{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:35:20Z","timestamp":1775306120509,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,12,10]],"date-time":"2003-12-10T00:00:00Z","timestamp":1071014400000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:p><jats:bold>Abstract:<\/jats:bold> Porphyria cutanea tarda (PCT) is the most frequent porphyria in humans. The familial type is in contrast to the sporadic type due to an inherited defect of the uroporphyrinogen\u2010III\u2010decarboxylase (URO\u2010D) and both types need additional porphyrinogens to lead to the clinical manifestation of the disease. Various factors such as xenobiotics (i.e. polycyclic aromatic hydrocarbons), alcohol, hormones and viral liver infections (hepatitis B and C) are known to induce porphyria. Cytochrome P450 enzymes play a crucial role in the metabolism of porphyrogens and therefore might have an important influence on the pathogenesis of hepatic porphyrias. Association of CYP1A2 polymorphisms with susceptibility to both types of PCT has already been described in Danish patients. We investigated 65 Caucasian patients with PCT in comparison to a healthy control group concerning the type of PCT and the cytochrome P4501A1 polymorphisms (<jats:italic>m1<\/jats:italic>, <jats:italic>m2<\/jats:italic> and <jats:italic>m4<\/jats:italic>) using polymerase chain reaction (PCR) and a restriction fragment length polymorphism. We found an increased incidence of the <jats:italic>m4<\/jats:italic> polymorphism in the familial type of PCT (odds ratio 5.5, <jats:italic>P<\/jats:italic>\u2010value 0.01), whereas the <jats:italic>m1<\/jats:italic> and <jats:italic>m2<\/jats:italic> mutations were not significantly higher than in the healthy control group. These results suggest that familial PCT, in addition to the genetic mutations, might be provoked by a higher susceptibility to porphyrogens via the cytochrome P4501A1 <jats:italic>m4<\/jats:italic> polymorphism.<\/jats:p>","DOI":"10.1111\/j.0906-6705.2003.00095.x","type":"journal-article","created":{"date-parts":[[2004,12,23]],"date-time":"2004-12-23T11:36:33Z","timestamp":1103801793000},"page":"843-848","source":"Crossref","is-referenced-by-count":10,"title":["Cytochrome P4501A1 polymorphisms in a Caucasian population with porphyria cutanea tarda"],"prefix":"10.1111","volume":"12","author":[{"given":"K.","family":"Gardlo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Selimovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Bolsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Ruzicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Abel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Fritsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,12,10]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197808102990603"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1042\/cs0580477"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295407"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3775362"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0781.1998.tb00014.x"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(93)90022-5"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.10.669"},{"key":"e_1_2_5_9_2","first-page":"847","article-title":"Steady\u2010state 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