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1. Sex specific associations in genome wide association analysis of renal cell carcinoma

Author

Laskar, Ruhina S., Muller, David C., Li, Peng, Machiela, Mitchell J., Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N., Colli, Leandro, Sampson, Joshua N., Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G., Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Borje, Sitaram, Raviprakash T., Giles, Graham G., Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C., Wolk, Alicja, Banks, Rosamonde E., Selby, Peter J., Easton, Douglas F., Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E., Edwards, Todd L., Lipworth, Loren, Carol, Hallie, Freedman, Matthew L., Pomerantz, Mark M., Cho, Eunyoung, Kraft, Peter, Preston, Mark A., Wilson, Kathryn M., Michael Gaziano, J., Sesso, Howard D., Black, Amanda, Freedman, Neal D., Huang, Wen-Yi, Anema, John G., Kahnoski, Richard J., Lane, Brian R., Noyes, Sabrina L., Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L., Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E., Choueiri, Toni K., Wood, Christopher, Johansson, Mattias, McKay, James D., Brown, Kevin M., Rothman, Nathaniel, Lathrop, Mark G., Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen J., Purdue, Mark P., and Scelo, Ghislaine

Published
2019
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5. Sex specific associations in genome wide association analysis of renal cell carcinoma

Author

Laskar, Ruhina S, Muller, David C, Li, Peng, Machiela, Mitchell J, Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N, Colli, Leandro, Sampson, Joshua N, Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G, Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Börje, Tumkur Sitaram, Raviprakash, Giles, Graham G, Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Michael Gaziano, J, Sesso, Howard D, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E, Choueiri, Toni K, Wood, Christopher, Johansson, Mattias, McKay, James D, Brown, Kevin M, Rothman, Nathaniel, Lathrop, Mark G, Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen J, Purdue, Mark P, Scelo, Ghislaine, Laskar, Ruhina S, Muller, David C, Li, Peng, Machiela, Mitchell J, Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N, Colli, Leandro, Sampson, Joshua N, Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G, Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Börje, Tumkur Sitaram, Raviprakash, Giles, Graham G, Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Michael Gaziano, J, Sesso, Howard D, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E, Choueiri, Toni K, Wood, Christopher, Johansson, Mattias, McKay, James D, Brown, Kevin M, Rothman, Nathaniel, Lathrop, Mark G, Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen J, Purdue, Mark P, and Scelo, Ghislaine

Abstract

Renal cell carcinoma (RCC) has an undisputed genetic component and a stable 2:1 male to female sex ratio in its incidence across populations, suggesting possible sexual dimorphism in its genetic susceptibility. We conducted the first sex-specific genome-wide association analysis of RCC for men (3227 cases, 4916 controls) and women (1992 cases, 3095 controls) of European ancestry from two RCC genome-wide scans and replicated the top findings using an additional series of men (2261 cases, 5852 controls) and women (1399 cases, 1575 controls) from two independent cohorts of European origin. Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). We also identified two additional suggestive male-specific loci at 6q24.3 (SAMD5, male odds ratio (ORmale) = 0.83 [95% CI = 0.78-0.89], Pmale = 1.71 × 10-8 compared with female odds ratio (ORfemale) = 0.98 [95% CI = 0.90-1.07], Pfemale = 0.68) and 12q23.3 (intergenic, ORmale = 0.75 [95% CI = 0.68-0.83], Pmale = 1.59 × 10-8 compared with ORfemale = 0.93 [95% CI = 0.82-1.06], Pfemale = 0.21) that attained genome-wide significance in the joint meta-analysis. Herein, we provide evidence of sex-specific associations in RCC genetic susceptibility and advocate the necessity of larger genetic and genomic studies to unravel the endogenous causes of sex bias in sexually dimorphic traits and diseases like RCC.

Published
2019
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7. Corrigendum re 'Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma' : [Eur Urol 2017;72:747-54

Author

Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H B As, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, Purdue, Mark P, Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H B As, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, and Purdue, Mark P

Published
2018
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9. Genome-wide association study identifies multiple risk loci for renal cell carcinoma

