@article{oai:nagasaki-u.repo.nii.ac.jp:00006867, author = {Migita, Kiyoshi and Nakamura, Minoru and Abiru, Seigo and Jiuchi, Yuka and Nagaoka, Shinya and Komori, Atsumasa and Hashimoto, Satoru and Bekki, Shigemune and Yamasaki, Kazumi and Komatsu, Tatsuji and Shimada, Masaaki and Kouno, Hiroshi and Hijioka, Taizo and Kohjima, Motoyuki and Nakamuta, Makoto and Kato, Michio and Yoshizawa, Kaname and Ohta, Hajime and Nakamura, Yoko and Takezaki, Eiichi and Nishimura, Hideo and Sato, Takeaki and Ario, Keisuke and Hirashima, Noboru and Oohara, Yukio and Naganuma, Atsushi and Muro, Toyokichi and Sakai, Hironori and Mita, Eiji and Sugi, Kazuhiro and Yamashita, Haruhiro and Makita, Fujio and Yatsuhashi, Hiroshi and Ishibashi, Hiromi and Yasunami, Michio}, issue = {8}, journal = {PLoS ONE}, month = {Aug}, note = {Background/Aims:Recent studies demonstrated an association of STAT4 polymorphisms with autoimmune diseases including systemic lupus erythematosus and rheumatoid arthritis, indicating multiple autoimmune diseases share common susceptibility genes. We therefore investigated the influence of STAT4 polymorphisms on the susceptibility and phenotype of type-1 autoimmune hepatitis in a Japanese National Hospital Organization (NHO) AIH multicenter cohort study.Methodology/Principal Findings:Genomic DNA from 460 individuals of Japanese origin including 230 patients with type-1 autoimmune hepatitis and 230 healthy controls was analyzed for two single nucleotide polymorphisms in the STAT4 gene (rs7574865, rs7582694). The STAT4 rs7574865T allele conferred risk for type-1 autoimmune hepatitis (OR = 1.61, 95% CI = 1.23-2.11; P = 0.001), and patients without accompanying autoimmune diseases exhibited an association with the rs7574865T allele (OR = 1.50, 95%CI = 1.13-1.99; P = 0.005). Detailed genotype-phenotype analysis of type-1 autoimmune hepatitis patients with (n = 44) or without liver cirrhosis (n = 186) demonstrated that rs7574865 was not associated with the development of liver cirrhosis and phenotype (biochemical data and the presence of auto-antibodies).Conclusions/Significance:This is the first study to show a positive association between a STAT4 polymorphism and type-1 autoimmune hepatitis, suggesting that autoimmune hepatitis shares a gene commonly associated with risk for other autoimmune diseases., PLoS ONE, 8(8), e71382; 2013}, title = {Association of STAT4 Polymorphisms with Susceptibility to Type-1 Autoimmune Hepatitis in the Japanese Population}, volume = {8}, year = {2013} }