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Title:The quest for genetic risk factors for Crohn's disease in the post-GWAS era
Authors:ID Fransen, Karin (Author)
ID Mitrovič, Mitja (Author)
ID Diemen, Cleo C van (Author)
ID Weersma, Rinse K. (Author)
Files:URL http://genomemedicine.com/content/pdf/gm227.pdf
 
.pdf RAZ_Fransen_Karin_i2011.pdf (477,79 KB)
MD5: EA5D22DCB1E3EFF32F5499E2B11DF2BA
PID: 20.500.12556/dkum/2977d8a9-f69f-4429-a1bb-dca139d401d5
 
Language:English
Work type:Scientific work
Typology:1.02 - Review Article
Organization:MF - Faculty of Medicine
Abstract:Multiple genome-wide association studies (GWASs) and two large scale meta-analyses have been performed for Crohn's disease and have identified 71 susceptibility loci. These findings have contributed greatly to our current understanding of the disease pathogenesis. Yet, these loci only explain approximately 23% of the disease heritability. One of the future challenges inthis post-GWAS era is to identify potential sources of the remaining heritability. Such sources may include common variants with limited effect size, rare variants with higher effect sizes, structural variations, or even more complicated mechanisms such as epistatic, gene-environment and epigeneticinteractions. Here, we outline potential sources of this hidden heritability, focusing on Crohn's disease and the currently available data. Wealso discuss future strategies to determine more about the heritability; these strategies include expanding current GWAS, fine-mapping, whole genome sequencing or exome sequencing, and using family-based approaches. Despite thecurrent limitations, such strategies may help to transfer research achievements into clinical practice and guide the improvement of preventive and therapeutic measures.
Keywords:genetic risk factors, Crohn’s disease
Publication status:Published
Publication version:Version of Record
Year of publishing:2011
Number of pages:str. 1-13
Numbering:Letn. 3
PID:20.500.12556/DKUM-31149 New window
ISSN:1756-994X
UDC:616.344:577
ISSN on article:1756-994X
COBISS.SI-ID:512172600 New window
DOI:10.1186/gm227 New window
NUK URN:URN:SI:UM:DK:S10E3EJ4
Publication date in DKUM:05.06.2012
Views:3559
Downloads:250
Metadata:XML RDF-CHPDL DC-XML DC-RDF
Categories:Misc.
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Record is a part of a journal

Title:Genome Medicine
Shortened title:Genome Med.
Publisher:BioMed Central
ISSN:1756-994X
COBISS.SI-ID:518185497 New window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:05.06.2012

Secondary language

Language:Slovenian
Keywords:genetski faktorji tveganja, Crohnova bolezen


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