{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:24:10Z","timestamp":1740173050723,"version":"3.37.3"},"reference-count":25,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2011\/02\/A\/NZ5\/00321"],"award-info":[{"award-number":["2011\/02\/A\/NZ5\/00321"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Immunology Research"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Recent GWAS in primary biliary cholangitis (PBC) showed strong associations with SNPs located within interleukin-12 receptor (IL12R) beta-2<jats:italic>(IL12RB2)<\/jats:italic>gene.<jats:italic>Aims<\/jats:italic>. We assessed whether genetic variation of<jats:italic>IL12RB2<\/jats:italic>is associated with laboratory and clinical features of PBC.<jats:italic>Methods<\/jats:italic>. Genomic DNA was isolated from 306 patients with PBC and 258 age\/gender-matched controls. PBC-specific anti-mitochondrial antibodies (AMA) were tested in all subjects by ELISA. Two SNPs, rs3790567 and rs6679356, of<jats:italic>IL12RB2<\/jats:italic>were genotyped using the MGB-TaqMan SNP assay.<jats:italic>Results<\/jats:italic>. Despite comparable age at diagnosis of cirrhotic and noncirrhotic PBC patients, allele A of rs3790567 and allele C of rs6679356 were overrepresented in the former rather than the latter group (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>p<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">0.0009<\/mml:mn><\/mml:math>and<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi>p<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">0.002<\/mml:mn><\/mml:math>, resp.). The risk of cirrhosis at presentation increased when allele A and allele C coexisted. AMA-M2 titres were significantly higher in AA homozygotes of rs3790567 compared to GG homozygotes (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mn fontstyle=\"italic\">132<\/mml:mn><mml:mo>\u00b1<\/mml:mo><mml:mn fontstyle=\"italic\">54<\/mml:mn><\/mml:math>versus<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mn fontstyle=\"italic\">103<\/mml:mn><mml:mo>\u00b1<\/mml:mo><mml:mn fontstyle=\"italic\">62<\/mml:mn><\/mml:math>,<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M5\"><mml:mi>p<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">0.02<\/mml:mn><\/mml:math>) and in rs6679356 when C allele was present (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M6\"><mml:mi>p<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">0.038<\/mml:mn><\/mml:math>). There were no other significant associations between<jats:italic>IL12RB2<\/jats:italic>polymorphisms and laboratory or clinical features.<jats:italic>Conclusion<\/jats:italic>. In this first study analyzing phenotypic features of PBC carriers of the<jats:italic>IL12RB2<\/jats:italic>polymorphisms, we found that carriers are more frequently cirrhotic at diagnosis and have significantly higher titres of AMA.<\/jats:p>","DOI":"10.1155\/2017\/2185083","type":"journal-article","created":{"date-parts":[[2017,2,19]],"date-time":"2017-02-19T16:00:51Z","timestamp":1487520051000},"page":"1-5","source":"Crossref","is-referenced-by-count":4,"title":["Polymorphisms of IL12RB2 May Affect the Natural History of Primary Biliary Cholangitis: A Single Centre Study"],"prefix":"10.1155","volume":"2017","author":[{"given":"Urszula","family":"Wasik","sequence":"first","affiliation":[{"name":"Department of Medical Biology, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8740-5243","authenticated-orcid":true,"given":"Ewa","family":"Wunsch","sequence":"additional","affiliation":[{"name":"Translational Medicine Group, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8992-1866","authenticated-orcid":true,"given":"Gary L.","family":"Norman","sequence":"additional","affiliation":[{"name":"Inova Diagnostics, San Diego, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1978-4602","authenticated-orcid":true,"given":"Eirini I.","family":"Rigopoulou","sequence":"additional","affiliation":[{"name":"The Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitrios 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Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2064-0545","authenticated-orcid":true,"given":"Ma\u0142gorzata","family":"Milkiewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Pomeranian Medical University, Szczecin, 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