Newly identified genetic risk variants for celiac disease related to the immune response

Karen A. Hunt; Alexandra Zhernakova; Graham Turner; Graham A. R. Heap; Lude Franke; Marcel Bruinenberg; Jihane Romanos; Lotte C. Dinesen; Anthony W. Ryan; Davinder Panesar; Rhian Gwilliam; Fumihiko Takeuchi; William M. McLaren; Geoffrey K. T. Holmes; Peter D. Howdle; Julian R. F. Walters; David S. Sanders; Raymond J. Playford; Gosia Trynka; Chris J. J. Mulder; M. Luisa Mearin; Wieke H. M. Verbeek; Valerie Trimble; Fiona M. Stevens; Colm O'Morain; Nicholas P. Kennedy; Dermot Kelleher; Daniel J. Pennington; David P. Strachan; Wendy L. McArdle; Charles A. Mein; Martin C. Wapenaar; Panos Deloukas; Ralph McGinnis; Ross McManus; Cisca Wijmenga; David A. van Heel

doi:10.1038/ng.102

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Newly identified genetic risk variants for celiac disease related to the immune response

Journal article

Peer reviewed

Newly identified genetic risk variants for celiac disease related to the immune response

Karen A. Hunt, Alexandra Zhernakova, Graham Turner, Graham A. R. Heap, Lude Franke, Marcel Bruinenberg, Jihane Romanos, Lotte C. Dinesen, Anthony W. Ryan, Davinder Panesar, …

Nature genetics, Vol.40(4), pp.395-402

01/04/2008

DOI: https://doi.org/10.1038/ng.102

PMID: 18311140

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide association study data (767 cases, 1,422 controls), we identified seven previously unknown risk regions (P < 5 x 10(-7)). Six regions harbor genes controlling immune responses, including CCR3, IL12A, IL18RAP, RGS1, SH2B3 (nsSNP rs3184504) and TAGAP. Whole-blood IL18RAP mRNA expression correlated with IL18RAP genotype. Type 1 diabetes and celiac disease share HLA-DQ, IL2-IL21, CCR3 and SH2B3 risk regions. Thus, this extensive genome-wide association follow-up study has identified additional celiac disease risk variants in relevant biological pathways.

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Title: Newly identified genetic risk variants for celiac disease related to the immune response
Creators - without role: Karen A. Hunt - Queen Mary University of London
Alexandra Zhernakova - University Medical Center Utrecht
Graham Turner - Trinity College Dublin
Graham A. R. Heap - Queen Mary University of London
Lude Franke - University Medical Center Utrecht
Marcel Bruinenberg - University Medical Center Groningen
Jihane Romanos - University Medical Center Groningen
Lotte C. Dinesen - University of Oxford
Anthony W. Ryan - College Station Medical Center
Davinder Panesar - Queen Mary University of London
Rhian Gwilliam - Wellcome Sanger Institute
Fumihiko Takeuchi - Wellcome Sanger Institute
William M. McLaren - Wellcome Sanger Institute
Geoffrey K. T. Holmes - Derbyshire Royal Infirm, Dept Gastroenterol, Derby DE1 2QY, England
Peter D. Howdle - St James's University Hospital
Julian R. F. Walters - Hammersmith Hospital
David S. Sanders - Royal Hallamshire Hospital
Raymond J. Playford - Queen Mary University of London
Gosia Trynka - University Medical Center Groningen
Chris J. J. Mulder - Amsterdam UMC Location VUmc
M. Luisa Mearin - Amsterdam UMC Location VUmc
Wieke H. M. Verbeek - Amsterdam UMC Location VUmc
Valerie Trimble - Trinity College Dublin
Fiona M. Stevens - Ollscoil na Gaillimhe – University of Galway
Colm O'Morain - Trinity College Dublin
Nicholas P. Kennedy - College Station Medical Center
Dermot Kelleher - Trinity College Dublin
Daniel J. Pennington - Queen Mary University of London
David P. Strachan - St George's, University of London
Wendy L. McArdle - University of Bristol
Charles A. Mein - Supreme Council Of Health
Martin C. Wapenaar - University Medical Center Groningen
Panos Deloukas - Wellcome Sanger Institute
Ralph McGinnis - Wellcome Sanger Institute
Ross McManus - Trinity College Dublin
Cisca Wijmenga - University Medical Center Utrecht
David A. van Heel - Queen Mary University of London
Publication Details: Nature genetics, Vol.40(4), pp.395-402
Publisher: Springer Nature
Number of pages: 8
Grant note: G0000934 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) G0000934 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC); European Commission 084743; 068545/Z/02; GR068094MA; 068094 / Wellcome Trust; European Commission
Identifiers: 9937680108331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article