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Title:Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci
Authors:ID Fransen, Karin (Author)
ID Mitrovič, Mitja (Author)
ID Potočnik, Uroš (Author)
Files:.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
 
Language:English
Work type:Scientific work
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Abstract: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.
Keywords:inflammatory bowel diseases, IBD, genetic locus, genetics
Publication status:Published
Publication version:Version of Record
Year of publishing:2012
Number of pages:str. 1-8
Numbering:Letn. 7, št. 9
PID:20.500.12556/DKUM-50494 New window
ISSN:1932-6203
UDC:616.34-002
ISSN on article:1932-6203
COBISS.SI-ID:512221240 New window
DOI:10.1371/journal.pone.0045287 New window
NUK URN:URN:SI:UM:DK:TAB6IGGS
Publication date in DKUM:10.07.2015
Views:1687
Downloads:382
Metadata:XML DC-XML DC-RDF
Categories:Misc.
:
FRANSEN, Karin, MITROVIČ, Mitja and POTOČNIK, Uroš, 2012, Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci. PloS one [online]. 2012. Vol. 7, no. 9, p. 1–8. [Accessed 8 April 2025]. DOI 10.1371/journal.pone.0045287. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=50494
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Record is a part of a journal

Title:PloS one
Publisher:Public Library of Science
ISSN:1932-6203
COBISS.SI-ID:2005896 New window

Document is financed by a project

Funder:ARRS - Slovenian Research Agency
Project number:J3-2175
Name:Gentski dejavniki tveganja in farmakogenomika kronično vnetne črevesne bolezni

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:10.07.2015

Secondary language

Language:Slovenian
Keywords:kronična vnetna črevesna bolezen, KVČB, genski lokus, genetika


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