Author

Scelo, Ghislaine, Purdue, Mark P, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Eckel-Passow, Jeanette E, Ye, Yuanqing, Hofmann, Jonathan N, Choi, Jiyeon, Foll, Matthieu, Gaborieau, Valerie, Machiela, Mitchell J, Colli, Leandro M, Li, Peng, Sampson, Joshua N, Abedi-Ardekani, Behnoush, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Chabrier, Amelie, Durand, Geoffroy, Le Calvez-Kelm, Florence, Prokhortchouk, Egor, Robinot, Nivonirina, Skryabin, Konstantin G, Wozniak, Magdalena B, Yeager, Meredith, Basta-Jovanovic, Gordana, Dzamic, Zoran, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Baglietto, Laura, Boeing, Heiner, Khaw, Kay-Tee, Weiderpass, Elisabete, Ljungberg, Borje, Sitaram, Raviprakash T, Bruinsma, Fiona, Jordan, Susan J, Severi, Gianluca, Winship, Ingrid, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Michael Gaziano, J, Sesso, Howard D, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Henrion, Marc, Larkin, James, Barman, Poulami, Leibovich, Bradley C, Choueiri, Toni K, Mark Lathrop, G, Rothman, Nathaniel, Deleuze, Jean-Francois, McKay, James D, Parker, Alexander S, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, and Chanock, Stephen J

Abstract

Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10-10), 3p22.1 (rs67311347, P=2.5 × 10-8), 3q26.2 (rs10936602, P=8.8 × 10-9), 8p21.3 (rs2241261, P=5.8 × 10-9), 10q24.33-q25.1 (rs11813268, P=3.9 × 10-8), 11q22.3 (rs74911261, P=2.1 × 10-10) and 14q24.2 (rs4903064, P=2.2 × 10-24). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.

Published
2017

11. Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

Author

Machiela, Mitchell J., primary, Hofmann, Jonathan N., additional, Carreras-Torres, Robert, additional, Brown, Kevin M., additional, Johansson, Mattias, additional, Wang, Zhaoming, additional, Foll, Matthieu, additional, Li, Peng, additional, Rothman, Nathaniel, additional, Savage, Sharon A., additional, Gaborieau, Valerie, additional, McKay, James D., additional, Ye, Yuanqing, additional, Henrion, Marc, additional, Bruinsma, Fiona, additional, Jordan, Susan, additional, Severi, Gianluca, additional, Hveem, Kristian, additional, Vatten, Lars J., additional, Fletcher, Tony, additional, Koppova, Kvetoslava, additional, Larsson, Susanna C., additional, Wolk, Alicja, additional, Banks, Rosamonde E., additional, Selby, Peter J., additional, Easton, Douglas F., additional, Pharoah, Paul, additional, Andreotti, Gabriella, additional, Freeman, Laura E. Beane, additional, Koutros, Stella, additional, Albanes, Demetrius, additional, Mannisto, Satu, additional, Weinstein, Stephanie, additional, Clark, Peter E., additional, Edwards, Todd E., additional, Lipworth, Loren, additional, Gapstur, Susan M., additional, Stevens, Victoria L., additional, Carol, Hallie, additional, Freedman, Matthew L., additional, Pomerantz, Mark M., additional, Cho, Eunyoung, additional, Kraft, Peter, additional, Preston, Mark A., additional, Wilson, Kathryn M., additional, Gaziano, J. Michael, additional, Sesso, Howard S., additional, Black, Amanda, additional, Freedman, Neal D., additional, Huang, Wen-Yi, additional, Anema, John G., additional, Kahnoski, Richard J., additional, Lane, Brian R., additional, Noyes, Sabrina L., additional, Petillo, David, additional, Colli, Leandro M., additional, Sampson, Joshua N., additional, Besse, Celine, additional, Blanche, Helene, additional, Boland, Anne, additional, Burdette, Laurie, additional, Prokhortchouk, Egor, additional, Skryabin, Konstantin G., additional, Yeager, Meredith, additional, Mijuskovic, Mirjana, additional, Ognjanovic, Miodrag, additional, Foretova, Lenka, additional, Holcatova, Ivana, additional, Janout, Vladimir, additional, Mates, Dana, additional, Mukeriya, Anush, additional, Rascu, Stefan, additional, Zaridze, David, additional, Bencko, Vladimir, additional, Cybulski, Cezary, additional, Fabianova, Eleonora, additional, Jinga, Viorel, additional, Lissowska, Jolanta, additional, Lubinski, Jan, additional, Navratilova, Marie, additional, Rudnai, Peter, additional, Szeszenia-Dabrowska, Neonila, additional, Benhamou, Simone, additional, Cancel-Tassin, Geraldine, additional, Cussenot, Olivier, additional, Bueno-de-Mesquita, H.B(as)., additional, Canzian, Federico, additional, Duell, Eric J., additional, Ljungberg, Börje, additional, Sitaram, Raviprakash T., additional, Peters, Ulrike, additional, White, Emily, additional, Anderson, Garnet L., additional, Johnson, Lisa, additional, Luo, Juhua, additional, Buring, Julie, additional, Lee, I-Min, additional, Chow, Wong-Ho, additional, Moore, Lee E., additional, Wood, Christopher, additional, Eisen, Timothy, additional, Larkin, James, additional, Choueiri, Toni K., additional, Lathrop, G. Mark, additional, Teh, Bin Tean, additional, Deleuze, Jean-Francois, additional, Wu, Xifeng, additional, Houlston, Richard S., additional, Brennan, Paul, additional, Chanock, Stephen J., additional, Scelo, Ghislaine, additional, and Purdue, Mark P., additional

