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; Roza Adany; Arpo Aromaa; Maria Teresa Bardella; Leonard H. van den Berg; Nicholas A. Bockett; Emilio G. de la Concha; Barbara Dema; Rudolf S. N. Fehrmann; Miguel Fernandez-Arquero; Szilvia Fiatal; Elvira Grandone; Peter M. Green; Harry J. M. Groen; Rhian Gwilliam; Roderick H. J. Houwen; Sarah E. Hunt; Katri Kaukinen; Dermot Kelleher; Ilma Korponay-Szabo; Kalle Kurppa; Padraic MacMathuna; Markku Maki; 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; Concepcion Nunez; 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

doi:10.1038/ng.543

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Multiple common variants for celiac disease influencing immune gene expression

Journal article

Peer reviewed

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, Roza Adany, Arpo Aromaa, …

Nature genetics, Vol.42(4), pp.295-U42

01/04/2010

DOI: https://doi.org/10.1038/ng.543

PMCID: PMC2847618

PMID: 20190752

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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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Title: Multiple common variants for celiac disease influencing immune gene expression
Creators - without role: Patrick C. A. Dubois - Queen Mary University of London
Gosia Trynka - University of Groningen
Lude Franke - Queen Mary University of London
Karen A. Hunt - Queen Mary University of London
Jihane Romanos - University of Groningen
Alessandra Curtotti - Queen Mary University of London
Alexandra Zhernakova - Utrecht University
Graham A. R. Heap - Queen Mary University of London
Roza Adany - University of Debrecen
Arpo Aromaa - National Institutes of Health
Maria Teresa Bardella - University of Milan
Leonard H. van den Berg - University Medical Center Utrecht
Nicholas A. Bockett - Queen Mary University of London
Emilio G. de la Concha - Hosp Clin San Carlos, Dept Clin Immunol, Madrid, Spain
Barbara Dema - Hosp Clin San Carlos, Dept Clin Immunol, Madrid, Spain
Rudolf S. N. Fehrmann - University of Groningen
Miguel Fernandez-Arquero - Hosp Clin San Carlos, Dept Clin Immunol, Madrid, Spain
Szilvia Fiatal - Hungarian Academy of Sciences
Elvira Grandone - Casa Sollievo della Sofferenza
Peter M. Green - Supreme Council Of Health
Harry J. M. Groen - University of Groningen
Rhian Gwilliam - Wellcome Sanger Institute
Roderick H. J. Houwen - University Medical Center Utrecht
Sarah E. Hunt - Wellcome Sanger Institute
Katri Kaukinen - Tampere University
Dermot Kelleher - Trinity College Dublin
Ilma Korponay-Szabo - University of Debrecen
Kalle Kurppa - Tampere University
Padraic MacMathuna - Mater Misericordiae University Hospital
Markku Maki - Tampere University
Maria Cristina Mazzilli - Sapienza University of Rome
Owen T. McCann - Wellcome Sanger Institute
M. Luisa Mearin - Leiden University
Charles A. Mein - Queen Mary University of London
Muddassar M. Mirza - King's College London
Vanisha Mistry - Queen Mary University of London
Barbara Mora - Sapienza University of Rome
Katherine I. Morley - Wellcome Sanger Institute
Chris J. Mulder - University of Amsterdam
Joseph A. Murray - Mayo Clinic
Concepcion Nunez - Hosp Clin San Carlos, Dept Clin Immunol, Madrid, Spain
Elvira Oosterom - University of Groningen
Roel A. Ophoff - University of California, Los Angeles
Isabel Polanco - Hosp La Paz, Dept Pediat Gastroenterol, Madrid, Spain
Leena Peltonen - University of Helsinki
Mathieu Platteel - University of Groningen
Anna Rybak - Mécanique et Engrenage Moderne
Veikko Salomaa - National Institutes of Health
Joachim J. Schweizer - Leiden University
Maria Pia Sperandeo - University of Naples Federico II
Greetje J. Tack - University of Amsterdam
Graham Turner - Trinity College Dublin
Jan H. Veldink - University Medical Center Utrecht
Wieke H. M. Verbeek - University of Amsterdam
Rinse K. Weersma - University of Groningen
Victorien M. Wolters - University Medical Center Utrecht
Elena Urcelay - Hosp Clin San Carlos, Dept Clin Immunol, Madrid, Spain
Bozena Cukrowska - Mécanique et Engrenage Moderne
Luigi Greco - University of Naples Federico II
Susan L. Neuhausen - Beckman Research Institute
Ross McManus - Trinity College Dublin
Donatella Barisani - University of Milano-Bicocca
Panos Deloukas - Wellcome Sanger Institute
Jeffrey C. Barrett - Wellcome Sanger Institute
Paivi Saavalainen - University of Helsinki
Cisca Wijmenga - University of Groningen
David A. van Heel - Queen Mary University of London
Publication Details: Nature genetics, Vol.42(4), pp.295-U42
Publisher: Springer Nature
Number of pages: 10
Grant note: 916.10.135 / NWO (ZonMW); Netherlands Organization for Scientific Research (NWO); Netherlands Organization for Health Research and Development National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) National Human Genome Research Institute (NHGRI); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) University of Helsinki Funds Adessium foundation 93519031 / Netherlands Genomics Initiative G0700545 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) 6/06/2006/NDON / UMC Cooperation OTKA 61868 / Academy of Finland; Research Council of Finland MEXT-CT-2005-025270 / EU Commission; European Commission; European Commission Joint Research Centre 918.66.620 / Netherlands Organisation for Scientific Research (NWO); Netherlands Organization for Scientific Research (NWO) Amyotrophic Lateral Sclerosis Association CP08/0213 / Science Foundation Ireland RC2009 / Italian Ministry of Healthy; Ministry of Health, Italy National Institute of Child Health and Human Development (NICHD); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) Prinses Beatrix Fonds Sigrid Juselius Foundation Foundation of Pediatric Research Juvenile Diabetes Research Foundation International (JDRF); Juvenile Diabetes Research Foundation Royal Netherlands Academy of Arts and Sciences National Institute of Allergy and Infectious Diseases (NIAID); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Allergy & Infectious Diseases (NIAID) Irish Health Research Board; Health Research Board - Ireland Department of Health via the National Institute for Health Research (NIHR); National Institutes of Health Research (NIHR) Coeliac Disease Consortium 084743; 085475 / Wellcome Trust 201379 / COPACETIC (EU); European Commission G0700545 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) Tampere University Hospital 2006TKI247 / Hungarian Academy of Sciences DK050678; DK081645; NS058980; DK57892; DK071003 / NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA BSIK03009 / Dutch Government
Identifiers: 9936843408331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article