Skip to main content
  • Book
  • © 2019

Molecular Genetics of Inflammatory Bowel Disease

  • Provides a complete review of existing knowledge of molecular genetics in inflammatory bowel diseases

  • Highlights the latest discoveries from molecular and genome-wide association studies

  • Gives insight into disease pathogenesis and potential targets for pharmaceutical intervention

Buy it now

Buying options

eBook USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (17 chapters)

  1. Front Matter

    Pages i-x
  2. The Foundation of IBD Genetics: Human and Animal Models

    1. Front Matter

      Pages 1-1
    2. Experimental Models of Intestinal Inflammation: Lessons from Mouse and Zebrafish

      • Oscar E. Diaz, Rodrigo A. Morales, Srustidhar Das, Eduardo J. Villablanca
      Pages 47-76
  3. The Genetic and Molecular Makeup of IBD

    1. Front Matter

      Pages 77-77
    2. Complex Disease Genes and Their Discovery

      • Jeffrey C. Barrett, Mark J. Daly
      Pages 79-89
    3. IBD Genomic Risk Loci and Overlap with Other Inflammatory Diseases

      • Fatemeh Hadizadeh, Charlie W. Lees, Catherine Labbé, John D. Rioux, Miles Parkes, Alexandra Zhernakova et al.
      Pages 91-115
    4. Genetic Risk Prediction in IBD

      • Urko M. Marigorta
      Pages 141-156
    5. Molecular Profiling of IBD Subtypes and Therapy Responses

      • Ho-Su Lee, Isabelle Cleynen
      Pages 157-182
    6. Inflammatory Bowel Disease and Epigenetics

      • Antonella Fazio, Dora Bordoni, Philip Rosenstiel
      Pages 183-201
    7. MicroRNAs and Inflammatory Bowel Disease

      • Matthias Hübenthal, Andre Franke, Simone Lipinski, Simonas Juzėnas
      Pages 203-230
    8. IBD Genetics and the Gut Microbiome

      • Shixian Hu, Alexander Kurilshikov, Alexandra Zhernakova, Rinse Weersma
      Pages 231-248
  4. Pathogenetic Pathways in IBD

    1. Front Matter

      Pages 249-249
    2. NOD1 and NOD2 and the Immune Response to Bacteria

      • Maria Kaparakis-Liaskos, Ashleigh Goethel, Dana J. Philpott
      Pages 251-280
    3. The IL-23/Th17 Axis in Intestinal Inflammation

      • Kevin J. Maloy
      Pages 281-303
    4. Inflammatory Bowel Disease at the Intersection of Autophagy and Immunity: Insights from Human Genetics

      • Natalia Nedelsky, Petric Kuballa, Adam B. Castoreno, Ramnik J. Xavier
      Pages 305-328
    5. The Epithelial Barrier

      • Celia Escudero-Hernández, Stefan Koch
      Pages 329-345
    6. The Gut Microbiome in Inflammatory Bowel Disease

      • Aonghus Lavelle, Harry Sokol
      Pages 347-377

About this book

This book reaches out to a wide variety of professionals in the biomedical field with an interest in inflammatory bowel disease (IBD). Enormous progress has been made in the last few years since the publication of the first edition in the study of complex diseases and IBD, with hundreds of genomic regions identified that are associated with increased risk. Authored by leading clinical and research scientists in the field, the book includes state-of-the art synopses of recent genetic findings, and their interpretation for current and future exploitation in translational approaches to personalized medicine in IBD. The book also covers risk prediction, improved diagnostic and therapeutic precision, dissection of disease phenotypes and subtypes, identification of biomarkers, and host gene-microbiota interactions of clinical relevance.

Editors and Affiliations

  • Gastroenterology unit, Patient Area Gastroenterology, Dermatovenereology and Rheumatology, Karolinska University Hospital, Stockholm, Sweden

    Charlotte Hedin

  • Montreal Heart Institute and Université de Montréal, Montréal, Canada

    John D. Rioux

  • School of Biological Sciences, Monash University, Clayton, Australia

    Mauro D'Amato

About the editors

Charlotte Hedin, MD PhD 

Dr Charlotte Hedin is a specialist in luminal gastroenterology at the Karolinska University Hospital in Stockholm. She completed her PhD on Crohn’s disease pathogenesis at King’s College London and Queen Mary University of London. In 2017 she was awarded a UEG Rising Star award for her research in IBD, and in 2018 the Karolina prize for “Exemplary patient flow and quality work” at the Karolinska Hospital. She holds a clinical post-doctorate from the Karolinska Hospital. She is a member of the Swedish Organisation for the study of IBD (SOIBD)) and is committee member for the European Crohn’s and Colitis Organisation (ECCO). In addition she collaborates in international IBD research projects, (including the GEM project). Dr Hedin’s research focusses on delineating pathogenic pathways in IBD through studying at-risk individuals (families of IBD patients) and defining the process of mucosal healing. 

John D. Rioux, PhD

Dr John D. Rioux is a Full Professor of Medicine at Université de Montréal (UdeM) and Senior Researcher at the Montreal Heart Institute (MHI) and holder of the Canada Research Chair in Genetics and Genomic Medicine. He is a founding member of multiple international consortia and currently co-leads the International IBD Genetics Consortium, is Chair of the Steering Committee of the NIDDK IBD Genetics Consortium and is the leader of the IBD Genomic Medicine (iGenoMed) Consortium. Dr. Rioux’s research focuses on three main areas: (1) genetic studies to identify risk factors for common and rare diseases; (2) functional studies to understand how these genetic risk factors protect or predispose to disease; and (3) integrative human studies to identify predictive biomarkers of important clinical outcomes. Dr. Rioux’s work has led to over 200 publications, cited over 30,000 times. 

Mauro D’Amato, PhD

Dr Mauro D’Amato is Professor of Genetics and Genomics and Head of the Gastrointestinal Genetics Unit at the School of Biological Sciences, Faculty of Science, Monash University in Melbourne, Australia. He conceived and coordinates the largest gene-mapping effort in irritable bowel syndrome, the bellygenes initiative exploiting data from >800,000 individuals, has served in the Management Committee of several consortia including the International IBD Genetics Consortium, and is member of the European Microscopic Colitis Group. His team combine genomic, computational and pre-clinical expertise to elucidate the pathogenetic mechanisms predisposing to inflammatory and functional gastrointestinal diseases. The druggable genome, nutrigenetics and host (genome) - microbiota interactions are also new research lines within the group. D’Amato’s research has resulted in more than 150 publications and over 13,000 citations.

Bibliographic Information

  • Book Title: Molecular Genetics of Inflammatory Bowel Disease

  • Editors: Charlotte Hedin, John D. Rioux, Mauro D'Amato

  • DOI: https://doi.org/10.1007/978-3-030-28703-0

  • Publisher: Springer Cham

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer Nature Switzerland AG 2019

  • Hardcover ISBN: 978-3-030-28702-3Published: 20 December 2019

  • Softcover ISBN: 978-3-030-28705-4Published: 21 January 2021

  • eBook ISBN: 978-3-030-28703-0Published: 19 December 2019

  • Edition Number: 2

  • Number of Pages: X, 402

  • Number of Illustrations: 2 b/w illustrations, 35 illustrations in colour

  • Topics: Human Genetics, Molecular Medicine, Gastroenterology

Buy it now

Buying options

eBook USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access