Lessons learned - resolving the enigma of genetic factors in IBS
| Autor: | May-Bente Bengtson, Beate Niesler, Maria Gazouli, Agata Mulak, Christiana A. Demetriou, Javier Santos, Gordana Nikcevic, Eitan Friedman, Mira M. Wouters, Lejla Kapur-Pojskić |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Epigenomics medicine.medical_specialty Candidate gene Serotonin Context (language use) Genome-wide association study Tight Junctions Irritable Bowel Syndrome 03 medical and health sciences 0302 clinical medicine Functional gastrointestinal disorder medicine Humans Molecular Biology Irritable bowel syndrome Genetic association Genetics Hepatology business.industry Gastroenterology Genetic Variation Nociceptors medicine.disease Twin study 3. Good health 030104 developmental biology Research Design Medical genetics 030211 gastroenterology & hepatology business Clinical psychology Genome-Wide Association Study |
| Zdroj: | Nature Reviews Gastroenterology & Hepatology |
| Popis: | 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. ispartof: Nature Reviews. Gastroenterology & Hepatology vol:13 issue:2 pages:77-87 ispartof: location:England status: published |
| Databáze: | OpenAIRE |
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