University of Groningen
Genetic susceptibility for inflammatory bowel disease across ethnicities and diseases
van Sommeren, Suzanne
DOI:
10.33612/diss.100597247
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Publication date:
2019
Link to publication in University of Groningen/UMCG research database
Citation for published version (APA):
van Sommeren, S. (2019). Genetic susceptibility for inflammatory bowel disease across ethnicities and
diseases. Rijksuniversiteit Groningen. https://doi.org/10.33612/diss.100597247
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Printing of this thesis was financially supported by:
University of Groningen, University Medical Centre Groningen, Nederlandse Vereniging voor Gastroenerologie (NVGE), Norgine BV, Ferring BV, Teva Netherlands BV, Dr. Falk Pharma Benelux BV, Mylan BV, Pfizer BV and Lamepro BV.
ISBN (printed version): 978-94-034-2053-0 ISBN (electronic version): 978-94-034-2052-3
Cover design and layout: Lovebird design. www.lovebird-design.com Printing: Eikon +
Copyright © 2019 by Suzanne van Sommeren. All rights reserved. No part of this book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, without prior permission of the author.
Genetic Susceptibility for
InflammatoryBowelDiseaseacross
ethnicitiesanddiseases
Proefschrift
ter verkrijging van de graad van doctor aan de
Rijksuniversiteit Groningen
op gezag van de
rector magnificus prof. dr. E. Sterken
en volgens besluit van het College voor Promoties.
De openbare verdediging zal plaatsvinden op
maandag 25 november 2019 om 12.45 uur
door
Suzanne van Sommeren
geboren op 17 december 1984
te Luyksgestel
Promotores
Prof. dr. R.K. Weersma
Prof. dr. C. Wijmenga
Beoordelingscommissie
Prof. dr .G. Bouma
Prof. dr. A. Zhernakova
Prof. dr. H.J. Verkade
Paranimfen
M.T.J. (Thecla) Wortelboer
A.M.L. (Marjolein) IJbema-Blom
TABLE OF CONTENTS
CHAPTER 1Introduction and outline of the thesis ... 7
Part 1 Identification of genetic risk factors for Inflammatory Bowel Disease and the influence on gene expression ������������������������������������������������������������������� 19 CHAPTER 2 HNF4α and CDH1 are associated with ulcerative colitis in a Dutch cohort Inflammatory Bowel Diseases. 2011;17(8)1714–8 ... 21
CHAPTER 3 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations Nature Genetics 2015;47(9):979–86 ... 31
CHAPTER 4 Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn’s diasease Human Molecular Genetics. 2010 Sep 1;19(17):3482–8 ... 53
CHAPTER 5 Correlation of genetic risk and mRNA expression in a Th17/IL23 pathway analysis in Inflammatory Bowel Disease Inflammatory Bowel Diseases. 2014;20(5):777–82... 67
Part 2 Genetic risk factors for Inflammatory Bowel Disease in other diseases �������������� 79 CHAPTER 6 Extra-intestinal manifestations and complications in inflammatory bowel disease – From shared genetics to shared biological pathways. Inflammatory Bowel Diseases 2014;20(6):987–94 ... 81
CHAPTER 7 Clinical and genetic characterization of patients with gastro-intestinal graft-vs.-host disease (GI-GVHD) after allogeneic hematopoietic cell transplantation suggests a role for JAK2, IL2RA and IL2. In preparation ... 95
CHAPTER 8 Conclusion, discussion and future perspectives ... 111
ADDENDUM Nederlandse samenvatting ... 125
List of publications ... 128
Curriculum Vitae ... 130
