • 2 University of Tsukuba, Doctoral Program in Biomedical Sciences, Graduate School of Comprehensive Human Sciences, Tsukuba, Japan , Tsukuba (Japan)
  • 3 Tokyo Medical and Dental University (TMDU), Department of Pharmacovigilance, Graduate School of Medical and Dental Sciences, Tokyo, Japan , Tokyo (Japan)
  • 4 Tokyo Medical and Dental University (TMDU), Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo, Japan , Tokyo (Japan)
  • 5 Tokyo Medical and Dental University (TMDU), Department of Lifetime Clinical Immunology, Graduate School of Medical and Dental Sciences, Tokyo, Japan , Tokyo (Japan)
  • 6 Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama, Japan , Okayama (Japan)
  • 7 Teikyo University School of Medicine, Department of Internal Medicine, Tokyo, Japan , Tokyo (Japan)
  • 8 University of Tsukuba, Department of Internal Medicine, Faculty of Medicine, Tsukuba, Japan , Tsukuba (Japan)
  • 9 Juntendo University Koshigaya Hospital, Department of Internal Medicine, Koshigaya, Japan , Koshigaya (Japan)
  • 10 St. Marianna University School of Medicine, Department of Internal Medicine, Kawasaki, Japan , Kawasaki (Japan)
  • 11 National Hospital Organization, Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, Sagamihara, Japan , Sagamihara (Japan)
  • 12 Ome Municipal General Hospital, Department of Rheumatology, Ome, Japan , Ome (Japan)
  • 13 Tokyo Metropolitan Geriatric Hospital, Department of Medicine and Rheumatology, Tokyo, Japan , Tokyo (Japan)
  • 14 University of Tsukuba, Department of Nephrology, Faculty of Medicine, Tsukuba, Japan , Tsukuba (Japan)
  • 15 Nagoya University Graduate School of Medicine, Department of Nephrology, Nagoya, Japan , Nagoya (Japan)
  • 16 Juntendo University School of Medicine, Tokyo, Japan , Tokyo (Japan)
  • 17 Okayama University Hospital, Okayama, Japan , Okayama (Japan)
  • 18 Kyorin University School of Medicine, Department of Nephrology and Rheumatology, Tokyo, Japan , Tokyo (Japan)
  • 19 Tokyo Women’s Medical University, Division of Epidemiology and Pharmacoepidemiology of Rheumatic Diseases, Institute of Rheumatology, Tokyo, Japan , Tokyo (Japan)
Type
Published Article
Journal
Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Oct 05, 2017
Volume
63
Issue
1
Pages
55–62
Identifiers
DOI: 10.1038/s10038-017-0362-2
Source
Springer Nature
License
Yellow

Abstract

ETS proto-oncogene 1, transcription factor (ETS1) is involved in various immune responses. Genome-wide association studies on systemic lupus erythematosus in Chinese populations identified the association of ETS1 polymorphism in 3′ untranslated region, rs1128334A, which was associated with lower ETS1 expression. In view of substantial sharing of susceptibility genes across multiple autoimmune diseases, we examined whether ETS1 is associated with a rare autoimmune rheumatic disease, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Association of rs1128334 was tested in 466 Japanese patients with AAV and 1099 healthy controls by logistic regression analysis under the additive model. AAV patients were classified into 285 microscopic polyangiitis (MPA), 92 granulomatosis with polyangiitis (GPA), 56 eosinophilic GPA, and 33 unclassifiable AAV, according to the European Medicines Agency (EMEA) algorithm. Among the patients, 376 were positive for MPO–ANCA and 62 for PR3–ANCA. When the patients were classified according to the EMEA classification, rs1128334A allele was significantly increased in GPA (P = 0.0060, Pc = 0.030, odds ratio (OR), 1.54; 95% confidence interval (CI), 1.13–2.10). With respect to the ANCA specificity, significant association was observed in PR3–ANCA positive AAV (P = 0.0042, Pc = 0.021, OR, 1.72; 95% CI, 1.19–2.49). In conclusion, ETS1 polymorphism was suggested to be associated with GPA and PR3–ANCA positive AAV in a Japanese population.

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