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6,357 results on '"Hunter, David J"'

351. Supplementary Table 1 from CYP19A1 Genetic Variation in Relation to Prostate Cancer Risk and Circulating Sex Hormone Concentrations in Men from the Breast and Prostate Cancer Cohort Consortium

Author

Travis, Ruth C., primary, Schumacher, Fredrick, primary, Hirschhorn, Joel N., primary, Kraft, Peter, primary, Allen, Naomi E., primary, Albanes, Demetrius, primary, Berglund, Goran, primary, Berndt, Sonja I., primary, Boeing, Heiner, primary, Bueno-de-Mesquita, H. Bas, primary, Calle, Eugenia E., primary, Chanock, Stephen, primary, Dunning, Alison M., primary, Hayes, Richard, primary, Feigelson, Heather Spencer, primary, Gaziano, J. Michael, primary, Giovannucci, Edward, primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, Kaaks, Rudolf, primary, Kolonel, Laurence N., primary, Ma, Jing, primary, Rodriguez, Laudina, primary, Riboli, Elio, primary, Stampfer, Meir, primary, