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

  • Zsofia Kote-Jarai*
  • , Edward J. Saunders
  • , Daniel A. Leongamornlert
  • , Malgorzata Tymrakiewicz
  • , Tokhir Dadaev
  • , Sarah Jugurn-Little
  • , Helen Ross-Adams
  • , Ali Amin Al Olama
  • , Sara Benlloch
  • , Silvia Halim
  • , COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative
  • , The UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons’ Section of Oncology
  • , The UK Protect Study Collaborators
  • , The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium
  • , Jyotsna Batra
  • *Corresponding author for this work

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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.
Original languageEnglish
Pages (from-to)2520-2528
Number of pages9
JournalHuman Molecular Genetics
Volume22
Issue number12
DOIs
Publication statusPublished - 1 Jan 2013
Externally publishedYes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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