Multiple common variants for celiac disease influencing immune gene expression

Patrick C.A. Dubois, Gosia Trynka, Lude Franke, Karen A. Hunt, Jihane Romanos, Alessandra Curtotti, Alexandra Zhernakova, Graham A.R. Heap, Róza Ádány, Arpo Aromaa, Maria Teresa Bardella, Leonard H. Van Den Berg, Nicholas A. Bockett, Emilio G. De La Concha, Bárbara Dema, Rudolf S.N. Fehrmann, Miguel Fernández-Arquero, Szilvia Fiatal, Elvira Grandone, Peter M. GreenHarry J.M. Groen, Rhian Gwilliam, Roderick H.J. Houwen, Sarah E. Hunt, Katri Kaukinen, Dermot Kelleher, Ilma Korponay-Szabo, Kalle Kurppa, Padraic MacMathuna, Markku Mäki, Maria Cristina Mazzilli, Owen T. McCann, M. Luisa Mearin, Charles A. Mein, Muddassar M. Mirza, Vanisha Mistry, Barbara Mora, Katherine I. Morley, Chris J. Mulder, Joseph A. Murray, Concepción Ñez, Elvira Oosterom, Roel A. Ophoff, Isabel Polanco, Leena Peltonen, Mathieu Platteel, Anna Rybak, Veikko Salomaa, Joachim J. Schweizer, Maria Pia Sperandeo, Greetje J. Tack, Graham Turner, Jan H. Veldink, Wieke H.M. Verbeek, Rinse K. Weersma, Victorien M. Wolters, Elena Urcelay, Bozena Cukrowska, Luigi Greco, Susan L. Neuhausen, Ross McManus, Donatella Barisani, Panos Deloukas, Jeffrey C. Barrett, Paivi Saavalainen, Cisca Wijmenga, David A. Van Heel

Research output: Contribution to journalArticlepeer-review

648 Scopus citations


We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with PGWAS<10-4 and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P combined 5 × 10 -8); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P<0.0028, FDR 5%) with cis gene expression.

Original languageEnglish (US)
Pages (from-to)295-302
Number of pages8
JournalNature Genetics
Issue number4
StatePublished - Apr 2010

ASJC Scopus subject areas

  • Genetics


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