{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:03:17Z","timestamp":1740171797579,"version":"3.37.3"},"reference-count":46,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Disease Markers"],"published-print":{"date-parts":[[2014]]},"abstract":"Recent genome-wide association studies suggest that genetic factors contribute to primary biliary cirrhosis (PBC) susceptibility. Although several reports have demonstrated that the interleukin (IL) 12 signaling pathway is involved in PBC pathogenesis, its precise genetic factors have not been fully clarified. Here, we performed an association analysis betweenIL12A<\/jats:italic>,IL12RB<\/jats:italic>, andsignal transducer and activator of transcription 4 (STAT4)<\/jats:italic>genetic variations and susceptibility to PBC. Single nucleotide polymorphisms (SNPs) were genotyped in 395 PBC patients and 458 healthy subjects of Japanese ethnicity and evaluated for associations with PBC susceptibility, anti-nuclear antibody (ANA) status, and anti-mitochondrial antibody (AMA) status. We detected significant associations with PBC susceptibility for severalSTAT4<\/jats:italic>SNPs (rs10168266;P<\/mml:mi>=<\/mml:mo>9.4<\/mml:mn>\u00d7<\/mml:mo>10<\/mml:mn><\/mml:mrow>-<\/mml:mo>3<\/mml:mn><\/mml:mrow><\/mml:msup><\/mml:math>, rs11889341;P<\/mml:mi>=<\/mml:mo>1.2<\/mml:mn>\u00d7<\/mml:mo>10<\/mml:mn><\/mml:mrow>-<\/mml:mo>3<\/mml:mn><\/mml:mrow><\/mml:msup><\/mml:math>, rs7574865;P<\/mml:mi>=<\/mml:mo>4.0<\/mml:mn>\u00d7<\/mml:mo>10<\/mml:mn><\/mml:mrow>-<\/mml:mo>4<\/mml:mn><\/mml:mrow><\/mml:msup><\/mml:math>, rs8179673;P<\/mml:mi>=<\/mml:mo>2.0<\/mml:mn>\u00d7<\/mml:mo>10<\/mml:mn><\/mml:mrow>-<\/mml:mo>4<\/mml:mn><\/mml:mrow><\/mml:msup><\/mml:math>, and rs10181656;P<\/mml:mi>=<\/mml:mo>4.2<\/mml:mn>\u00d7<\/mml:mo>10<\/mml:mn><\/mml:mrow>-<\/mml:mo>5<\/mml:mn><\/mml:mrow><\/mml:msup><\/mml:math>). Three risk alleles (rs7574865;P<\/mml:mi>=<\/mml:mo>0.040<\/mml:mn><\/mml:math>, rs8179673;P<\/mml:mi>=<\/mml:mo>0.032<\/mml:mn><\/mml:math>, and rs10181656;P<\/mml:mi>=<\/mml:mo>0.031<\/mml:mn><\/mml:math>) were associated with ANA status, but not with AMA positivity. Our findings confirm thatSTAT4<\/jats:italic>is involved in PBC susceptibility and may play a role in ANA status in the Japanese population.<\/jats:p>","DOI":"10.1155\/2014\/727393","type":"journal-article","created":{"date-parts":[[2014,2,4]],"date-time":"2014-02-04T16:02:44Z","timestamp":1391529764000},"page":"1-8","source":"Crossref","is-referenced-by-count":14,"title":["STAT4<\/i>Gene Polymorphisms Are Associated with Susceptibility and ANA Status in Primary Biliary Cirrhosis"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6364-9654","authenticated-orcid":true,"given":"Satoru","family":"Joshita","sequence":"first","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeji","family":"Umemura","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minoru","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Clinical Research Center, NHO Nagasaki Medical Center and Department of Hepatology, Nagasaki University Graduate School of Biomedical Sciences, 2-1001-1 Kubara, Omura 856-8562, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiko","family":"Katsuyama","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soichiro","family":"Shibata","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1481-1029","authenticated-orcid":true,"given":"Takefumi","family":"Kimura","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susumu","family":"Morita","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7860-2816","authenticated-orcid":true,"given":"Michiharu","family":"Komatsu","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaname","family":"Yoshizawa","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Ishibashi","sequence":"additional","affiliation":[{"name":"Clinical Research Center, NHO Nagasaki Medical Center and Department of Hepatology, Nagasaki University Graduate School of Biomedical Sciences, 2-1001-1 Kubara, Omura 856-8562, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6400-5658","authenticated-orcid":true,"given":"Masao","family":"Ota","sequence":"additional","affiliation":[{"name":"Department of Legal Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra043898"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2004.05.005"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/S1542-3565(04)00678-0"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1276644"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/hep.24705"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1016\/j.humimm.2010.02.009"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2010.03.017"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0810440"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1038\/ng.631"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1038\/ng.627"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.789"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.010"},{"issue":"7","key":"13","doi-asserted-by":"crossref","first-page":"4342","DOI":"10.1128\/MCB.14.7.4342","volume":"14","year":"1994","journal-title":"Molecular 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