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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.

Original publication

DOI

10.1093/hmg/ddt086

Type

Journal article

Journal

Human molecular genetics

Publication Date

06/2013

Volume

22

Pages

2520 - 2528

Addresses

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

Keywords

COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative, UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, UK ProtecT Study Collaborators, PRACTICAL Consortium, Chromosomes, Human, Pair 5, Humans, Prostatic Neoplasms, Genetic Predisposition to Disease, Telomerase, Case-Control Studies, Chromosome Mapping, Genotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Adult, Male, Promoter Regions, Genetic