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3. Comparison of functional variants in IFNL4 and IFNL3 for association with HCV clearance

Author

O’Brien, Thomas R, Pfeiffer, Ruth M, Paquin, Ashley, Kuhs, Krystle A Lang, Chen, Sabrina, Bonkovsky, Herbert L, Edlin, Brian R, Howell, Charles D, Kirk, Gregory D, Kuniholm, Mark H, Morgan, Timothy R, Strickler, Howard D, Thomas, David L, and Prokunina-Olsson, Ludmila

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Chronic Liver Disease and Cirrhosis, Hepatitis - C, Emerging Infectious Diseases, Digestive Diseases, Genetics, Hepatitis, Infectious Diseases, Liver Disease, Good Health and Well Being, Alleles, Antiviral Agents, Female, Genotype, Hepacivirus, Hepatitis C, Chronic, Humans, Interferons, Interleukins, Male, Middle Aged, Polymorphism, Genetic, RNA, Viral, IFNL3, IFNL4, IL28B, Innate immunity, Interferon lambda, Treatment, Viral clearance, Public Health and Health Services, Gastroenterology & Hepatology, Clinical sciences
Abstract

Background & aimsGenetic polymorphisms within the interferon lambda (IFN-λ) region are strongly associated with hepatitis C virus (HCV) clearance; the IFNL4-ΔG/TT (rs368234815) polymorphism, which controls the generation of IFN-λ4 protein, is more strongly associated with HCV clearance than rs12979860 (the 'IL28B variant'). An IFNL3 3' untranslated region polymorphism (rs4803217) has been proposed as a causal variant that may affect HCV clearance by altering IFNL3 mRNA stability.MethodsWe compared IFNL4-ΔG/TT and rs4803217 for association with response to pegylated-IFN-α/ribavirin in the VIRAHEP-C and HALT-C trials, and spontaneous HCV clearance in the ALIVE, UHS and WIHS studies. Genotyping was performed with TaqMan assays. We compared differences in mean reduction in HCV RNA levels by genotype and haplotype. For HCV clearance, we calculated p-values comparing c-statistics for IFNL4-ΔG/TT and rs4803217 genotypes by a bootstrap approach.ResultsAmong European Americans, linkage disequilibrium between IFNL4-ΔG/TT and rs4803217 was strong (r(2)=0.89-0.99) and there were no significant differences between the variants. In African American (AA) individuals enrolled in VIRAHEP-C, HCV RNA at treatment day 28 was more strongly associated with IFNL4-ΔG/TT than rs4803217 (p=0.003); the IFNL4-ΔG:rs4803217-G haplotype, which includes the putatively favorable IFNL3 allele, was actually associated with the poorest day 28 response (p=0.03, comparison to IFNL4-ΔG:rs4803217-T haplotype). Among AA participants, associations were stronger for IFNL4-ΔG/TT than rs4803217 for undetectable HCV RNA at week 24 in Virahep-C (p=0.03) and week 20 in HALT-C (p=0.03), as well as for spontaneous HCV clearance (p=0.048).ConclusionIFNL4-ΔG/TT is the primary IFN-λ region polymorphism for impaired HCV clearance.

Published
2015

4. Characteristics of exceptional responders to autologous stem cell transplantation in multiple myeloma

Author

Paquin, Ashley, Visram, Alissa, Kumar, Shaji K., Gertz, Morie A., Cantwell, Hafsa, Buadi, Francis K., Lacy, Martha Q., Dispenzieri, Angela, Dingli, David, Hwa, Lisa, Fonder, Amie, Hobbs, Miriam, Hayman, Suzanne R., Lust, John A., Russell, Stephen J., Leung, Nelson, Kapoor, Prashant, Go, Ronald S., Lin, Yi, Gonsalves, Wilson I., Kourelis, Taxiarchis, Warsame, Rahma, Kyle, Robert A., and Rajkumar, S. Vincent

