ǂThe ǂquest for genetic risk factors for Crohn's disease in the post-GWAS era

Karin Fransen (Avtor), Mitja Mitrovič (Avtor), Cleo C van Diemen (Avtor), Rinse K. Weersma (Avtor)

Povzetek

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.

Ključne besede

genetic risk factors;Crohn’s disease;

Podatki

Jezik:	Angleški jezik
Leto izida:	2011
Tipologija:	1.02 - Pregledni znanstveni članek
Organizacija:	UM MF - Medicinska fakulteta
UDK:	616.344:577
COBISS:	512172600
ISSN:	1756-994X
Št. ogledov:	1899
Št. prenosov:	211
Ocena:	0 (0 glasov)
Metapodatki:

Ostali podatki

Sekundarni jezik:	Slovenski jezik
Sekundarne ključne besede:	Crohn Disease;genetics;Crohnova bolezen;Genetika;
URN:	URN:SI:UM:
Vrsta dela (COBISS):	Znanstveno delo
Strani:	10 str.
Letnik:	Vol. 3
Zvezek:	iss. 2
Čas izdaje:	2011
Ključne besede (UDK):	applied sciences;medicine;technology;uporabne znanosti;medicina;tehnika;medical sciences;medicina;pathology;clinical medicine;patologija;klinična medicina;pathology of the digestive system;complaints of the alimentary canal;bolezni prebavil;gastroenterologija;mathematics;natural sciences;naravoslovne vede;matematika;biological sciences in general;biologija;material bases of life;biochemistry;molecular biology;biophysics;biokemija;molekularna biologija;biofizika;
DOI:	10.1186/gm227
ID:	13862