Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese population

作者：Oka Shomi; Higuchi Takashi; Furukawa Hiroshi; Nakamura Minoru; Komori Atsumasa; Abiru Seigo; Nagaoka Shinya; Hashimoto Satoru; Naganuma Atsushi; Naeshiro Noriaki; Yoshizawa Kaname; Shimada Masaaki; Nishimura Hideo; Tomizawa Minoru; Kikuchi Masahiro; Makita Fujio; Yamashita Haruhiro; Ario Keisuke; Yatsuhashi Hiroshi; Tohma Shigeto; Kawasaki Aya; Tsuchiya Naoyuki; Migita Kiyoshi

来源：Journal of Human Genetics, 2018, 63(6): 739-744.

DOI：10.1038/s10038-018-0440-0

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.

• 出版日期2018-6