Published
2020
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5. Data from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, primary, Moore, Lee E., primary, Lenz, Petra, primary, Figueroa, Jonine D., primary, Tang, Wei, primary, Porter-Gill, Patricia, primary, Chatterjee, Nilanjan, primary, Scott-Johnson, Alexandra, primary, Garcia-Closas, Montserrat, primary, Muchmore, Brian, primary, Baris, Dalsu, primary, Paquin, Ashley, primary, Ylaya, Kris, primary, Schwenn, Molly, primary, Apolo, Andrea B., primary, Karagas, Margaret R., primary, Tarway, McAnthony, primary, Johnson, Alison, primary, Mumy, Adam, primary, Schned, Alan, primary, Guedez, Liliana, primary, Jones, Michael A., primary, Kida, Masatoshi, primary, Hosain, GM Monawar, primary, Malats, Nuria, primary, Kogevinas, Manolis, primary, Tardon, Adonina, primary, Serra, Consol, primary, Carrato, Alfredo, primary, Garcia-Closas, Reina, primary, Lloreta, Josep, primary, Wu, Xifeng, primary, Purdue, Mark, primary, Andriole, Gerald L., primary, Grubb, Robert L., primary, Black, Amanda, primary, Landi, Maria T., primary, Caporaso, Neil E., primary, Vineis, Paolo, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H. Bas, primary, Trichopoulos, Dimitrios, primary, Ljungberg, Börje, primary, Severi, Gianluca, primary, Weiderpass, Elisabete, primary, Krogh, Vittorio, primary, Dorronsoro, Miren, primary, Travis, Ruth C., primary, Tjønneland, Anne, primary, Brennan, Paul, primary, Chang-Claude, Jenny, primary, Riboli, Elio, primary, Prescott, Jennifer, primary, Chen, Constance, primary, De Vivo, Immaculata, primary, Govannucci, Edward, primary, Hunter, David, primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Gapstur, Susan M., primary, Jacobs, Eric J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Virtamo, Jarmo, primary, Kooperberg, Charles, primary, Hohensee, Chancellor, primary, Rodabough, Rebecca J., primary, Cortessis, Victoria K., primary, Conti, David V., primary, Gago-Dominguez, Manuela, primary, Stern, Mariana C., primary, Pike, Malcolm C., primary, Van Den Berg, David, primary, Yuan, Jian-Min, primary, Haiman, Christopher A., primary, Cussenot, Olivier, primary, Cancel-Tassin, Geraldine, primary, Roupret, Morgan, primary, Comperat, Eva, primary, Porru, Stefano, primary, Carta, Angela, primary, Pavanello, Sofia, primary, Arici, Cecilia, primary, Mastrangelo, Giuseppe, primary, Grossman, H. Barton, primary, Wang, Zhaoming, primary, Deng, Xiang, primary, Chung, Charles C., primary, Hutchinson, Amy, primary, Burdette, Laurie, primary, Wheeler, William, primary, Fraumeni, Joseph, primary, Chanock, Stephen J., primary, Hewitt, Stephen M., primary, Silverman, Debra T., primary, Rothman, Nathaniel, primary, and Prokunina-Olsson, Ludmila, primary

Published
2023
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6. Supplementary Materials, Figures 1 - 3, Tables 1 - 4, 6 - 8 from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, primary, Moore, Lee E., primary, Lenz, Petra, primary, Figueroa, Jonine D., primary, Tang, Wei, primary, Porter-Gill, Patricia, primary, Chatterjee, Nilanjan, primary, Scott-Johnson, Alexandra, primary, Garcia-Closas, Montserrat, primary, Muchmore, Brian, primary, Baris, Dalsu, primary, Paquin, Ashley, primary, Ylaya, Kris, primary, Schwenn, Molly, primary, Apolo, Andrea B., primary, Karagas, Margaret R., primary, Tarway, McAnthony, primary, Johnson, Alison, primary, Mumy, Adam, primary, Schned, Alan, primary, Guedez, Liliana, primary, Jones, Michael A., primary, Kida, Masatoshi, primary, Hosain, GM Monawar, primary, Malats, Nuria, primary, Kogevinas, Manolis, primary, Tardon, Adonina, primary, Serra, Consol, primary, Carrato, Alfredo, primary, Garcia-Closas, Reina, primary, Lloreta, Josep, primary, Wu, Xifeng, primary, Purdue, Mark, primary, Andriole, Gerald L., primary, Grubb, Robert L., primary, Black, Amanda, primary, Landi, Maria T., primary, Caporaso, Neil E., primary, Vineis, Paolo, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H. Bas, primary, Trichopoulos, Dimitrios, primary, Ljungberg, Börje, primary, Severi, Gianluca, primary, Weiderpass, Elisabete, primary, Krogh, Vittorio, primary, Dorronsoro, Miren, primary, Travis, Ruth C., primary, Tjønneland, Anne, primary, Brennan, Paul, primary, Chang-Claude, Jenny, primary, Riboli, Elio, primary, Prescott, Jennifer, primary, Chen, Constance, primary, De Vivo, Immaculata, primary, Govannucci, Edward, primary, Hunter, David, primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Gapstur, Susan M., primary, Jacobs, Eric J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Virtamo, Jarmo, primary, Kooperberg, Charles, primary, Hohensee, Chancellor, primary, Rodabough, Rebecca J., primary, Cortessis, Victoria K., primary, Conti, David V., primary, Gago-Dominguez, Manuela, primary, Stern, Mariana C., primary, Pike, Malcolm C., primary, Van Den Berg, David, primary, Yuan, Jian-Min, primary, Haiman, Christopher A., primary, Cussenot, Olivier, primary, Cancel-Tassin, Geraldine, primary, Roupret, Morgan, primary, Comperat, Eva, primary, Porru, Stefano, primary, Carta, Angela, primary, Pavanello, Sofia, primary, Arici, Cecilia, primary, Mastrangelo, Giuseppe, primary, Grossman, H. Barton, primary, Wang, Zhaoming, primary, Deng, Xiang, primary, Chung, Charles C., primary, Hutchinson, Amy, primary, Burdette, Laurie, primary, Wheeler, William, primary, Fraumeni, Joseph, primary, Chanock, Stephen J., primary, Hewitt, Stephen M., primary, Silverman, Debra T., primary, Rothman, Nathaniel, primary, and Prokunina-Olsson, Ludmila, primary

