{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T04:03:12Z","timestamp":1768622592458,"version":"3.49.0"},"reference-count":47,"publisher":"Wiley","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gastroenterology Research and Practice"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>Primary biliary cirrhosis (PBC) is a chronic cholestatic liver condition characterized by the immune-mediated damage of the intrahepatic bile ducts. Polymorphisms of vitamin D receptor (VDR) are considered to contribute to its pathogenesis however their incidence varies in different populations and their potential association with the course of the disease has not been studied. In this paper we investigated the incidence and correlation of three VDR polymorphisms (<jats:italic>BsmI<\/jats:italic>,<jats:italic>ApaI<\/jats:italic>or<jats:italic>TaqI<\/jats:italic>) with various clinical, biochemical, and serological factors in a homogenous group of 143 Caucasian patients with PBC. Control group comprises 306 DNA samples from umbilical cord blood of healthy newborn children. When compared to controls, we observed a significant dominance of the<jats:italic>b<\/jats:italic>allele in the<jats:italic>BsmI<\/jats:italic>(<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mtext>OR\u2009=\u20091.69<\/mml:mtext><\/mml:mrow><\/mml:math>[1.27\u20132.24];<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.0003<\/mml:mn><\/mml:mrow><\/mml:math>) and<jats:italic>t<\/jats:italic>allele in the<jats:italic>TaqI<\/jats:italic>(<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mtext>OR\u2009=\u20090<\/mml:mtext><mml:mtext>.62<\/mml:mtext><\/mml:mrow><\/mml:math>[0.47\u20130.82],<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.0001<\/mml:mn><\/mml:mrow><\/mml:math>) in patients with PBC. Moreover the<jats:italic>BsmI<\/jats:italic>and<jats:italic>TaqI<\/jats:italic>polymorphisms were associated with the presence of advanced fibrosis\/liver cirrhosis at the diagnosis of PBC. Pairwise linkage disequilibrium (LD) calculations proved that the analyzed SNPs are within an LD block (100% of LDs were<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mi>D<\/mml:mi><mml:mo>\u2019<\/mml:mo><mml:mo>&gt;<\/mml:mo><mml:mn>0.9<\/mml:mn><\/mml:mrow><\/mml:math>). Our study showed, for the first time, that the analyzed polymorphisms of VRD may exert an effect on a natural history of PBC.<\/jats:p>","DOI":"10.1155\/2012\/408723","type":"journal-article","created":{"date-parts":[[2012,6,5]],"date-time":"2012-06-05T15:18:52Z","timestamp":1338909532000},"page":"1-8","source":"Crossref","is-referenced-by-count":16,"title":["Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population"],"prefix":"10.1155","volume":"2012","author":[{"given":"Agnieszka","family":"Kempi\u0144ska-Podhorecka","sequence":"first","affiliation":[{"name":"Medical Biology Laboratory, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Wunsch","sequence":"additional","affiliation":[{"name":"Liver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Jarowicz","sequence":"additional","affiliation":[{"name":"Liver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Raszeja-Wyszomirska","sequence":"additional","affiliation":[{"name":"Liver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Loniewska","sequence":"additional","affiliation":[{"name":"Department of Neonatal Diseases, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariusz","family":"Kaczmarczyk","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Milkiewicz","sequence":"additional","affiliation":[{"name":"Medical Biology Laboratory, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Milkiewicz","sequence":"additional","affiliation":[{"name":"Liver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)05419-6"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra043898"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(03)00192-2"},{"issue":"10","key":"4","doi-asserted-by":"crossref","first-page":"3525","DOI":"10.4049\/jimmunol.138.10.3525","volume":"138","year":"1987","journal-title":"Journal of 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