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Naslov:Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci
Avtorji:ID Fransen, Karin (Avtor)
ID Mitrovič, Mitja (Avtor)
ID Potočnik, Uroš (Avtor)
Datoteke:.pdf PLoS_ONE_2012_Fransen_et_al._Limited_Evidence_for_Parent-of-Origin_Effects_in_Inflammatory_Bowel_Disease_Associated_Loci.PDF (495,25 KB)
MD5: 0B2D74273FB11572048964C40FC54250
 
URL http://dx.plos.org/10.1371/journal.pone.0045287
 
Jezik:Angleški jezik
Vrsta gradiva:Znanstveno delo
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:MF - Medicinska fakulteta
Opis:Background Genome-wide association studies of two main forms of inflammatory bowel diseases (IBD), Crohnʼs disease (CD) and ulcerative colitis (UC), have identified 99 susceptibility loci, but these explain only ~23% of the genetic risk. Part of the Žhidden heritabilityʼ could be in transmissible genetic effects in which mRNA expression in the offspring depends on the parental origin of the allele (genomic imprinting), since children whose mothers have CD are more often affected than children with affected fathers. We analyzed parent-of-origin (POO) effects in Dutch and Indian cohorts of IBD patients. Methods We selected 28 genetic loci associated with both CD and UC, and testedthem for POO effects in 181 Dutch IBD case-parent trios. Three susceptibility variants in NOD2 were tested in 111 CD trios and a significant finding was re-evaluated in 598 German trios. The UC-associated gene, BTNL2, reportedly imprinted, was tested in 70 Dutch UC trios. Finally, we used 62 independent Indian UC trios to test POO effects of five established Indian UC risk loci. Results We identified POO effects for NOD2 (L1007fs; OR = 21.0, P-value = 0.013) for CD; these results could not be replicated in an independent cohort (OR = 0.97, P-value = 0.95). A POO effect in IBD was observed for IL12B (OR = 3.2, P-value = 0.019) and PRDM1 (OR = 5.6, P-value = 0.04). In the Indian trios the IL10 locus showed a POO effect (OR = 0.2, P-value = 0.03). Conclusions Little is known about the effect of genomic imprinting in complex diseases such as IBD. We present limited evidence for POO effects for the tested IBD loci. POO effects explain part of the hidden heritability for complex genetic diseases but need to be investigated further.
Ključne besede:inflammatory bowel diseases, IBD, genetic locus, genetics
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Leto izida:2012
Št. strani:str. 1-8
Številčenje:Letn. 7, št. 9
PID:20.500.12556/DKUM-50494 Novo okno
ISSN:1932-6203
UDK:616.34-002
COBISS.SI-ID:512221240 Novo okno
DOI:10.1371/journal.pone.0045287 Novo okno
ISSN pri članku:1932-6203
NUK URN:URN:SI:UM:DK:TAB6IGGS
Datum objave v DKUM:10.07.2015
Število ogledov:1687
Število prenosov:382
Metapodatki:XML DC-XML DC-RDF
Področja:Ostalo
:
FRANSEN, Karin, MITROVIČ, Mitja in POTOČNIK, Uroš, 2012, Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci. PloS one [na spletu]. 2012. Vol. 7, no. 9, p. 1–8. [Dostopano 9 april 2025]. DOI 10.1371/journal.pone.0045287. Pridobljeno s: https://dk.um.si/IzpisGradiva.php?lang=slv&id=50494
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Gradivo je del revije

Naslov:PloS one
Založnik:Public Library of Science
ISSN:1932-6203
COBISS.SI-ID:2005896 Novo okno

Gradivo je financirano iz projekta

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:J3-2175
Naslov:Gentski dejavniki tveganja in farmakogenomika kronično vnetne črevesne bolezni

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:10.07.2015

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:kronična vnetna črevesna bolezen, KVČB, genski lokus, genetika


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