Published
2023
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7. Supplementary Table 5 from The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, primary, Moore, Lee E., primary, Lenz, Petra, primary, Figueroa, Jonine D., primary, Tang, Wei, primary, Porter-Gill, Patricia, primary, Chatterjee, Nilanjan, primary, Scott-Johnson, Alexandra, primary, Garcia-Closas, Montserrat, primary, Muchmore, Brian, primary, Baris, Dalsu, primary, Paquin, Ashley, primary, Ylaya, Kris, primary, Schwenn, Molly, primary, Apolo, Andrea B., primary, Karagas, Margaret R., primary, Tarway, McAnthony, primary, Johnson, Alison, primary, Mumy, Adam, primary, Schned, Alan, primary, Guedez, Liliana, primary, Jones, Michael A., primary, Kida, Masatoshi, primary, Hosain, GM Monawar, primary, Malats, Nuria, primary, Kogevinas, Manolis, primary, Tardon, Adonina, primary, Serra, Consol, primary, Carrato, Alfredo, primary, Garcia-Closas, Reina, primary, Lloreta, Josep, primary, Wu, Xifeng, primary, Purdue, Mark, primary, Andriole, Gerald L., primary, Grubb, Robert L., primary, Black, Amanda, primary, Landi, Maria T., primary, Caporaso, Neil E., primary, Vineis, Paolo, primary, Siddiq, Afshan, primary, Bueno-de-Mesquita, H. Bas, primary, Trichopoulos, Dimitrios, primary, Ljungberg, Börje, primary, Severi, Gianluca, primary, Weiderpass, Elisabete, primary, Krogh, Vittorio, primary, Dorronsoro, Miren, primary, Travis, Ruth C., primary, Tjønneland, Anne, primary, Brennan, Paul, primary, Chang-Claude, Jenny, primary, Riboli, Elio, primary, Prescott, Jennifer, primary, Chen, Constance, primary, De Vivo, Immaculata, primary, Govannucci, Edward, primary, Hunter, David, primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Gapstur, Susan M., primary, Jacobs, Eric J., primary, Diver, W. Ryan, primary, Albanes, Demetrius, primary, Weinstein, Stephanie J., primary, Virtamo, Jarmo, primary, Kooperberg, Charles, primary, Hohensee, Chancellor, primary, Rodabough, Rebecca J., primary, Cortessis, Victoria K., primary, Conti, David V., primary, Gago-Dominguez, Manuela, primary, Stern, Mariana C., primary, Pike, Malcolm C., primary, Van Den Berg, David, primary, Yuan, Jian-Min, primary, Haiman, Christopher A., primary, Cussenot, Olivier, primary, Cancel-Tassin, Geraldine, primary, Roupret, Morgan, primary, Comperat, Eva, primary, Porru, Stefano, primary, Carta, Angela, primary, Pavanello, Sofia, primary, Arici, Cecilia, primary, Mastrangelo, Giuseppe, primary, Grossman, H. Barton, primary, Wang, Zhaoming, primary, Deng, Xiang, primary, Chung, Charles C., primary, Hutchinson, Amy, primary, Burdette, Laurie, primary, Wheeler, William, primary, Fraumeni, Joseph, primary, Chanock, Stephen J., primary, Hewitt, Stephen M., primary, Silverman, Debra T., primary, Rothman, Nathaniel, primary, and Prokunina-Olsson, Ludmila, primary

