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Izpis gradiva

Naslov:The quest for genetic risk factors for Crohn's disease in the post-GWAS era
Avtorji:Fransen, Karin (Avtor)
Mitrovič, Mitja (Avtor)
Diemen, Cleo C van (Avtor)
Weersma, Rinse K. (Avtor)
Datoteke:.pdf RAZ_Fransen_Karin_i2011.pdf (477,79 KB)
MD5: EA5D22DCB1E3EFF32F5499E2B11DF2BA
 
URL http://genomemedicine.com/content/pdf/gm227.pdf
 
Jezik:Angleški jezik
Vrsta gradiva:Znanstveno delo (r2)
Tipologija:1.02 - Pregledni znanstveni članek
Organizacija:MF - Medicinska fakulteta
Opis: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
Leto izida:2011
Št. strani:str. 1-13
Številčenje:Letn. 3
ISSN:1756-994X
UDK:616.344:577
COBISS_ID:512172600 Novo okno
DOI:10.1186/gm227 Novo okno
ISSN pri članku:1756-994X
NUK URN:URN:SI:UM:DK:S10E3EJ4
Število ogledov:1590
Število prenosov:182
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
Področja:Ostalo
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Gradivo je del revije

Naslov:Genome Medicine
Skrajšan naslov:Genome Med.
Založnik:BioMed Central
ISSN:1756-994X
COBISS.SI-ID:518185497 Novo okno

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:05.06.2012

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:genetski faktorji tveganja, Crohnova bolezen


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