{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T21:25:43Z","timestamp":1776979543872,"version":"3.51.4"},"reference-count":55,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5814,"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":[[1999,10]]},"abstract":"<jats:sec>\n            <jats:title\/>\n            <jats:p>Genetic involvement in type 1 autoimmune hepatitis (AIH) is indicated by a marked female preponderance and strong, well-established, human leukocyte antigen (HLA) associations. These associations, however, are not universal and a number of genes outside the major histocompatibility complex may also play a role in susceptibility to type 1 AIH. Prime candidates at present are those polymorphic genes encoding the proinflammatory and immunoregulatory cytokines. The aim of this study was to investigate, for the first time, 2 members of the interleukin-1 (IL-1) family (<jats:italic toggle=\"yes\">IL-1B<\/jats:italic> and <jats:italic toggle=\"yes\">IL-1RN<\/jats:italic>), 3 polymorphic sites in the interleukin-10 (IL-10) gene promoter (positions \u22121082, \u2212819, and \u2212592), and 2 polymorphisms in the tumor necrosis factor-\u03b1 (TNF-\u03b1) promoter (positions \u2212308 and \u2212238) in type 1 AIH. The study was performed on 2 independently collected DNA banks, each with appropriate controls, and throughout the analysis associations described in the first set were confirmed in the second set. Standard polymerase chain reaction (PCR)-based genotyping techniques were used. Overall there were no significant differences in the distributions of the <jats:italic toggle=\"yes\">IL-1B<\/jats:italic> and <jats:italic toggle=\"yes\">IL-10<\/jats:italic> alleles, genotypes, or haplotypes in either study set. In contrast we report a significant association between type 1 AIH and <jats:italic toggle=\"yes\">TNF*2<\/jats:italic> (first set: 34% of controls vs. 49% of patients, <jats:italic toggle=\"yes\">Pc<\/jats:italic> = .014 and second set: 26% vs. 56%, <jats:italic toggle=\"yes\">P<\/jats:italic> = .00008). However, <jats:italic toggle=\"yes\">TNF2<\/jats:italic> is found in strong linkage disequilibrium with the HLA A1-B8-DR3 haplotype and stratification analysis indicates that the association with <jats:italic toggle=\"yes\">TNF*2<\/jats:italic> is interdependent with HLA <jats:italic toggle=\"yes\">DRB10301<\/jats:italic> This is an indication that there is more than one susceptibility allele for type 1 AIH on chromosome 6p21.3.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1002\/hep.510300412","type":"journal-article","created":{"date-parts":[[2004,7,28]],"date-time":"2004-07-28T07:29:13Z","timestamp":1090999753000},"page":"851-856","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":148,"title":["Frequency and nature of cytokine gene polymorphisms in type 1 autoimmune 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