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.
| Original language | English |
|---|---|
| Pages (from-to) | 1-8 |
| Number of pages | 8 |
| Journal | Journal of Human Genetics |
| DOIs | |
| Publication status | Accepted/In press - Oct 5 2017 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Association of ETS1 polymorphism with granulomatosis with polyangiitis and proteinase 3-anti-neutrophil cytoplasmic antibody positive vasculitis in a Japanese population. / Kawasaki, Aya; Yamashita, Keita; Hirano, Fumio; Sada, Kenei; Tsukui, Daisuke; Kondo, Yuya; Kimura, Yoshitaka; Asako, Kurumi; Kobayashi, Shigeto; Yamada, Hidehiro; Furukawa, Hiroshi; Nagasaka, Kenji; Sugihara, Takahiko; Yamagata, Kunihiro; Sumida, Takayuki; Tohma, Shigeto; Kono, Hajime; Ozaki, Shoichi; Matsuo, Seiichi; Hashimoto, Hiroshi; Makino, Hirofumi; Arimura, Yoshihiro; Harigai, Masayoshi; Tsuchiya, Naoyuki.
In: Journal of Human Genetics, 05.10.2017, p. 1-8.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Association of ETS1 polymorphism with granulomatosis with polyangiitis and proteinase 3-anti-neutrophil cytoplasmic antibody positive vasculitis in a Japanese population
AU - Kawasaki, Aya
AU - Yamashita, Keita
AU - Hirano, Fumio
AU - Sada, Kenei
AU - Tsukui, Daisuke
AU - Kondo, Yuya
AU - Kimura, Yoshitaka
AU - Asako, Kurumi
AU - Kobayashi, Shigeto
AU - Yamada, Hidehiro
AU - Furukawa, Hiroshi
AU - Nagasaka, Kenji
AU - Sugihara, Takahiko
AU - Yamagata, Kunihiro
AU - Sumida, Takayuki
AU - Tohma, Shigeto
AU - Kono, Hajime
AU - Ozaki, Shoichi
AU - Matsuo, Seiichi
AU - Hashimoto, Hiroshi
AU - Makino, Hirofumi
AU - Arimura, Yoshihiro
AU - Harigai, Masayoshi
AU - Tsuchiya, Naoyuki
PY - 2017/10/5
Y1 - 2017/10/5
N2 - 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.
AB - 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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U2 - 10.1038/s10038-017-0362-2
DO - 10.1038/s10038-017-0362-2
M3 - Article
SP - 1
EP - 8
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
ER -