Published
2023
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8. Overall survival of transplant eligible patients with newly diagnosed multiple myeloma: comparative effectiveness analysis of modern induction regimens on outcome

Author

Paquin, Ashley R., Kumar, Shaji K., Buadi, Francis K., Gertz, Morie A., Lacy, Martha Q., Dispenzieri, Angela, Dingli, David, Hwa, Lisa, Fonder, Amie, Hobbs, Miriam, Hayman, Suzanne R., Zeldenrust, Steven R., Lust, John A., Russell, Stephen J., Leung, Nelson, Kapoor, Prashant, Go, Ronald S., Lin, Yi, Gonsalves, Wilson I., Kourelis, Taxiarchis, Warsame, Rahma, Kyle, Robert A., and Rajkumar, S. Vincent

Published
2018
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11. Modification of Occupational Exposures on Bladder Cancer Risk by Common Genetic Polymorphisms

Author

Figueroa, Jonine D., Koutros, Stella, Colt, Joanne S., Kogevinas, Manolis, Garcia-Closas, Montserrat, Real, Francisco X., Friesen, Melissa C., Baris, Dalsu, Stewart, Patricia, Schwenn, Molly, Johnson, Alison, Karagas, Margaret R., Armenti, Karla R., Moore, Lee E., Schned, Alan, Lenz, Petra, Prokunina-Olsson, Ludmila, Banday, A. Rouf, Paquin, Ashley, Ylaya, Kris, Chung, Joon-Yong, Hewitt, Stephen M., Nickerson, Michael L., Tardón, Adonina, Serra, Consol, Carrato, Alfredo, García-Closas, Reina, Lloreta, Josep, Malats, Núria, Fraumeni, Joseph F., Jr., Chanock, Stephen J., Chatterjee, Nilanjan, Rothman, Nathaniel, and Silverman, Debra T.

Published
2015
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13. The diagnosis and management of suspected lymphoma in general practice.

Author

Paquin, Ashley R., Oyogoa, Emmanuella, McMurry, Hannah Stowe, Kartika, Thomas, West, Malinda, and Shatzel, Joseph J.

Subjects
*BLOOD cell count, *LYMPHOMAS, *BLOOD flow, *SYMPTOMS
Abstract

With rapid advancements in diagnosis and treatment of malignancies, the gap between generalists and subspecialists continues to widen, particularly in cancers like lymphoma where the spectrum of disease varies from indolent to rapidly progressive. Prior to establishing with a hematologist/oncologist, patients must be accurately and comprehensively diagnosed and managed for lymphoma in the generalist setting. In the following manuscript, we review the common clinical presentations in which should raise concern for lymphoma. We summarize the literature regarding the role of laboratory studies including complete blood count and peripheral blood flow cytometry, the recommendations for lymph node sampling, the role and selection of imaging modalities, and ideal patient monitoring for high‐risk clinical syndromes that may be encountered in lymphoma. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Characterization of Exceptional Responders to Autologous Stem Cell Transplantation in Multiple Myeloma

Author

Paquin, Ashley, primary, Gertz, Morie A., additional, Chaudhry, Hafsa, additional, Kumar, Shaji K., additional, Buadi, Francis K., additional, Dispenzieri, Angela, additional, Dingli, David, additional, Hwa, Yi, additional, Fonder, Amie, additional, Hobbs, Miriam, additional, Hayman, Suzanne R., additional, Zeldenrust, Steven, additional, Lust, John A., additional, Russell, Stephen J., additional, Leung, Nelson, additional, Kapoor, Prashant, additional, Go, Ronald S., additional, Lin, Yi, additional, Gonsalves, Wilson I, additional, Kourelis, Taxiarchis, additional, Warsame, Rahma, additional, Kyle, Robert A., additional, and Rajkumar, S. Vincent, additional

Published
2018
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16. Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors

Author

Middlebrooks, Candace D, primary, Banday, A Rouf, additional, Matsuda, Konichi, additional, Udquim, Krizia-Ivana, additional, Onabajo, Olusegun O, additional, Paquin, Ashley, additional, Figueroa, Jonine D, additional, Zhu, Bin, additional, Koutros, Stella, additional, Kubo, Michiaki, additional, Shuin, Taro, additional, Freedman, Neal D, additional, Kogevinas, Manolis, additional, Malats, Nuria, additional, Chanock, Stephen J, additional, Garcia-Closas, Montserrat, additional, Silverman, Debra T, additional, Rothman, Nathaniel, additional, and Prokunina-Olsson, Ludmila, additional

