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Multiple common variants for celiac disease influencing immune gene expression.

  • Author(s): Dubois, Patrick CA;
  • Trynka, Gosia;
  • Franke, Lude;
  • Hunt, Karen A;
  • Romanos, Jihane;
  • Curtotti, Alessandra;
  • Zhernakova, Alexandra;
  • Heap, Graham AR;
  • Adány, 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.543
Abstract

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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