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Multiple common variants for celiac disease influencing immune gene expression
- Dubois, Patrick CA;
- Trynka, Gosia;
- Franke, Lude;
- Hunt, Karen A;
- Romanos, Jihane;
- Curtotti, Alessandra;
- Zhernakova, Alexandra;
- Heap, Graham AR;
- Ádány, Róza;
- Aromaa, Arpo;
- Bardella, Maria Teresa;
- van den Berg, Leonard H;
- Bockett, Nicholas A;
- de la Concha, Emilio G;
- Dema, Bárbara;
- Fehrmann, Rudolf SN;
- Fernández-Arquero, Miguel;
- Fiatal, Szilvia;
- Grandone, Elvira;
- Green, Peter M;
- Groen, Harry JM;
- Gwilliam, Rhian;
- Houwen, Roderick HJ;
- Hunt, Sarah E;
- Kaukinen, Katri;
- Kelleher, Dermot;
- Korponay-Szabo, Ilma;
- Kurppa, Kalle;
- MacMathuna, Padraic;
- Mäki, Markku;
- Mazzilli, Maria Cristina;
- McCann, Owen T;
- Mearin, M Luisa;
- Mein, Charles A;
- Mirza, Muddassar M;
- Mistry, Vanisha;
- Mora, Barbara;
- Morley, Katherine I;
- Mulder, Chris J;
- Murray, Joseph A;
- Núñez, Concepción;
- Oosterom, Elvira;
- Ophoff, Roel A;
- Polanco, Isabel;
- Peltonen, Leena;
- Platteel, Mathieu;
- Rybak, Anna;
- Salomaa, Veikko;
- Schweizer, Joachim J;
- Sperandeo, Maria Pia;
- Tack, Greetje J;
- Turner, Graham;
- Veldink, Jan H;
- Verbeek, Wieke HM;
- Weersma, Rinse K;
- Wolters, Victorien M;
- Urcelay, Elena;
- Cukrowska, Bozena;
- Greco, Luigi;
- Neuhausen, Susan L;
- McManus, Ross;
- Barisani, Donatella;
- Deloukas, Panos;
- Barrett, Jeffrey C;
- Saavalainen, Paivi;
- Wijmenga, Cisca;
- van Heel, David A
- et al.
Published Web Location
https://doi.org/10.1038/ng.543Abstract
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 P(GWAS) < 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 x 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.
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