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, R. 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 journalArticle

583 Citations (Scopus)

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 PGWAS-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

Original languageEnglish
Pages (from-to)295-302
Number of pages8
JournalNature Genetics
Volume42
Issue number4
DOIs
Publication statusPublished - Apr 2010

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Celiac Disease
Single Nucleotide Polymorphism
Gene Expression
Genome-Wide Association Study
Abdomen
Meta-Analysis
Genome
T-Lymphocytes
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Dubois, P. C. A., Trynka, G., Franke, L., Hunt, K. A., Romanos, J., Curtotti, A., ... Van Heel, D. A. (2010). Multiple common variants for celiac disease influencing immune gene expression. Nature Genetics, 42(4), 295-302. https://doi.org/10.1038/ng.543

Multiple common variants for celiac disease influencing immune gene expression. / Dubois, Patrick C A; Trynka, Gosia; Franke, Lude; Hunt, Karen A.; Romanos, Jihane; Curtotti, Alessandra; Zhernakova, Alexandra; Heap, Graham A R; Ádány, R.; Aromaa, Arpo; Bardella, Maria Teresa; Van Den Berg, Leonard H.; Bockett, Nicholas A.; De La Concha, Emilio G.; Dema, Bárbara; Fehrmann, Rudolf S N; Fernández-Arquero, Miguel; Fiatal, Szilvia; Grandone, Elvira; Green, Peter M.; Groen, Harry J M; Gwilliam, Rhian; Houwen, Roderick H J; 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.; Ñez, 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 H M; 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.

In: Nature Genetics, Vol. 42, No. 4, 04.2010, p. 295-302.

Research output: Contribution to journalArticle

Dubois, PCA, Trynka, G, Franke, L, Hunt, KA, Romanos, J, Curtotti, A, Zhernakova, A, Heap, GAR, Ádány, R, Aromaa, A, Bardella, MT, Van Den Berg, LH, Bockett, NA, De La Concha, EG, Dema, B, Fehrmann, RSN, Fernández-Arquero, M, Fiatal, S, Grandone, E, Green, PM, Groen, HJM, Gwilliam, R, Houwen, RHJ, Hunt, SE, Kaukinen, K, Kelleher, D, Korponay-Szabo, I, Kurppa, K, MacMathuna, P, Mäki, M, Mazzilli, MC, McCann, OT, Mearin, ML, Mein, CA, Mirza, MM, Mistry, V, Mora, B, Morley, KI, Mulder, CJ, Murray, JA, Ñez, C, Oosterom, E, Ophoff, RA, Polanco, I, Peltonen, L, Platteel, M, Rybak, A, Salomaa, V, Schweizer, JJ, Sperandeo, MP, Tack, GJ, Turner, G, Veldink, JH, Verbeek, WHM, Weersma, RK, Wolters, VM, Urcelay, E, Cukrowska, B, Greco, L, Neuhausen, SL, McManus, R, Barisani, D, Deloukas, P, Barrett, JC, Saavalainen, P, Wijmenga, C & Van Heel, DA 2010, 'Multiple common variants for celiac disease influencing immune gene expression', Nature Genetics, vol. 42, no. 4, pp. 295-302. https://doi.org/10.1038/ng.543
Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A et al. Multiple common variants for celiac disease influencing immune gene expression. Nature Genetics. 2010 Apr;42(4):295-302. https://doi.org/10.1038/ng.543
Dubois, Patrick C A ; Trynka, Gosia ; Franke, Lude ; Hunt, Karen A. ; Romanos, Jihane ; Curtotti, Alessandra ; Zhernakova, Alexandra ; Heap, Graham A R ; Ádány, R. ; Aromaa, Arpo ; Bardella, Maria Teresa ; Van Den Berg, Leonard H. ; Bockett, Nicholas A. ; De La Concha, Emilio G. ; Dema, Bárbara ; Fehrmann, Rudolf S N ; Fernández-Arquero, Miguel ; Fiatal, Szilvia ; Grandone, Elvira ; Green, Peter M. ; Groen, Harry J M ; Gwilliam, Rhian ; Houwen, Roderick H J ; 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. ; Ñez, 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 H M ; 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. / Multiple common variants for celiac disease influencing immune gene expression. In: Nature Genetics. 2010 ; Vol. 42, No. 4. pp. 295-302.
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