Abstract
Several studies reported that autoimmune diseases share a number of susceptibility genes. Of these genes, a SNP rs7708392 in TNIP1 was reported to be associated with systemic lupus erythematosus (SLE). Autoimmune hepatitis (AIH), a rare chronic progressive liver disease, shares some clinical features with SLE. Therefore, we investigated whether the SNP is associated with Japanese AIH. An association study of rs7708392 was conducted in 343 Japanese AIH patients and 828 controls. We found that rs7708392 is associated with AIH (P = 0.0236, odds ratio (OR) 1.26, 95% confidence interval (CI): 1.03–1.54), under the allele model for C allele. Significant differences of clinical characteristics of the AIH patients with or without G allele of rs7708392 were not detected. Of interest, the association was stronger in AIH without HLA-DRB1*04:05 allele (P = 0.0063, Q = 0.0127, OR 1.48, 95% CI: 1.12–1.96), though the association was not detected in AIH with DRB1*04:05. The C allele of rs7708392 was associated with AIH, especially AIH without DRB1*04:05, an already established risk factor.
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Acknowledgements
We would like to acknowledge NHO-AIH study group. The members of the NHO-AIH study group are: Kiyoshi Migita (Department of Rheumatology, School of Medicine, Fukushima Medical University), Masashi Ohtani, Seigo Abiru, Yuka Jiuchi, Shinya Nagaoka, Sung Kwan Bae, Atsumasa Komori, Masashi Ohtani, Satoru Hashimoto, Shigemune Bekki, Katsumi Yamasaki, Hiroshi Yatsuhashi, Hiromi Ishibashi (NHO Nagasaki Medical Center), Minoru Nakamura (Department of Hepatology, Nagasaki University Graduate School of Biomedical Sciences), Michio Yasunami (Life Science Institute, Saga-ken Medical Centre Koseikan), Yukio Watanabe, Yoko Nakamura (NHO Sagamihara National Hospital), Michiyasu Yagura (NHO Tokyo National Hospital), Tatsuji Komatsu (NHO Yokohama Medical Center), Masaaki Shimada (NHO Nagoya Medical Center), Hiroshi Kouno (NHO Kure Medical Center), Taizo Hijioka (NHO Osaka Minami Medical Center), Motoyuki Kohjima (NHO Kyushu Medical Center), Michio Kato (NHO Minami Wakayama Medical Center), Kaname Yoshizawa (NHO Shinshu Ueda Medical Center), Hajime Ohta (NHO Kanazawa Medical Center), Eiichi Takezaki (NHO Higashi Hiroshima Medical Center), Hideo Nishimura (NHO Asahikawa Medical Center), Takeaki Sato (NHO Kokura Medical Center), Keisuke Ario (NHO Ureshino Medical Center), Noboru Hirashima (NHO Higashi Nagoya National Hospital), Yukio Oohara (NHO Hokkaido Medical Center), Haruhiro Yamashita (NHO Okayama Medical Center), Atsushi Naganuma (NHO Takasaki General Medical Center), Toyokichi Muro (NHO Oita Medical Center), Hironori Sakai (NHO Beppu Medical Center), Eiji Mita (NHO Osaka Medical Center), Kazuhiro Sugi (NHO Kumamoto Medical Center), Fujio Makita (NHO Nishigunma National Hospital).
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The work was supported by Grants-in-Aid for Clinical Research from National Hospital Organization. The funders had no role in study design, data collection and analysis, decision to publish, or preparing the manuscript.
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Oka, S., Higuchi, T., Furukawa, H. et al. Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese population. J Hum Genet 63, 739–744 (2018). https://doi.org/10.1038/s10038-018-0440-0
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DOI: https://doi.org/10.1038/s10038-018-0440-0
