Cited by 86Gastrointestinal motility and disordersGut microbiota and healthGenetic Associations and Epidemiology

Lessons learned — resolving the enigma of genetic factors in IBS

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Gazouli, Maria, Wouters, Mira M., Kapur-Pojskić, Lejla, Bengtson, May-Bente, Friedman, Eitan, Nikčević, Gordana, Demetriou, Christiana A., Mulak, Agata +2 more·2016·Nature Reviews Gastroenterology & Hepatology

Abstract

IBS is the most prevalent functional gastrointestinal disorder and phenotypically characterized by chronic abdominal discomfort, pain and altered defecation patterns. The pathophysiology of IBS is multifactorial, albeit with a substantial genetic component. To date, studies using various methodologies, ranging from family and twin studies to candidate gene approaches and genome-wide association studies, have identified several genetic variants in the context of IBS. Yet, despite enlarged sample sizes, increased statistical power and meta-analyses in the past 7 years, positive associations are still scarce and/or have not been reproduced. In addition, epigenetic and pharmacogenetic approaches remain in their infancy. A major hurdle is the lack of large homogenized case-control cohorts recruited according to standardized and harmonized criteria. The COST Action BM1106 GENIEUR (GENes in Irritable Bowel Syndrome Research Network EURope) has been established to address these obstacles. In this Review, the (epi)genetic working group of GENIEUR reports on the current state-of-the-art in the field, highlights fundamental flaws and pitfalls in current IBS (epi)genetic research and provides a vision on how to address and improve (epi)genetic approaches in this complex disorder in the future.

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  1. [88]88. Wohlfarth, C. et al. Impaired miRNA regulation may lead to altered 5-HT4 receptor levels in IBS-D patients OP089, 21. United Gastroenterology Week UEGW 2013, Berlin, Germany, October 12-16, 2013 (2013).

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Authors
Gazouli, M., Wouters, M. M., Kapur-Pojskić, L., Bengtson, M.-B., Friedman, E., Nikčević, G., Demetriou, C. A., Mulak, A., Santos, J., & Niesler, B.
Affiliations
  • National and Kapodistrian University of Athens (GR)
  • Universitair Ziekenhuis Leuven (BE)
  • Sykehuset i Vestfold (NO)
  • Sheba Medical Center (IL)
  • University of Belgrade (RS)
  • Cyprus Institute of Neurology and Genetics (CY)
  • Wroclaw Medical University (PL)
  • Universitat Autònoma de Barcelona (ES)
  • Heidelberg University (DE)
Corresponding author
Niesler, Beate
Venue
Nature Reviews Gastroenterology & Hepatology
Published
2016-01-04
Volume
13
Issue
2
Pages
77-87
ISSN
  • 1759-5045 (ISSN-L)
  • 1759-5053
OpenAlex
W2269154980
Cited by
86
References
142
Citations by year
2026: 3 · 2025: 3 · 2024: 5 · 2023: 7 · 2022: 11 · 2021: 8 · 2020: 8 · 2019: 13 · 2018: 8 · 2017: 10 · 2016: 10
FWCI
2.28
Type
journal article
Language
en
Open access
Locations
  • Nature Reviews Gastroenterology & Hepatology (publishedVersion)
  • PubMed (publishedVersion)
  • Lirias (KU Leuven) (submittedVersion, other-oa)
  • IMAGINE - Repository of the Institute of molecular genetics and genetic engineering (University of Belgrade) (submittedVersion)
Topics
  • Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gut microbiota and health
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
irritable bowel syndrome, genetic susceptibility, epigenetics, pharmacogenetics, IBS subtypes, genome-wide association study, candidate gene association, functional gastrointestinal disorders
MeSH terms
Humans, Molecular Biology, Nociceptors, Research Design, Serotonin, Genetic Variation, Tight Junctions, Irritable Bowel Syndrome, Genome-Wide Association Study, Epigenomics

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