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tandfonline.com/action/journalInformation?journalCode=kaup20 Autophagy ISSN: 1554-8627 (Print) 1554-8635 (Online) Journal homepage: https://www.tandfonline.com/loi/kaup20 Genetic association and functional role of Crohn disease risk alleles involved in microbial sensing, autophagy, and endoplasmic reticulum (ER) stress Eveline Hoefkens, Kris Nys, Jestinah M John, Kristel Van Steen, Ingrid Arijs, Jan Van der Goten, Gert Van Assche, Patrizia Agostinis, Paul Rutgeerts, Séverine Vermeire &

Isabelle Cleynen To cite this article: Eveline Hoefkens, Kris Nys, Jestinah M John, Kristel Van Steen, Ingrid Arijs, Jan Van der Goten, Gert Van Assche, Patrizia Agostinis, Paul Rutgeerts, Séverine Vermeire &

Isabelle Cleynen (2013) Genetic association and functional role of Crohn disease risk alleles involved in microbial sensing, autophagy, and endoplasmic reticulum (ER) stress, Autophagy, 9:12, 2046-2055, DOI: 10.4161/auto.26337 To link to this article: https://doi.org/10.4161/auto.26337 View supplementary material Published online:

14 Nov 2013. Submit your article to this journal Article views:

1386 Citing articles:

32 View citing articles Autophagy 9:12, 2046C2055;

December 2013;

?

2013 Landes Bioscience Basic Research Paper

2046 Autophagy Volume

9 Issue

12 Introduction Crohn disease (CD) and ulcerative colitis (UC) are the two main phenotypes of inflammatory bowel disease (IBD). Both are chronic inflammatory diseases of the gastrointestinal tract, characterized by recurring periods of diarrhea, abdominal pain, and weight loss. They are multifactorial diseases, occurring in genetically susceptible individuals in whom an abnormal immune response results from a complex interaction among environmental and microbial factors, and the intestinal immune system. Inrecentyears,strongprogresshasbeenmadeinunderstanding the genetic basis of CD by genome-wide association studies (GWAS). Two different meta-analyses of the CD GWAS brought the number to

71 susceptibility loci meeting genome- wide significance.1,2 More recently a meta-analysis of CD and UC GWAS, with extensive validation of significant findings and a combined total of more than 75,000 cases and controls brought the total number to

163 IBD loci:

110 for both CD and UC,

30 CD-specific, and

23 UC-specific.3 *Correspondence to: Isabelle Cleynen;

Email: [email protected] Submitted: 06/18/2012;

Revised: 08/21/2013;

Accepted: 09/02/2013 http://dx.doi.org/10.4161/auto.26337 Genetic association and functional role of Crohn disease risk alleles involved in microbial sensing, autophagy, and endoplasmic reticulum (ER) stress Eveline Hoefkens,1,? Kris Nys,1,2,? Jestinah M John,3,4 Kristel Van Steen,3,4 Ingrid Arijs,1 Jan Van der Goten,1 Gert Van Assche,1 Patrizia Agostinis,2 Paul Rutgeerts,1 Séverine Vermeire,1 and Isabelle Cleynen1, *

1 Department of Clinical and Experimental Medicine;

Translational Research Center for Gastrointestinal Disorders (TARGID);

KU Leuven;

Leuven, Belgium;

2 Cell Death Research and Therapy Unit;

Department for Cellular and Molecular Medicine;

Catholic University of Leuven;

Leuven, Belgium;

3 Systems and Modeling Unit;

Montefiore Institute;

University of Liège;

Liège, Belgium;

4 Bioinformatics and Modeling;

GIGA-R;

University of Liège;

Liège, Belgium ? These authors contributed equally to this work. Keywords: Crohn disease, ulcerative colitis, autophagy, ER stress, genetic interaction Abbreviations: AMPs, antimicrobial peptides;