{"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":1792089294476,"version":"4.4.0"},"reference-count":16,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,3,7]]},"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:sec>\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>Recent genome wide association studies (GWAS) on coeliac disease (CD) have identified risk loci harbouring genes that fit the accepted pathogenic model and are considered aetiological candidates.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Using Taqman single nucleotide polymorphism (SNP) and expression assays, the study genotyped 11 SNPs tagging eight GWAS regions (1q31, 2q11\u20132q12, 3p21, 3q25\u20133q26, 3q28, 4q27, 6q25 and 12q24) in a Spanish cohort of 1094 CD patients and 540 controls, and performed expression analyses of candidate genes (<jats:italic>RGS1<\/jats:italic>, <jats:italic>IL18R1\/IL18RAP<\/jats:italic>, <jats:italic>CCR3<\/jats:italic>, <jats:italic>IL12A\/SCHIP1<\/jats:italic>, <jats:italic>LPP<\/jats:italic>, <jats:italic>IL2\/IL21-KIAA1109<\/jats:italic>, <jats:italic>TAGAP<\/jats:italic>, and <jats:italic>SH2B3<\/jats:italic>) in intestinal mucosa from 29 CD children and eight controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Polymorphisms in 1q31, 2q11\u20132q12, and 3q25 showed association in our cohort, and also 3q28 and 4q27 when combined with a previous study. Expression levels of <jats:italic>IL12A, IL18RAP<\/jats:italic>, <jats:italic>IL21, KIAA1109, LPP, SCHIP1<\/jats:italic>, and <jats:italic>SH2B3<\/jats:italic> were affected by disease status, but the correlation between genotype and mRNA levels was observed only in <jats:italic>IL12A, LPP, SCHIP1<\/jats:italic>, and <jats:italic>SH2B3<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Expression differences between treated CD patients and controls along with SNP expression associations suggest a possible primary role for these four genes and their variants in pathogenesis. The lack of SNP effect in the remaining genes is probably a consequence of arbitrary candidate gene selection within association signals that are not based on functional studies.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2011.089714","type":"journal-article","created":{"date-parts":[[2011,4,14]],"date-time":"2011-04-14T00:22:43Z","timestamp":1302740563000},"page":"493-496","source":"Crossref","is-referenced-by-count":48,"title":["Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes"],"prefix":"10.1136","volume":"48","author":[{"given":"Leticia","family":"Plaza-Izurieta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ainara","family":"Castellanos-Rubio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I\u00f1aki","family":"Irastorza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"Fern\u00e1ndez-Jimenez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galder","family":"Gutierrez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CEGEC","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Ramon","family":"Bilbao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,4,13]]},"reference":[{"key":"2025101714013924000_48.7.493.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra071600"},{"key":"2025101714013924000_48.7.493.2","doi-asserted-by":"publisher","DOI":"10.1038\/nri2670"},{"key":"2025101714013924000_48.7.493.3","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2005.083964"},{"key":"2025101714013924000_48.7.493.4","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.bpg.2005.01.001","article-title":"Genetics in coeliac disease","volume":"19","author":"van Heel","year":"2006","journal-title":"Best Pract Res Clin Gastroenterol"},{"key":"2025101714013924000_48.7.493.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2009.04.001"},{"key":"2025101714013924000_48.7.493.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng2058"},{"key":"2025101714013924000_48.7.493.7","doi-asserted-by":"publisher","DOI":"10.1086\/522037"},{"key":"2025101714013924000_48.7.493.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.102"},{"key":"2025101714013924000_48.7.493.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng2068"},{"key":"2025101714013924000_48.7.493.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.03.016"},{"key":"2025101714013924000_48.7.493.11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.543"},{"key":"2025101714013924000_48.7.493.12","doi-asserted-by":"publisher","DOI":"10.1007\/s00251-004-0724-8"},{"key":"2025101714013924000_48.7.493.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061457"},{"key":"2025101714013924000_48.7.493.14","doi-asserted-by":"publisher","DOI":"10.1080\/08916930802350789"},{"key":"2025101714013924000_48.7.493.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.004"},{"key":"2025101714013924000_48.7.493.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2010.09.003"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2011.089714","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:01:50Z","timestamp":1760734910000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2011.089714"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,13]]},"references-count":16,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2011,6,22]]},"published-print":{"date-parts":[[2011,7]]}},"alternative-id":["10.1136\/jmg.2011.089714"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2011.089714","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,13]]}}}