Published
2016
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17. The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping Kohaar, Indu Moore, Lee E. Lenz, Petra and Figueroa, Jonine D. Tang, Wei Porter-Gill, Patricia and Chatterjee, Nilanjan Scott-Johnson, Alexandra Garcia-Closas, Montserrat Muchmore, Brian Baris, Dalsu Paquin, Ashley and Ylaya, Kris Schwenn, Molly Apolo, Andrea B. Karagas, Margaret R. Tarway, McAnthony Johnson, Alison Mumy, Adam and Schned, Alan Guedez, Liliana Jones, Michael A. Kida, Masatoshi Hosain, G. M. Monawar Malats, Nuria Kogevinas, Manolis Tardon, Adonina Serra, Consol Carrato, Alfredo and Garcia-Closas, Reina Lloreta, Josep Wu, Xifeng Purdue, Mark and Andriole, Jr., Gerald L. Grubb, III, Robert L. Black, Amanda and Landi, Maria T. Caporaso, Neil E. Vineis, Paolo Siddiq, Afshan Bueno-de-Mesquita, H. Bas Trichopoulos, Dimitrios and Ljungberg, Boerje Severi, Gianluca Weiderpass, Elisabete and Krogh, Vittorio Dorronsoro, Miren Travis, Ruth C. and Tjonneland, Anne Brennan, Paul Chang-Claude, Jenny Riboli, Elio Prescott, Jennifer Chen, Constance De Vivo, Immaculata and Govannucci, Edward Hunter, David Kraft, Peter Lindstrom, Sara Gapstur, Susan M. Jacobs, Eric J. Diver, W. Ryan and Albanes, Demetrius Weinstein, Stephanie J. Virtamo, Jarmo and Kooperberg, Charles Hohensee, Chancellor Rodabough, Rebecca J. and Cortessis, Victoria K. Conti, David V. Gago-Dominguez, Manuela Stern, Mariana C. Pike, Malcolm C. Van Den Berg, David Yuan, Jian-Min Haiman, Christopher A. Cussenot, Olivier Cancel-Tassin, Geraldine Roupret, Morgan Comperat, Eva Porru, Stefano Carta, Angela Pavanello, Sofia Arici, Cecilia Mastrangelo, Giuseppe Grossman, H. Barton Wang, Zhaoming Deng, Xiang Chung, Charles C. Hutchinson, Amy and Burdette, Laurie Wheeler, William Fraumeni, Jr., Joseph and Chanock, Stephen J. Hewitt, Stephen M. Silverman, Debra T. and Rothman, Nathaniel Prokunina-Olsson, Ludmila

Abstract

A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell-cycle protein. We performed genetic fine-mapping analysis of the CCNE1 region using data from two bladder cancer GWAS (5,942 cases and 10,857 controls). We found that the original GWAS marker rs8102137 represents a group of 47 linked SNPs (with r(2) >= 0.7) associated with increased bladder cancer risk. From this group, we selected a functional promoter variant rs7257330, which showed strong allele-specific binding of nuclear proteins in several cell lines. In both GWASs, rs7257330 was associated only with aggressive bladder cancer, with a combined per-allele OR = 1.18 [95% confidence interval (CI), 1.09-1.27, P = 4.67 x 10(-5)] versus OR = 1.01 (95% CI, 0.93-1.10, P = 0.79) for nonaggressive disease, with P = 0.0015 for case-only analysis. Cyclin E protein expression analyzed in 265 bladder tumors was increased in aggressive tumors (P = 0.013) and, independently, with each rs7257330-A risk allele (P-trend = 0.024). Overexpression of recombinant cyclin E in cell lines caused significant acceleration of cell cycle. In conclusion, we defined the 19q12 signal as the first GWAS signal specific for aggressive bladder cancer. Molecular mechanisms of this genetic association may be related to cyclin E overexpression and alteration of cell cycle in carriers of CCNE1 risk variants. In combination with established bladder cancer risk factors and other somatic and germline genetic markers, the CCNE1 variants could be useful for inclusion into bladder cancer risk prediction models. (C) 2014 AACR.

