Lessons learned-resolving the enigma of genetic factors in IBS

Maria Gazouli, Mira M. Wouters, Lejla Kapur-Pojskić, May Bente Bengtson, Eitan Friedman, Gordana Nikčević, Christiana A. Demetriou, Agata Mulak, Javier Santos, Beate Niesler

Research output: Contribution to journalReview articlepeer-review

51 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)77-87
Number of pages11
JournalNature Reviews Gastroenterology and Hepatology
Volume13
Issue number2
DOIs
Publication statusPublished - 1 Feb 2016
Externally publishedYes

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