Published
2018
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12. Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma

Author

Machiela, Mitchell J., primary, Hofmann, Jonathan N., additional, Carreras-Torres, Robert, additional, Brown, Kevin M., additional, Johansson, Mattias, additional, Wang, Zhaoming, additional, Foll, Matthieu, additional, Li, Peng, additional, Rothman, Nathaniel, additional, Savage, Sharon A., additional, Gaborieau, Valerie, additional, McKay, James D., additional, Ye, Yuanqing, additional, Henrion, Marc, additional, Bruinsma, Fiona, additional, Jordan, Susan, additional, Severi, Gianluca, additional, Hveem, Kristian, additional, Vatten, Lars J., additional, Fletcher, Tony, additional, Koppova, Kvetoslava, additional, Larsson, Susanna C., additional, Wolk, Alicja, additional, Banks, Rosamonde E., additional, Selby, Peter J., additional, Easton, Douglas F., additional, Pharoah, Paul, additional, Andreotti, Gabriella, additional, Freeman, Laura E. Beane, additional, Koutros, Stella, additional, Albanes, Demetrius, additional, Mannisto, Satu, additional, Weinstein, Stephanie, additional, Clark, Peter E., additional, Edwards, Todd E., additional, Lipworth, Loren, additional, Gapstur, Susan M., additional, Stevens, Victoria L., additional, Carol, Hallie, additional, Freedman, Matthew L., additional, Pomerantz, Mark M., additional, Cho, Eunyoung, additional, Kraft, Peter, additional, Preston, Mark A., additional, Wilson, Kathryn M., additional, Gaziano, J. Michael, additional, Sesso, Howard S., additional, Black, Amanda, additional, Freedman, Neal D., additional, Huang, Wen-Yi, additional, Anema, John G., additional, Kahnoski, Richard J., additional, Lane, Brian R., additional, Noyes, Sabrina L., additional, Petillo, David, additional, Colli, Leandro M., additional, Sampson, Joshua N., additional, Besse, Celine, additional, Blanche, Helene, additional, Boland, Anne, additional, Burdette, Laurie, additional, Prokhortchouk, Egor, additional, Skryabin, Konstantin G., additional, Yeager, Meredith, additional, Mijuskovic, Mirjana, additional, Ognjanovic, Miodrag, additional, Foretova, Lenka, additional, Holcatova, Ivana, additional, Janout, Vladimir, additional, Mates, Dana, additional, Mukeriya, Anush, additional, Rascu, Stefan, additional, Zaridze, David, additional, Bencko, Vladimir, additional, Cybulski, Cezary, additional, Fabianova, Eleonora, additional, Jinga, Viorel, additional, Lissowska, Jolanta, additional, Lubinski, Jan, additional, Navratilova, Marie, additional, Rudnai, Peter, additional, Szeszenia-Dabrowska, Neonila, additional, Benhamou, Simone, additional, Cancel-Tassin, Geraldine, additional, Cussenot, Olivier, additional, Bueno-de-Mesquita, H. Bas, additional, Canzian, Federico, additional, Duell, Eric J., additional, Ljungberg, Börje, additional, Sitaram, Raviprakash T., additional, Peters, Ulrike, additional, White, Emily, additional, Anderson, Garnet L., additional, Johnson, Lisa, additional, Luo, Juhua, additional, Buring, Julie, additional, Lee, I-Min, additional, Chow, Wong-Ho, additional, Moore, Lee E., additional, Wood, Christopher, additional, Eisen, Timothy, additional, Larkin, James, additional, Choueiri, Toni K., additional, Lathrop, G. Mark, additional, Teh, Bin Tean, additional, Deleuze, Jean-Francois, additional, Wu, Xifeng, additional, Houlston, Richard S., additional, Brennan, Paul, additional, Chanock, Stephen J., additional, Scelo, Ghislaine, additional, and Purdue, Mark P., additional

Published
2017
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14. Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma.