Published
2014

20. ID: 89

Author

O’Brien, Thomas, primary, Pfeiffer, Ruth, additional, Paquin, Ashley, additional, Kuhs, Krystle Lang, additional, Chen, Sabrina, additional, Howell, Charles, additional, and Prokunina-Olsson, Ludmila, additional

Published
2015
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23. Overall Survival of Transplant Eligible Patients with Newly Diagnosed Multiple Myeloma: Comparative Effectiveness Analysis of Modern Induction Regimens on Outcome

Author

Paquin, Ashley, Kumar, Shaji K, Buadi, Francis K, Gertz, Morie A., Lacy, Martha Q, Dispenzieri, Angela, Dingli, David, Hwa, Lisa, Fonder, Amie, Hobbs, Miriam, Hayman, Suzanne R., Zeldenrust, Steven, Lust, John A., Russell, Stephen J., Leung, Nelson, Kapoor, Prashant, Go, Ronald S, Lin, Yi, Gonsalves, Wilson I, Kourelis, Taxiarchis, Warsame, Rahma, Kyle, Robert A, and Rajkumar, S. Vincent

Published
2017
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24. The 19q12 Bladder Cancer GWAS Signal : Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, Kohaar, Indu, Moore, Lee E., Lenz, Petra, Figueroa, Jonine D., Tang, Wei, Porter-Gill, Patricia, Chatterjee, Nilanjan, Scott-Johnson, Alexandra, Garcia-Closas, Montserrat, Muchmore, Brian, Baris, Dalsu, Paquin, Ashley, Ylaya, Kris, Schwenn, Molly, Apolo, Andrea B., Karagas, Margaret R., Tarway, McAnthony, Johnson, Alison, Mumy, Adam, Schned, Alan, Guedez, Liliana, Jones, Michael A., Kida, Masatoshi, Hosain, G. M. Monawar, Malats, Nuria, Kogevinas, Manolis, Tardon, Adonina, Serra, Consol, Carrato, Alfredo, Garcia-Closas, Reina, Lloreta, Josep, Wu, Xifeng, Purdue, Mark, Andriole, Gerald L., Jr., Grubb, Robert L., III, Black, Amanda, Landi, Maria T., Caporaso, Neil E., Vineis, Paolo, Siddiq, Afshan, Bueno-de-Mesquita, H. Bas, Trichopoulos, Dimitrios, Ljungberg, Börje, Severi, Gianluca, Weiderpass, Elisabete, Krogh, Vittorio, Dorronsoro, Miren, Travis, Ruth C., Tjonneland, Anne, Brennan, Paul, Chang-Claude, Jenny, Riboli, Elio, Prescott, Jennifer, Chen, Constance, De Vivo, Immaculata, Govannucci, Edward, Hunter, David, Kraft, Peter, Lindstrom, Sara, Gapstur, Susan M., Jacobs, Eric J., Diver, W. Ryan, Albanes, Demetrius, Weinstein, Stephanie J., Virtamo, Jarmo, Kooperberg, Charles, Hohensee, Chancellor, Rodabough, Rebecca J., Cortessis, Victoria K., Conti, David V., Gago-Dominguez, Manuela, Stern, Mariana C., Pike, Malcolm C., Van Den Berg, David, Yuan, Jian-Min, Haiman, Christopher A., Cussenot, Olivier, Cancel-Tassin, Geraldine, Roupret, Morgan, Comperat, Eva, Porru, Stefano, Carta, Angela, Pavanello, Sofia, Arici, Cecilia, Mastrangelo, Giuseppe, Grossman, H. Barton, Wang, Zhaoming, Deng, Xiang, Chung, Charles C., Hutchinson, Amy, Burdette, Laurie, Wheeler, William, Fraumeni, Joseph, Jr., Chanock, Stephen J., Hewitt, Stephen M., Silverman, Debra T., Rothman, Nathaniel, Prokunina-Olsson, Ludmila, Fu, Yi-Ping, Kohaar, Indu, Moore, Lee E., Lenz, Petra, Figueroa, Jonine D., Tang, Wei, Porter-Gill, Patricia, Chatterjee, Nilanjan, Scott-Johnson, Alexandra, Garcia-Closas, Montserrat, Muchmore, Brian, Baris, Dalsu, Paquin, Ashley, Ylaya, Kris, Schwenn, Molly, Apolo, Andrea B., Karagas, Margaret R., Tarway, McAnthony, Johnson, Alison, Mumy, Adam, Schned, Alan, Guedez, Liliana, Jones, Michael A., Kida, Masatoshi, Hosain, G. M. Monawar, Malats, Nuria, Kogevinas, Manolis, Tardon, Adonina, Serra, Consol, Carrato, Alfredo, Garcia-Closas, Reina, Lloreta, Josep, Wu, Xifeng, Purdue, Mark, Andriole, Gerald L., Jr., Grubb, Robert L., III, Black, Amanda, Landi, Maria T., Caporaso, Neil E., Vineis, Paolo, Siddiq, Afshan, Bueno-de-Mesquita, H. Bas, Trichopoulos, Dimitrios, Ljungberg, Börje, Severi, Gianluca, Weiderpass, Elisabete, Krogh, Vittorio, Dorronsoro, Miren, Travis, Ruth C., Tjonneland, Anne, Brennan, Paul, Chang-Claude, Jenny, Riboli, Elio, Prescott, Jennifer, Chen, Constance, De Vivo, Immaculata, Govannucci, Edward, Hunter, David, Kraft, Peter, Lindstrom, Sara, Gapstur, Susan M., Jacobs, Eric J., Diver, W. Ryan, Albanes, Demetrius, Weinstein, Stephanie J., Virtamo, Jarmo, Kooperberg, Charles, Hohensee, Chancellor, Rodabough, Rebecca J., Cortessis, Victoria K., Conti, David V., Gago-Dominguez, Manuela, Stern, Mariana C., Pike, Malcolm C., Van Den Berg, David, Yuan, Jian-Min, Haiman, Christopher A., Cussenot, Olivier, Cancel-Tassin, Geraldine, Roupret, Morgan, Comperat, Eva, Porru, Stefano, Carta, Angela, Pavanello, Sofia, Arici, Cecilia, Mastrangelo, Giuseppe, Grossman, H. Barton, Wang, Zhaoming, Deng, Xiang, Chung, Charles C., Hutchinson, Amy, Burdette, Laurie, Wheeler, William, Fraumeni, Joseph, Jr., Chanock, Stephen J., Hewitt, Stephen M., Silverman, Debra T., Rothman, Nathaniel, and Prokunina-Olsson, Ludmila

