Title: Lessons learned - resolving the enigma of genetic factors in IBS
Authors: Gazouli, Maria ×
Wouters, Mira
Kapur-Pojskić, Lejla
Bengtson, May-Bente
Friedman, Eitan
Nikčević, Gordana
Demetriou, Christiana A
Mulak, Agata
Santos, Javier
Niesler, Beate #
Issue Date: Feb-2016
Publisher: Nature Publishing Group
Series Title: Nature Reviews. Gastroenterology & Hepatology vol:13 issue:2 pages:77-87
Article number: 10.1038/nrgastro.2015.206
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.
ISSN: 1759-5045
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Research in GastroIntestinal Disorders
× corresponding author
# (joint) last author

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