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Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression
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 en...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658165/ https://www.ncbi.nlm.nih.gov/pubmed/23535824 http://dx.doi.org/10.1093/hmg/ddt086 |
| _version_ | 1782270228057554944 |
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| author | Kote-Jarai, Zsofia Saunders, Edward J. Leongamornlert, Daniel A. Tymrakiewicz, Malgorzata Dadaev, Tokhir Jugurnauth-Little, Sarah Ross-Adams, Helen Al Olama, Ali Amin Benlloch, Sara Halim, Silvia Russel, Roslin Dunning, Alison M. Luccarini, Craig Dennis, Joe Neal, David E. Hamdy, Freddie C. Donovan, Jenny L. Muir, Ken Giles, Graham G. Severi, Gianluca Wiklund, Fredrik Gronberg, Henrik Haiman, Christopher A. Schumacher, Fredrick Henderson, Brian E. Le Marchand, Loic Lindstrom, Sara Kraft, Peter Hunter, David J. Gapstur, Susan Chanock, Stephen Berndt, Sonja I. Albanes, Demetrius Andriole, Gerald Schleutker, Johanna Weischer, Maren Canzian, Federico Riboli, Elio Key, Tim J. Travis, Ruth C. Campa, Daniele Ingles, Sue A. John, Esther M. Hayes, Richard B. Pharoah, Paul Khaw, Kay-Tee Stanford, Janet L. Ostrander, Elaine A. Signorello, Lisa B. Thibodeau, Stephen N. Schaid, Dan Maier, Christiane Vogel, Walther Kibel, Adam S. Cybulski, Cezary Lubinski, Jan Cannon-Albright, Lisa Brenner, Hermann Park, Jong Y. Kaneva, Radka Batra, Jyotsna Spurdle, Amanda Clements, Judith A. Teixeira, Manuel R. Govindasami, Koveela Guy, Michelle Wilkinson, Rosemary A. Sawyer, Emma J. Morgan, Angela Dicks, Ed Baynes, Caroline Conroy, Don Bojesen, Stig E. Kaaks, Rudolf Vincent, Daniel Bacot, François Tessier, Daniel C. Easton, Douglas F. Eeles, Rosalind A. |
| author_facet | Kote-Jarai, Zsofia Saunders, Edward J. Leongamornlert, Daniel A. Tymrakiewicz, Malgorzata Dadaev, Tokhir Jugurnauth-Little, Sarah Ross-Adams, Helen Al Olama, Ali Amin Benlloch, Sara Halim, Silvia Russel, Roslin Dunning, Alison M. Luccarini, Craig Dennis, Joe Neal, David E. Hamdy, Freddie C. Donovan, Jenny L. Muir, Ken Giles, Graham G. Severi, Gianluca Wiklund, Fredrik Gronberg, Henrik Haiman, Christopher A. Schumacher, Fredrick Henderson, Brian E. Le Marchand, Loic Lindstrom, Sara Kraft, Peter Hunter, David J. Gapstur, Susan Chanock, Stephen Berndt, Sonja I. Albanes, Demetrius Andriole, Gerald Schleutker, Johanna Weischer, Maren Canzian, Federico Riboli, Elio Key, Tim J. Travis, Ruth C. Campa, Daniele Ingles, Sue A. John, Esther M. Hayes, Richard B. Pharoah, Paul Khaw, Kay-Tee Stanford, Janet L. Ostrander, Elaine A. Signorello, Lisa B. Thibodeau, Stephen N. Schaid, Dan Maier, Christiane Vogel, Walther Kibel, Adam S. Cybulski, Cezary Lubinski, Jan Cannon-Albright, Lisa Brenner, Hermann Park, Jong Y. Kaneva, Radka Batra, Jyotsna Spurdle, Amanda Clements, Judith A. Teixeira, Manuel R. Govindasami, Koveela Guy, Michelle Wilkinson, Rosemary A. Sawyer, Emma J. Morgan, Angela Dicks, Ed Baynes, Caroline Conroy, Don Bojesen, Stig E. Kaaks, Rudolf Vincent, Daniel Bacot, François Tessier, Daniel C. Easton, Douglas F. Eeles, Rosalind A. |
| author_sort | Kote-Jarai, Zsofia |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-3658165 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2013 |
