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University of Groningen Genomic medicine in inflammatory bowel disease Voskuil, Michiel

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University of Groningen

Genomic medicine in inflammatory bowel disease

Voskuil, Michiel

DOI:

10.33612/diss.136307453

IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below.

Document Version

Publisher's PDF, also known as Version of record

Publication date: 2020

Link to publication in University of Groningen/UMCG research database

Citation for published version (APA):

Voskuil, M. (2020). Genomic medicine in inflammatory bowel disease. University of Groningen. https://doi.org/10.33612/diss.136307453

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GENOMIC MEDICINE IN

INFLAMMATORY BOWEL DISEASE

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Printing of this thesis was financially supported by the University of Groningen, the Graduate School of Medical Sciences of the University Medical Center Groningen, Noord Negentig, Takeda, Pfizer, Mylan, Norgine, TEVA Nederland, Tramedico, Ferring, and Dr. Falk Pharma Benelux B.V.

Printed by Ipskamp Printing

Enschede, the Netherlands Design & layout Bianca Pijl, www.pijlldesign.nl Groningen, the Netherlands

© Copyright: 2020 M.D. Voskuil, Groningen, the Netherlands

All rights reserved. No part of this thesis may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, without prior written permission of the author, or when appropriate, of the publishers of the publications included in this thesis.

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Proefschrift

ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen

op gezag van de

rector magnificus prof. dr. C. Wijmenga en volgens besluit van het College voor Promoties

De openbare verdediging zal plaatsvinden op maandag 9 november 2020 om 14:30 uur

door

Michiel Dirk Voskuil geboren op 10 september 1991

te Nieuwegein

GENOMIC MEDICINE IN

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Promotor Prof. dr. R.K. Weersma Copromotor Dr. E.A.M. Festen Beoordelingscommissie Prof. dr. H. Bootsma Prof. dr. G. Bouma Prof. dr. R.H. Sijmons

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Paranimfen

Drs. F.J. Voskuil Dr. S.J. de Jongh

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Chapter 1 Chapter 2 Chapter 3 Chapter 4 Chapter 5 Chapter 6 Chapter 7 Introduction

General introduction and outline of the thesis

Part I – Aetiology

The genetic background of inflammatory bowel disease: from correlation to causality

Journal of Pathology 2017

Single cell RNA sequencing of blood and ileal T cells from patients with Crohn’s disease reveals tissue-specific characteristics and drug targets

Gastroenterology 2019 (modified version)

Part II – Disease course

Genetic risk scores identify genetic aetiology of inflammatory bowel disease phenotypes

Submitted

Part III – Therapy

Predicting side effects for patients with inflammatory bowel disease: the promise of pharmacogenetics

World Journal of Gastroenterology 2019

Association of genetic variants in NUDT15 with thiopurine-induced myelosuppression in patients with inflammatory bowel disease

JAMA 2019

Exome-wide association study identifies a frameshift mutation in

ZNF516 as genetic determinant of thiopurine-induced hepatoxicity

in patients with inflammatory bowel disease

In progress 11 21 47 75 93 109 135 Table of contents

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Chapter 8

Chapter 9

Chapter 10 Chapter 11

Predicted efficacy of a pharmacogenetic passport for inflammatory bowel disease

Alimentary Pharmacology and Therapeutics 2020

COVID-19 and IBD

TNFα-antagonist use and mucosal inflammation are associated with increased intestinal expression of SARS-CoV-2 host protease TMPRSS2 in patients with inflammatory bowel disease

Gastroenterology 2020

Discussion

Summary

General discussion and future perspectives

Appendices Summary in Dutch List of publications Curriculum Vitae Dankwoord 157 179 189 195 219 225 233 237 Table of contents

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