University of Groningen. Finding the missing 'LiNCs' in celiac disease Hrdlicková, Barbara

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1 University of Groningen Finding the missing 'LiNCs' in celiac disease Hrdlicková, Barbara 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: 2015 Link to publication in University of Groningen/UMCG research database Citation for published version (APA): Hrdlicková, B. (2015). Finding the missing 'LiNCs' in celiac disease. [Groningen]: University of Groningen. Copyright Other than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons). Take-down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. Downloaded from the University of Groningen/UMCG research database (Pure): For technical reasons the number of authors shown on this cover page is limited to 10 maximum. Download date:

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3 Barbara Hrdlickova Finding the missing LiNCs in celiac disease Thesis, University of Groningen, with summary in Englich and Dutch The research described in this thesis was conducted at the Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands. Printing of this thesis was financially supported by University of Groningen and Graduate School for Drug Exploration (GUIDE) at University Medical Center Groningen. Cover Design, Thesis Layout and printing: Lovebird design & printing solutions ISBN (print): ISBN (electronic): Copyright 2014 by Barbara Hrdlickova. 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 permission of the author.

4 Finding the missing LiNCs in celiac disease PhD thesis to obtain the degree of PhD at the University of Groningen on the authority of the Rector Magnificus Prof. E. Sterken and in accordance with the decision by the College of Deans. This thesis will be defended in public on Monday 11 May 2015 at hours by Barbara Hrdlickova born on 22 March 1981 in Liberec, Czech Republic

5 Supervisor Prof. T.N. Wijmenga Co-supervisors Dr. S. Withoff Dr. V.K. Magadi Gopalaiah Assessment committee Prof. C.J. Mulder Prof. M.G. Rots Prof. R.K. Weersma

6 Paranymphs: Dieuwertje Vyrena Homan Melanie Meister-Broekema Isis Ricaño-Ponce

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8 I dedicate this work to my blue grandma, Dr. Doris Štruncová, who helped me get to where and who I am today, and also to my great-grandfather, Dr. Arnošt Lewi, PrD.

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10 TABLE OF CONTENTS CHAPTER 1 Preface & outline of the thesis 11 CHAPTER 2 Celiac disease: moving from genetic associations to causal variants 23 CHAPTER 3 The genetics of RCDII 39 CHAPTER 4 CHAPTER 5 CHAPTER 6 CHAPTER 7 Regulatory mechanisms of celiac disease associated SNPs outside protein-coding genes Genetic variation in the non-coding genome: involvement of micro-rnas and long non-coding RNAs in disease The role of celiac disease loci-associated lncrna genes: an explorative study Expression profiles of long non-coding RNAs located in autoimmune disease-associated regions reveal immune cell-type specificity CHAPTER 8 General discussion and future perspectives 159 APPENDICES Summary 175 Samenvatting 178 Acknowledgements 182 Curriculum vitae 186 List of publications 187

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