Abstract

A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell-cycle protein. We performed genetic fine-mapping analysis of the CCNE1 region using data from two bladder cancer GWAS (5,942 cases and 10,857 controls). We found that the original GWAS marker rs8102137 represents a group of 47 linked SNPs (with r(2) >= 0.7) associated with increased bladder cancer risk. From this group, we selected a functional promoter variant rs7257330, which showed strong allele-specific binding of nuclear proteins in several cell lines. In both GWASs, rs7257330 was associated only with aggressive bladder cancer, with a combined per-allele OR = 1.18 [95% confidence interval (CI), 1.09-1.27, P = 4.67 x 10(-5)] versus OR = 1.01 (95% CI, 0.93-1.10, P = 0.79) for nonaggressive disease, with P = 0.0015 for case-only analysis. Cyclin E protein expression analyzed in 265 bladder tumors was increased in aggressive tumors (P = 0.013) and, independently, with each rs7257330-A risk allele (P-trend = 0.024). Overexpression of recombinant cyclin E in cell lines caused significant acceleration of cell cycle. In conclusion, we defined the 19q12 signal as the first GWAS signal specific for aggressive bladder cancer. Molecular mechanisms of this genetic association may be related to cyclin E overexpression and alteration of cell cycle in carriers of CCNE1 risk variants. In combination with established bladder cancer risk factors and other somatic and germline genetic markers, the CCNE1 variants could be useful for inclusion into bladder cancer risk prediction models.

Published
2014
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25. 151

Author

Paquin, Ashley, primary, Onabajo, Olusegun, additional, Porter-Gill, Patricia, additional, and Prokunina-Olsson, Ludmila, additional

Published
2014
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26. The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease

