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, Roslin Russel, Alison M Dunning, Craig Luccarini, Joe Dennis, David E. Neal, Freddie C Hamdy, Jenny L. Donovan, Ken Muir, Graham G. Giles, Gianluca SeveriFredrik Wiklund, Henrik Gronberg, Christopher A Haiman, Fredrick Schumacher, Brian E Henderson, Loic Le Marchand, Sara Lindstrom, Peter Kraft, David J. Hunter, Susan M. Gapstur, Stephen J Chanock, Sonja I. Berndt, Demetrius Albanes, Gerald L Andriole, Johanna Schleutker, Maren Weischer, Federico Canzian, Elio B Riboli, Tim J. Key, Ruth C Travis, Daniele Campa, Sue A. Ingles, Esther M. John, Richard B Hayes, Paul D P Pharoah, Kay-Tee Khaw, Janet L. Stanford, Elaine A. Ostrander, Lisa B. Signorello, Stephen N. Thibodeau, Dan Schaid, Christiane Maier, Walther Vogel, Adam S. Kibel, Cezary Cybulski, Jan Lubinski, Lisa Cannon-Albright, Hermann Brenner, Jong Y. Park, Radka P. Kaneva, Jyotsna Batra, Amanda B Spurdle, Judith A. Clements, Manuel R Teixeira, Koveela Govindasami, Michelle Guy, Rosemary A Wilkinson, Emma J. Sawyer, Angela Morgan, Ed Dicks, Caroline Baynes, Don M. Conroy, Stig E Bojesen, Rudolf J Kaaks, Daniel Vincent, Francois Bacot, Daniel C. Tessier, Douglas F Easton, Rosalind A Eeles

Research output: Contribution to journalArticleResearchpeer-review

81 Citations (Scopus)


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
Issue number12
Publication statusPublished - Jun 2013
Externally publishedYes

Cite this

Kote-Jarai, Z., Saunders, E. J., Leongamornlert, D. A., Tymrakiewicz, M., Dadaev, T., Jugurn-Little, S., Ross-Adams, H., Al Olama, A. A., Benlloch, S., Halim, S., Russel, R., Dunning, A. M., Luccarini, C., Dennis, J., Neal, D. E., Hamdy, F. C., Donovan, J. L., Muir, K., Giles, G. G., ... Eeles, R. A. (2013). Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Human Molecular Genetics, 22(12), 2520-2528.