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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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