liu.seSearch for publications in DiVA
Change search
ReferencesLink to record
Permanent link

Direct link
Variants of the PPARD Gene and Their Clinicopathological Significance in Colorectal Cancer
Linköping University, Department of Clinical and Experimental Medicine, Division of Clinical Sciences. Linköping University, Faculty of Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Clinical Sciences. Linköping University, Faculty of Health Sciences.
Karolinska Institute, Sweden .
Karolinska Institute, Sweden .
Show others and affiliations
2013 (English)In: PLoS ONE, ISSN 1932-6203, Vol. 8, no 12, 83952- p.Article in journal (Refereed) Published
Abstract [en]

Background: Peroxisome proliferator-activated receptor delta (PPARD) is nuclear hormone receptor involved in colorectal cancer (CRC) differentiation and progression. The purpose of this study was to determine prevalence and spectrum of variants in the PPARD gene in CRC, and their contribution to clinicopathological endpoints. Methods and Findings: Direct sequencing of the PPARD gene was performed in 303 primary tumors, in blood samples from 50 patients with greater than= 3 affected first-degree relatives, 50 patients with 2 affected first-degree relatives, 50 sporadic patients, 360 healthy controls, and in 6 colon cancer cell lines. Mutation analysis revealed 22 different transversions, 7 of them were novel. Three of all variants were somatic (c. 548Agreater thanG, p.Y183C, c.425-9Cgreater thanT, and c.628-16Ggreater thanA). Two missense mutations (p.Y183C and p.R258Q) were pathogenic using in silico predictive program. Five recurrent variants were detected in/adjacent to the exons 4 (c.1-87Tgreater thanC, c.1-67Ggreater thanA, c.130+3Ggreater thanA, and c.1-101-8Cgreater thanT) and exon 7 (c.489Tgreater thanC). Variant c.489C/C detected in tumors was correlated to worse differentiation (P=0.0397). Conclusions: We found 7 novel variants among 22 inherited or acquired PPARD variants. Somatic and/or missense variants detected in CRC patients are rare but indicate the clinical importance of the PPARD gene.

Place, publisher, year, edition, pages
Public Library of Science , 2013. Vol. 8, no 12, 83952- p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-104127DOI: 10.1371/journal.pone.0083952ISI: 000329325200151OAI: diva2:694667
Available from: 2014-02-07 Created: 2014-02-07 Last updated: 2014-06-04

Open Access in DiVA

fulltext(1069 kB)193 downloads
File information
File name FULLTEXT01.pdfFile size 1069 kBChecksum SHA-512
Type fulltextMimetype application/pdf

Other links

Publisher's full text

Search in DiVA

By author/editor
Ticha, IvanaGnosa, SebastianSun, Xiao-Feng
By organisation
Division of Clinical SciencesFaculty of Health SciencesDepartment of Oncology
In the same journal
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
Total: 193 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 44 hits
ReferencesLink to record
Permanent link

Direct link