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Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression
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(2013) Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Human Molecular Genetics, Volume 22 (Number 12). pp. 2520-2528. doi:10.1093/hmg/ddt086 ISSN 0964-6906.
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WRAP_Muir_Hum. Mol. Genet.-2013-Kote-Jarai-2520-8.pdf - Published Version Available under License Creative Commons Attribution Non-commercial. Download (841Kb) | Preview |
Official URL: http://dx.doi.org/10.1093/hmg/ddt086
Abstract
Associations between single nucleotide polymorphisms (SNPs) at 5p15 and multiple cancer types have been reported. We have previously shown evidence for a strong association between prostate cancer (PrCa) risk and rs2242652 at 5p15, intronic in the telomerase reverse transcriptase (TERT) gene that encodes TERT. To comprehensively evaluate the association between genetic variation across this region and PrCa, we performed a fine-mapping analysis by genotyping 134 SNPs using a custom Illumina iSelect array or Sequenom MassArray iPlex, followed by imputation of 1094 SNPs in 22 301 PrCa cases and 22 320 controls in The PRACTICAL consortium. Multiple stepwise logistic regression analysis identified four signals in the promoter or intronic regions of TERT that independently associated with PrCa risk. Gene expression analysis of normal prostate tissue showed evidence that SNPs within one of these regions also associated with TERT expression, providing a potential mechanism for predisposition to disease.
Item Type: | Journal Article | ||||
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Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) |
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Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
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Library of Congress Subject Headings (LCSH): | Gene expression , Prostate -- Cancer, Genomics, Molecular genetics, High resolution spectroscopy | ||||
Journal or Publication Title: | Human Molecular Genetics | ||||
Publisher: | Oxford University Press | ||||
ISSN: | 0964-6906 | ||||
Official Date: | June 2013 | ||||
Dates: |
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Volume: | Volume 22 | ||||
Number: | Number 12 | ||||
Page Range: | pp. 2520-2528 | ||||
DOI: | 10.1093/hmg/ddt086 | ||||
Status: | Peer Reviewed | ||||
Publication Status: | Published | ||||
Access rights to Published version: | Open Access (Creative Commons) | ||||
Date of first compliant deposit: | 1 August 2016 | ||||
Date of first compliant Open Access: | 1 August 2016 | ||||
Funder: | Seventh Framework Programme (European Commission) (FP7), Cancer Research UK (CRUK), National Institutes of Health (U.S.) (NIH), Prostate Action, Orchid (Great Britain), National Institute for Health Research (Great Britain) (NIHR), National Cancer Research Institute (NCRI) | ||||
Grant number: | 223175, HEALTH-F2-2009-223175 (FP7) ; C5047/A7357, C1287/A10118, C5047/A3354, C5047/ A10692, C16913/A6135 (CRUK); 1 U19 CA 148537-01 (NIH) |
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