{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:57:30Z","timestamp":1762459050269},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,3,31]],"date-time":"2013-03-31T00:00:00Z","timestamp":1364688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"the Netherlands Organization for Scientific Research","award":["184021007"],"award-info":[{"award-number":["184021007"]}]},{"name":"the Innovation-Oriented Research Program on Genomics","award":["IGE01014","IGE05007"],"award-info":[{"award-number":["IGE01014","IGE05007"]}]},{"name":"the Center for Medical SystCenterems Biology"},{"name":"National Institute for Healthy Ageing","award":["IGE01014","IGE05007"],"award-info":[{"award-number":["IGE01014","IGE05007"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background &amp; Aims<\/jats:title><jats:p>Single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) in the Cytotoxic T lymphocyte antigen\u20104 gene (<jats:italic><jats:styled-content style=\"fixed-case\">CTLA<\/jats:styled-content>\u20104<\/jats:italic>) have been associated with several autoimmune diseases including autoimmune Hepatitis (<jats:styled-content style=\"fixed-case\">AIH<\/jats:styled-content>). In this chronic idiopathic inflammatory liver disease, conflicting results have been reported on the association with a <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> at position +49 in the <jats:italic><jats:styled-content style=\"fixed-case\">CTLA<\/jats:styled-content>\u20104<\/jats:italic> gene in small patient cohorts. Here, we established the role of this <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> in a sufficiently large cohort of <jats:styled-content style=\"fixed-case\">AIH<\/jats:styled-content> patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study population consisted of 672 <jats:styled-content style=\"fixed-case\">AIH<\/jats:styled-content> patients derived from academic and regional hospitals in the Netherlands and was compared with 500 controls selected from the \u2018Genome of the Netherlands\u2019 project cohort. Genotype frequencies were assessed by <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> for patients and by whole genome sequencing for controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No significant differences in allele frequencies were found between patients and controls (G Allele: 40% vs 39%, <jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0.7). Similarly, no significant differences in genotype frequencies between patients and controls were found. Finally, there was no relation between disease activity and the G allele or <jats:styled-content style=\"fixed-case\">AG<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">GG<\/jats:styled-content> genotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The Cytotoxic T Lymphocyte Antigen\u20104 +49 A\/G polymorphism does not represent a major susceptibility risk allele for <jats:styled-content style=\"fixed-case\">AIH<\/jats:styled-content> in Caucasians and is not associated with disease severity at presentation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/liv.12157","type":"journal-article","created":{"date-parts":[[2013,3,8]],"date-time":"2013-03-08T04:08:39Z","timestamp":1362715719000},"page":"1039-1043","source":"Crossref","is-referenced-by-count":14,"title":["Cytotoxic T Lymphocyte Antigen\u20134 +49A\/G polymorphism does not affect susceptibility to autoimmune hepatitis"],"prefix":"10.1111","volume":"33","author":[{"given":"Nicole M. F.","family":"van Gerven","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ynto S.","family":"de Boer","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonie","family":"Zwiers","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology VU University Medical Center Amsterdam The Netherlands"},{"name":"Department of Molecular Cell Biology and Immunology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart","family":"van Hoek","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Leiden University Medical Center Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karel J.","family":"van Erpecum","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich","family":"Beuers","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Academic Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henk R.","family":"van Buuren","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Erasmus University Medical Center Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joost P. H.","family":"Drenth","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Radboud University Nijmegen Medical Center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jannie W.","family":"den Ouden","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Haga Hospital The Hague The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert C.","family":"Verdonk","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology University Medical Center Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ger H.","family":"Koek","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology University Medical Center Maastricht Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes T.","family":"Brouwer","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Reinier de Graaf Hospital Delft The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen M. J.","family":"Guichelaar","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Medisch Spectrum Twente Enschede The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan M.","family":"Vrolijk","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Rijnstate Hospital Arnhem The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Kraal","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology and Immunology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris J. J.","family":"Mulder","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carin. M. J.","family":"van Nieuwkerk","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerd","family":"Bouma","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology VU University Medical Center Amsterdam The Netherlands"},{"name":"Department of Molecular Cell Biology and Immunology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Dutch Autoimmune Hepatitis Study group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.23584"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaut.2009.08.010"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510250211"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0006-z"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6363752"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.165.11.6606"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201165"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510310110"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"3056","DOI":"10.3748\/wjg.v10.i20.3056","article-title":"Cytotoxic T lymphocyte associated antigen\u20104 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population","volume":"20","author":"Fan LY","year":"2004","journal-title":"World J Gastroenterol"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MEG.0b013e3282efa240"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1872-034X.2008.00337.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2003.07525.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-11-S12-S12"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts049"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80297-9"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1872-034X.2010.00757.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2011.10.003"}],"container-title":["Liver International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fliv.12157","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fliv.12157","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/liv.12157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T09:04:17Z","timestamp":1696237457000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/liv.12157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,31]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1111\/liv.12157"],"URL":"https:\/\/doi.org\/10.1111\/liv.12157","archive":["Portico"],"relation":{},"ISSN":["1478-3223","1478-3231"],"issn-type":[{"type":"print","value":"1478-3223"},{"type":"electronic","value":"1478-3231"}],"subject":[],"published":{"date-parts":[[2013,3,31]]}}}