{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T18:34:54Z","timestamp":1792089294489,"version":"4.4.0"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,1]]},"abstract":"<jats:sec>\n                  <jats:title>Background and aims:<\/jats:title>\n                  <jats:p>The first genome wide association study on coeliac disease (CD) and its follow-up have identified eight new loci that contribute significantly towards CD risk. Seven of these loci contain genes controlling adaptive immune responses, including <jats:italic>IL2\/IL21<\/jats:italic> (4q27), <jats:italic>RGS1<\/jats:italic> (1q31), <jats:italic>IL18RAP<\/jats:italic> (2q11\u20132q12), <jats:italic>CCR3<\/jats:italic> (3p21), <jats:italic>IL12A<\/jats:italic> (3q25\u20133q26), <jats:italic>TAGAP<\/jats:italic> (6q25) and <jats:italic>SH2B3<\/jats:italic> (12q24).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>We selected the nine most associated single nucleotide polymorphisms to tag the eight new loci in an Italian cohort comprising 538 CD patients and 593 healthy controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Common variation in <jats:italic>IL2\/IL21, RGS1, IL12A\/SCHIP<\/jats:italic> and <jats:italic>SH2B3<\/jats:italic> was associated with susceptibility to CD in our Italian cohort. The <jats:italic>LPP<\/jats:italic> and <jats:italic>TAGAP<\/jats:italic> regions also showed moderate association, whereas there was no association with <jats:italic>CCR3<\/jats:italic> and <jats:italic>IL18RAP<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>This is the first replication study of six of the eight new CD loci; it is also the first CD association study in a southern European cohort. Our results may imply there is a genuine population difference across Europe regarding the loci contributing to CD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.061457","type":"journal-article","created":{"date-parts":[[2008,9,19]],"date-time":"2008-09-19T20:24:42Z","timestamp":1221855882000},"page":"60-63","source":"Crossref","is-referenced-by-count":47,"title":["Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease"],"prefix":"10.1136","volume":"46","author":[{"given":"J","family":"Romanos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Barisani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Trynka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Zhernakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M T","family":"Bardella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Wijmenga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,9,19]]},"reference":[{"key":"2025100521504478000_46.1.60.1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.50.5.624"},{"key":"2025100521504478000_46.1.60.2","first-page":"687","article-title":"Contribution of the MHC region to the familial risk of coeliac disease.","volume":"36","author":"Bevan","year":"1999","journal-title":"J Med Genet"},{"key":"2025100521504478000_46.1.60.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201051"},{"key":"2025100521504478000_46.1.60.4","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1136\/gut.43.2.187","article-title":"CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.","volume":"43","author":"Djilali-Saiah","year":"1998","journal-title":"Gut"},{"key":"2025100521504478000_46.1.60.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1680"},{"key":"2025100521504478000_46.1.60.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng2058"},{"key":"2025100521504478000_46.1.60.7","doi-asserted-by":"publisher","DOI":"10.1086\/522037"},{"key":"2025100521504478000_46.1.60.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.102"},{"key":"2025100521504478000_46.1.60.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng2068"},{"key":"2025100521504478000_46.1.60.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.03.016"},{"key":"2025100521504478000_46.1.60.11","doi-asserted-by":"crossref","unstructured":"Working Group of the European Society of Paediatric Gastroenterology and Nutrition. Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child 1990;65;909\u201311.","DOI":"10.1136\/adc.65.8.909"},{"key":"2025100521504478000_46.1.60.12","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/S0198-8859(03)00027-2","article-title":"HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease.","volume":"4","author":"Karell","year":"2003","journal-title":"Hum Immunol"},{"key":"2025100521504478000_46.1.60.13","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(03)01205-8"},{"key":"2025100521504478000_46.1.60.14","doi-asserted-by":"publisher","DOI":"10.1111\/j.0001-2815.2004.00237.x"},{"key":"2025100521504478000_46.1.60.15","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.3748\/wjg.v13.i8.1156","article-title":"New aspects in celiac disease.","volume":"13","author":"Torres","year":"2007","journal-title":"World J Gastroenterol"},{"key":"2025100521504478000_46.1.60.16","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6364111"},{"key":"2025100521504478000_46.1.60.17","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201516"},{"key":"2025100521504478000_46.1.60.18","doi-asserted-by":"crossref","first-page":"3673","DOI":"10.3748\/wjg.v12.i23.3673","article-title":"NOD2: ethnic and geographic differences.","volume":"12","author":"Cavanaugh","year":"2006","journal-title":"World J Gastroenterol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.061457","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:50:53Z","timestamp":1759726253000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.061457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,19]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2009,1,5]]},"published-print":{"date-parts":[[2009,1]]}},"alternative-id":["10.1136\/jmg.2008.061457"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.061457","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,19]]}}}