{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:01:53Z","timestamp":1773277313299,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,3,20]],"date-time":"2013-03-20T00:00:00Z","timestamp":1363737600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Department of Higher Education"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background &amp; Aims<\/jats:title><jats:p>The Gilbert syndrome\u2010associated functional <jats:styled-content style=\"fixed-case\">TATA<\/jats:styled-content> box variant <jats:italic><jats:styled-content style=\"fixed-case\">UGT<\/jats:styled-content>1A1*28<\/jats:italic> (A(<jats:styled-content style=\"fixed-case\">TA<\/jats:styled-content>)<jats:sub>7<\/jats:sub><jats:styled-content style=\"fixed-case\">TAA<\/jats:styled-content>) was found to increase susceptibility to pigment gallstone formation in patients with haemolytic anaemia. Further studies in extensive cohorts demonstrated an increased risk of this variant for cholesterol gallstone disease (<jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>). We now investigated this polymorphism as a determinant of symptomatic <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> in Swedish twins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The Swedish Twin Registry was merged with the Hospital Discharge and Causes of Death Registries and searched for <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>\u2010related diagnoses among monozygotic (<jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>) twins living in the Stockholm area. In addition, we screened the TwinGene database for <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>. In total, we found 44 <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content> twin pairs with and eight <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content> twins without <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> to be evaluable. <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>\u2010free twins from TwinGene (109 concordantly <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content> and 126 independent <jats:styled-content style=\"fixed-case\">DZ<\/jats:styled-content>) served as controls. <jats:italic><jats:styled-content style=\"fixed-case\">UGT<\/jats:styled-content>1A1*28<\/jats:italic> genotyping was performed using TaqMan assays.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, 58 and 8 of 106 twins with <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> were hetero\u2010 and homozygous <jats:italic><jats:styled-content style=\"fixed-case\">UGT<\/jats:styled-content>1A1<\/jats:italic> risk allele carriers respectively. The case\u2013control association tests showed a significantly (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.05) increased risk of developing <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a01.62, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 1.00\u20132.63) in heterozygotes carriers and in addition, a trend (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.075) for an increased risk among carriers (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a01.52, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 0.97\u20132.44) of the risk allele.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These data from Swedish twins confirm the Gilbert variant as risk factor for <jats:styled-content style=\"fixed-case\">GD<\/jats:styled-content>. Our observation is in line with nucleation in bilirubin supersaturated bile representing an initial step in cholelithogenesis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/liv.12141","type":"journal-article","created":{"date-parts":[[2013,2,19]],"date-time":"2013-02-19T05:11:26Z","timestamp":1361250686000},"page":"904-908","source":"Crossref","is-referenced-by-count":13,"title":["Gallstone disease in Swedish twins is associated with the Gilbert variant of <i><scp>UGT<\/scp>1A1<\/i>"],"prefix":"10.1111","volume":"33","author":[{"given":"Hanns\u2010Ulrich","family":"Marschall","sequence":"first","affiliation":[{"name":"Sahlgrenska Academy Institute of Medicine Department of Molecular and Clinical Medicine University of Gothenburg Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcin","family":"Krawczyk","sequence":"additional","affiliation":[{"name":"Department of Medicine II Saarland University Medical Center Homburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Gr\u00fcnhage","sequence":"additional","affiliation":[{"name":"Department of Medicine II Saarland University Medical Center Homburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Despina","family":"Katsika","sequence":"additional","affiliation":[{"name":"Karolinska Institutet Department of Medicine Karolinska University Hospital Huddinge Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Curt","family":"Einarsson","sequence":"additional","affiliation":[{"name":"Karolinska Institutet Department of Medicine Karolinska University Hospital Huddinge Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Lammert","sequence":"additional","affiliation":[{"name":"Department of Medicine II Saarland University Medical Center Homburg 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