Author

Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H Bas, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, Purdue, Mark P, Machiela, Mitchell J, Hofmann, Jonathan N, Carreras-Torres, Robert, Brown, Kevin M, Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A, Gaborieau, Valerie, McKay, James D, Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd E, Lipworth, Loren, Gapstur, Susan M, Stevens, Victoria L, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Gaziano, J Michael, Sesso, Howard S, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Colli, Leandro M, Sampson, Joshua N, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G, Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H Bas, Canzian, Federico, Duell, Eric J, Ljungberg, Börje, Sitaram, Raviprakash T, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E, Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K, Lathrop, G Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S, Brennan, Paul, Chanock, Stephen J, Scelo, Ghislaine, and Purdue, Mark P

Abstract

BACKGROUND: Relative telomere length in peripheral blood leukocytes has been evaluated as a potential biomarker for renal cell carcinoma (RCC) risk in several studies, with conflicting findings. OBJECTIVE: We performed an analysis of genetic variants associated with leukocyte telomere length to assess the relationship between telomere length and RCC risk using Mendelian randomization, an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations. DESIGN, SETTING, AND PARTICIPANTS: Genotypes from nine telomere length-associated variants for 10 784 cases and 20 406 cancer-free controls from six genome-wide association studies (GWAS) of RCC were aggregated into a weighted genetic risk score (GRS) predictive of leukocyte telomere length. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Odds ratios (ORs) relating the GRS and RCC risk were computed in individual GWAS datasets and combined by meta-analysis. RESULTS AND LIMITATIONS: Longer genetically inferred telomere length was associated with an increased risk of RCC (OR=2.07 per predicted kilobase increase, 95% confidence interval [CI]:=1.70-2.53, p<0.0001). As a sensitivity analysis, we excluded two telomere length variants in linkage disequilibrium (R2>0.5) with GWAS-identified RCC risk variants (rs10936599 and rs9420907) from the telomere length GRS; despite this exclusion, a statistically significant association between the GRS and RCC risk persisted (OR=1.73, 95% CI=1.36-2.21, p<0.0001). Exploratory analyses for individual histologic subtypes suggested comparable associations with the telomere length GRS for clear cell (N=5573, OR=1.93, 95% CI=1.50-2.49, p<0.0001), papillary (N=573, OR=1.96, 95% CI=1.01-3.81, p=0.046), and chromophobe RCC (N=203, OR=2.37, 95% CI=0.78-7.17, p=0.13). CONCLUSIONS: Our investigation adds to the growing body of evidence indicating some aspect of longer telomere length is important for RCC risk. PATIENT SUMMARY

Published
2017
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15. Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas

Author

Cutcutache, Ioana, primary, Suzuki, Yuka, additional, Tan, Iain Beehuat, additional, Ramgopal, Subhashini, additional, Zhang, Shenli, additional, Ramnarayanan, Kalpana, additional, Gan, Anna, additional, Lee, Heng Hong, additional, Tay, Su Ting, additional, Ooi, Aikseng, additional, Ong, Choon Kiat, additional, Bolthouse, Jonathan T., additional, Lane, Brian R., additional, Anema, John G., additional, Kahnoski, Richard J., additional, Tan, Patrick, additional, Teh, Bin Tean, additional, and Rozen, Steven G., additional

Published
2015
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19. Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

Author

Scelo G, Purdue MP, Brown KM, Johansson M, Wang Z, Eckel-Passow JE, Ye Y, Hofmann JN, Choi J, Foll M, Gaborieau V, Machiela MJ, Colli LM, Li P, Sampson JN, Abedi-Ardekani B, Besse C, Blanche H, Boland A, Burdette L, Chabrier A, Durand G, Le Calvez-Kelm F, Prokhortchouk E, Robinot N, Skryabin KG, Wozniak MB, Yeager M, Basta-Jovanovic G, Dzamic Z, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Baglietto L, Boeing H, Khaw KT, Weiderpass E, Ljungberg B, Sitaram RT, Bruinsma F, Jordan SJ, Severi G, Winship I, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Männistö S, Weinstein S, Clark PE, Edwards TL, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Michael Gaziano J, Sesso HD, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Teh BT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Henrion M, Larkin J, Barman P, Leibovich BC, Choueiri TK, Mark Lathrop G, Rothman N, Deleuze JF, McKay JD, Parker AS, Wu X, Houlston RS, Brennan P, and Chanock SJ

Subjects
Adolescent, Adult, Aged, Female, Genetic Loci, Germ-Line Mutation, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, White People genetics, Young Adult, Carcinoma, Renal Cell genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Kidney Neoplasms genetics
Abstract

Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10 -10 ), 3p22.1 (rs67311347, P=2.5 × 10 -8 ), 3q26.2 (rs10936602, P=8.8 × 10 -9 ), 8p21.3 (rs2241261, P=5.8 × 10 -9 ), 10q24.33-q25.1 (rs11813268, P=3.9 × 10 -8 ), 11q22.3 (rs74911261, P=2.1 × 10 -10 ) and 14q24.2 (rs4903064, P=2.2 × 10 -24 ). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.

Published
2017
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