The quest for genetic risk factors for Crohn's disease in the post-GWAS era

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 a...

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Main Authors:	Fransen, Karin, Mitrovic, Mitja, van Diemen, Cleo C, Weersma, Rinse K
Format:	Online
Language:	English
Published:	BioMed Central 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092098/

id	pubmed-3092098
recordtype	oai_dc
spelling	pubmed-30920982012-02-25 The quest for genetic risk factors for Crohn's disease in the post-GWAS era Fransen, Karin Mitrovic, Mitja van Diemen, Cleo C Weersma, Rinse K Review 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 in this 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 epigenetic interactions. Here, we outline potential sources of this hidden heritability, focusing on Crohn's disease and the currently available data. We also 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 the current limitations, such strategies may help to transfer research achievements into clinical practice and guide the improvement of preventive and therapeutic measures. BioMed Central 2011-02-25 /pmc/articles/PMC3092098/ /pubmed/21392414 http://dx.doi.org/10.1186/gm227 Text en Copyright ©2011 BioMed Central Ltd
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Fransen, Karin Mitrovic, Mitja van Diemen, Cleo C Weersma, Rinse K
spellingShingle	Fransen, Karin Mitrovic, Mitja van Diemen, Cleo C Weersma, Rinse K The quest for genetic risk factors for Crohn's disease in the post-GWAS era
author_facet	Fransen, Karin Mitrovic, Mitja van Diemen, Cleo C Weersma, Rinse K
author_sort	Fransen, Karin
title	The quest for genetic risk factors for Crohn's disease in the post-GWAS era
title_short	The quest for genetic risk factors for Crohn's disease in the post-GWAS era
title_full	The quest for genetic risk factors for Crohn's disease in the post-GWAS era
title_fullStr	The quest for genetic risk factors for Crohn's disease in the post-GWAS era
title_full_unstemmed	The quest for genetic risk factors for Crohn's disease in the post-GWAS era
title_sort	quest for genetic risk factors for crohn's disease in the post-gwas era
description	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 in this 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 epigenetic interactions. Here, we outline potential sources of this hidden heritability, focusing on Crohn's disease and the currently available data. We also 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 the current limitations, such strategies may help to transfer research achievements into clinical practice and guide the improvement of preventive and therapeutic measures.
publisher	BioMed Central
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092098/
_version_	1611453217303953408

The quest for genetic risk factors for Crohn's disease in the post-GWAS era

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