{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:13:41Z","timestamp":1787505221113,"version":"build-2736575974"},"reference-count":32,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4201,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC) are characterized by a cholestatic pattern of liver damage, also observed in hereditary or acquired dysfunction of the canalicular membrane transporters bile salt export pump (BSEP,\n                      <jats:italic toggle=\"yes\">ABCB11<\/jats:italic>\n                      ) and multidrug resistance protein type 3 (MDR3,\n                      <jats:italic toggle=\"yes\">ABCB4<\/jats:italic>\n                      ). Controversy exists whether a genetically determined dysfunction of BSEP and MDR3 plays a pathogenic role in PBC and PSC. Therefore, 149 healthy Caucasian control individuals (control group) were compared to 76 PBC and 46 PSC patients with respect to genetic variations in\n                      <jats:italic toggle=\"yes\">BSEP<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MDR3<\/jats:italic>\n                      . Sequencing spanned \u02dc10,000 bp including promoter and coding regions as well as 50-350 bp of flanking intronic regions. In all, 46 and 45 variants were identified in\n                      <jats:italic toggle=\"yes\">BSEP<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MDR3<\/jats:italic>\n                      , respectively. No differences between the groups were detected either in the total number of variants (\n                      <jats:italic toggle=\"yes\">BSEP<\/jats:italic>\n                      : control group: 37, PBC: 37, PSC: 31; and\n                      <jats:italic toggle=\"yes\">MDR3<\/jats:italic>\n                      : control group: 35; PBC: 32, PSC: 30), or in the allele frequency of the common variable sites. Furthermore, there were no significant differences in haplotype distribution and linkage disequilibrium. In conclusion, this study provides an analysis of\n                      <jats:italic toggle=\"yes\">BSEP<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MDR3<\/jats:italic>\n                      variant segregation and haplotype structure in a Caucasian population. Although an impact of rare variants on BSEP and MDR3 function cannot be ruled out, our data do not support a strong role of\n                      <jats:italic toggle=\"yes\">BSEP<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MDR3<\/jats:italic>\n                      genetic variations in the pathogenesis of PBC and PSC. (Hepatology 2004;39:779-791.)\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/hep.20159","type":"journal-article","created":{"date-parts":[[2004,3,1]],"date-time":"2004-03-01T03:02:00Z","timestamp":1078110120000},"page":"779-791","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":164,"title":["BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis"],"prefix":"10.1097","volume":"39","author":[{"given":"Christiane","family":"Pauli-Magnus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhold","family":"Kerb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Fattinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Anwald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerd A.","family":"Kullak-Ublick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Beuers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter 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