Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1

作者：Higuchi Takashi; Oka Shomi; 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; Ohira Hiromasa; Tsuchiya Naoyuki; Migita Kiyoshi

来源：Journal of Human Genetics, 2017, 62(4): 481-484.

DOI：10.1038/jhg.2016.155

Autoimmune hepatitis (AIH) is an uncommon chronic autoimmune liver disease. Several studies reported the association of polymorphisms between CD28, CTLA4 and ICOS gene cluster in 2q33.2 with autoimmune or inflammatory diseases. The previous genome-wide association study on type 1 AIH in a European population has reported a risk G allele of a single nucleotide polymorphism (SNP), rs4325730, in this region. Here, we conducted an association study of this SNP with type 1 AIH in a Japanese population, as a replication study. An association study of rs4325730 was conducted in 343 Japanese AIH patients and 315 controls. We found that rs4325730 is associated with AIH (P=0.0173, odds ratio (OR) 1.30, 95% confidence interval (CI) 1.05-1.62, under the allele model for G allele, P=0.0070, OR 1.62, 95% CI 1.14-2.31, under the dominant model for G allele). This SNP was strongly associated with definite AIH (P=0.0134, OR 1.36, 95% CI 1.07-1.74; under allele model for G, P=0.0035, OR 1.85, 95% CI 1.22-2.81, under dominant model for G). This is the first replication association study of rs4325730 upstream of ICOS with AIH in the Japanese population and rs4325730G is a risk allele.

• 出版日期2017-4