Τίτλος:
Lessons learned-resolving the enigma of genetic factors in IBS
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2016 Macmillan Publishers Limited. All rights reserved.
Συγγραφείς:
Gazouli, M.
Wouters, M.M.
Kapur-Pojskić, L.
Bengtson, M.-B.
Friedman, E.
Nikčević, G.
Demetriou, C.A.
Mulak, A.
Santos, J.
Niesler, B.
Περιοδικό:
Nature Reviews Gastroenterology and Hepatology
Εκδότης:
Nature Publishing Group
Λέξεις-κλειδιά:
bile acid; Klotho protein; serotonin; serotonin, epigenetics; FGFR4 gene; gene; genetic association; genetic risk; genetic variability; genome analysis; genotype; heritability; HTR3A gene; HTR3B gene; HTR3E gene; human; immunity; intestine function; irritable colon; KDLER2 gene; KLB gene; molecular genetics; nerve function; nonhuman; pharmacogenetics; priority journal; Review; SCN5A gene; serotoninergic system; single nucleotide polymorphism; SLC6A4 gene; TNFSF15 gene; genetic variation; genetics; genome-wide association study; Irritable Bowel Syndrome; metabolism; methodology; molecular biology; pain receptor; physiology; tight junction, Epigenomics; Genetic Variation; Genome-Wide Association Study; Humans; Irritable Bowel Syndrome; Molecular Biology; Nociceptors; Research Design; Serotonin; Tight Junctions
DOI:
10.1038/nrgastro.2015.206
