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 |