| publisher | Oxford University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-36581652013-05-20 Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression Kote-Jarai, Zsofia Saunders, Edward J. Leongamornlert, Daniel A. Tymrakiewicz, Malgorzata Dadaev, Tokhir Jugurnauth-Little, Sarah Ross-Adams, Helen Al Olama, Ali Amin Benlloch, Sara Halim, Silvia Russel, Roslin Dunning, Alison M. Luccarini, Craig Dennis, Joe Neal, David E. Hamdy, Freddie C. Donovan, Jenny L. Muir, Ken Giles, Graham G. Severi, Gianluca Wiklund, Fredrik Gronberg, Henrik Haiman, Christopher A. Schumacher, Fredrick Henderson, Brian E. Le Marchand, Loic Lindstrom, Sara Kraft, Peter Hunter, David J. Gapstur, Susan Chanock, Stephen Berndt, Sonja I. Albanes, Demetrius Andriole, Gerald Schleutker, Johanna Weischer, Maren Canzian, Federico Riboli, Elio Key, Tim J. Travis, Ruth C. Campa, Daniele Ingles, Sue A. John, Esther M. Hayes, Richard B. Pharoah, Paul Khaw, Kay-Tee Stanford, Janet L. Ostrander, Elaine A. Signorello, Lisa B. Thibodeau, Stephen N. Schaid, Dan Maier, Christiane Vogel, Walther Kibel, Adam S. Cybulski, Cezary Lubinski, Jan Cannon-Albright, Lisa Brenner, Hermann Park, Jong Y. Kaneva, Radka Batra, Jyotsna Spurdle, Amanda Clements, Judith A. Teixeira, Manuel R. Govindasami, Koveela Guy, Michelle Wilkinson, Rosemary A. Sawyer, Emma J. Morgan, Angela Dicks, Ed Baynes, Caroline Conroy, Don Bojesen, Stig E. Kaaks, Rudolf Vincent, Daniel Bacot, François Tessier, Daniel C. Easton, Douglas F. Eeles, Rosalind A. Hum Mol Genet Association Studies Articles 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. Oxford University Press 2013-06-15 2013-03-27 /pmc/articles/PMC3658165/ /pubmed/23535824 http://dx.doi.org/10.1093/hmg/ddt086 Text en © The Author 2013. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc/3.0/), which permits non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permission@oup.com |
| spellingShingle | Association Studies Articles Kote-Jarai, Zsofia Saunders, Edward J. Leongamornlert, Daniel A. Tymrakiewicz, Malgorzata Dadaev, Tokhir Jugurnauth-Little, Sarah Ross-Adams, Helen Al Olama, Ali Amin Benlloch, Sara Halim, Silvia Russel, Roslin Dunning, Alison M. Luccarini, Craig Dennis, Joe Neal, David E. Hamdy, Freddie C. Donovan, Jenny L. Muir, Ken Giles, Graham G. Severi, Gianluca Wiklund, Fredrik Gronberg, Henrik Haiman, Christopher A. Schumacher, Fredrick Henderson, Brian E. Le Marchand, Loic Lindstrom, Sara Kraft, Peter Hunter, David J. Gapstur, Susan Chanock, Stephen Berndt, Sonja I. Albanes, Demetrius Andriole, Gerald Schleutker, Johanna Weischer, Maren Canzian, Federico Riboli, Elio Key, Tim J. Travis, Ruth C. Campa, Daniele Ingles, Sue A. John, Esther M. Hayes, Richard B. Pharoah, Paul Khaw, Kay-Tee Stanford, Janet L. Ostrander, Elaine A. Signorello, Lisa B. Thibodeau, Stephen N. Schaid, Dan Maier, Christiane Vogel, Walther Kibel, Adam S. Cybulski, Cezary Lubinski, Jan Cannon-Albright, Lisa Brenner, Hermann Park, Jong Y. Kaneva, Radka Batra, Jyotsna Spurdle, Amanda Clements, Judith A. Teixeira, Manuel R. Govindasami, Koveela Guy, Michelle Wilkinson, Rosemary A. Sawyer, Emma J. Morgan, Angela Dicks, Ed Baynes, Caroline Conroy, Don Bojesen, Stig E. Kaaks, Rudolf Vincent, Daniel Bacot, François Tessier, Daniel C. Easton, Douglas F. Eeles, Rosalind A. Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression |
| title | Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression |
| title_full | Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression |
| title_fullStr | Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression |
| title_full_unstemmed | Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression |
| title_short | Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression |
| title_sort | fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with tert expression |
| topic | Association Studies Articles |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658165/ https://www.ncbi.nlm.nih.gov/pubmed/23535824 http://dx.doi.org/10.1093/hmg/ddt086 |
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