Author

Fu, Yi-Ping, primary, Kohaar, Indu, additional, Moore, Lee E., additional, Lenz, Petra, additional, Figueroa, Jonine D., additional, Tang, Wei, additional, Porter-Gill, Patricia, additional, Chatterjee, Nilanjan, additional, Scott-Johnson, Alexandra, additional, Garcia-Closas, Montserrat, additional, Muchmore, Brian, additional, Baris, Dalsu, additional, Paquin, Ashley, additional, Ylaya, Kris, additional, Schwenn, Molly, additional, Apolo, Andrea B., additional, Karagas, Margaret R., additional, Tarway, McAnthony, additional, Johnson, Alison, additional, Mumy, Adam, additional, Schned, Alan, additional, Guedez, Liliana, additional, Jones, Michael A., additional, Kida, Masatoshi, additional, Hosain, GM Monawar, additional, Malats, Nuria, additional, Kogevinas, Manolis, additional, Tardon, Adonina, additional, Serra, Consol, additional, Carrato, Alfredo, additional, Garcia-Closas, Reina, additional, Lloreta, Josep, additional, Wu, Xifeng, additional, Purdue, Mark, additional, Andriole, Gerald L., additional, Grubb, Robert L., additional, Black, Amanda, additional, Landi, Maria T., additional, Caporaso, Neil E., additional, Vineis, Paolo, additional, Siddiq, Afshan, additional, Bueno-de-Mesquita, H. Bas, additional, Trichopoulos, Dimitrios, additional, Ljungberg, Börje, additional, Severi, Gianluca, additional, Weiderpass, Elisabete, additional, Krogh, Vittorio, additional, Dorronsoro, Miren, additional, Travis, Ruth C., additional, Tjønneland, Anne, additional, Brennan, Paul, additional, Chang-Claude, Jenny, additional, Riboli, Elio, additional, Prescott, Jennifer, additional, Chen, Constance, additional, De Vivo, Immaculata, additional, Govannucci, Edward, additional, Hunter, David, additional, Kraft, Peter, additional, Lindstrom, Sara, additional, Gapstur, Susan M., additional, Jacobs, Eric J., additional, Diver, W. Ryan, additional, Albanes, Demetrius, additional, Weinstein, Stephanie J., additional, Virtamo, Jarmo, additional, Kooperberg, Charles, additional, Hohensee, Chancellor, additional, Rodabough, Rebecca J., additional, Cortessis, Victoria K., additional, Conti, David V., additional, Gago-Dominguez, Manuela, additional, Stern, Mariana C., additional, Pike, Malcolm C., additional, Van Den Berg, David, additional, Yuan, Jian-Min, additional, Haiman, Christopher A., additional, Cussenot, Olivier, additional, Cancel-Tassin, Geraldine, additional, Roupret, Morgan, additional, Comperat, Eva, additional, Porru, Stefano, additional, Carta, Angela, additional, Pavanello, Sofia, additional, Arici, Cecilia, additional, Mastrangelo, Giuseppe, additional, Grossman, H. Barton, additional, Wang, Zhaoming, additional, Deng, Xiang, additional, Chung, Charles C., additional, Hutchinson, Amy, additional, Burdette, Laurie, additional, Wheeler, William, additional, Fraumeni, Joseph, additional, Chanock, Stephen J., additional, Hewitt, Stephen M., additional, Silverman, Debra T., additional, Rothman, Nathaniel, additional, and Prokunina-Olsson, Ludmila, additional

Published
2014
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31. The 19q12 Bladder Cancer GWAS Signal: Association with Cyclin E Function and Aggressive Disease.

Author

Yi-Ping Fu, Kohaar, Indu, Moore, Lee E., Lenz, Petra, Figueroa, Jonine D., Wei Tang, Porter-Gill, Patricia, Chatterjee, Nilanjan, Scott-Johnson, Alexandra, Garcia-Closas, Montserrat, Muchmore, Brian, Baris, Dalsu, Paquin, Ashley, Ylaya, Kris, Schwenn, Molly, Apolo, Andrea B., Karagas, Margaret R., Tarway, McAnthony, Johnson, Alison, and Mumy, Adam

Subjects
*BLADDER cancer genetics, *CYCLIN E, *GENETIC markers, *ALLELES, *NUCLEAR protein genetics, *PROTEIN expression, *CANCER risk factors research
Abstract

A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell-cycle protein. We performed genetic fine-mapping analysis of the CCNE1 region using data from two bladder cancer GWAS (5,942 cases and 10,857 controls). We found that the original GWAS marker rs8102137 represents a group of 47 linked SNPs (with r² ≥ 0.7) associated with increased bladder cancer risk. From this group, we selected a functional promoter variant rs7257330, which showed strong allele-specific binding of nuclear proteins in several cell lines. In both GWASs, rs7257330 was associated only with aggressive bladder cancer, with a combined per-allele OR = 1.18 [95% confidence interval (CI), 1.09-1.27, P = 4.67 x 10-5] versus OR = 1.01 (95% CI, 0.93-1.10, P = 0.79) for nonaggressive disease, with P = 0.0015 for case-only analysis. Cyclin E protein expression analyzed in 265 bladder tumors was increased in aggressive tumors (P = 0.013) and, independently, with each rs7257330-A risk allele (Ptrend = 0.024). Overexpression of recombinant cyclin E in cell lines caused significant acceleration of cell cycle. In conclusion, we defined the 19q12 signal as the first GWAS signal specific for aggressive bladder cancer. Molecular mechanisms of this genetic association may be related to cyclin E overexpression and alteration of cell cycle in carriers of CCNE1 risk variants. In combination with established bladder cancer risk factors and other somatic and germline genetic markers, the CCNE1 variants could be useful for inclusion into bladder cancer risk prediction models. [ABSTRACT FROM AUTHOR]

Published
2014
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