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Hum Mol Genet. 2013 Jun 15;22(12):2520-8. doi: 10.1093/hmg/ddt086. Epub 2013 Mar 27.

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.

Author information

1
The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK. zsofia.kote-jarai@icr.ac.uk

Erratum in

  • Hum Mol Genet. 2013 Oct 15;22(20):4239. Russel, Roslin [corrected to Russell, Roslin].

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.

PMID:
23535824
PMCID:
PMC3658165
DOI:
10.1093/hmg/ddt086
[Indexed for MEDLINE]
Free PMC Article

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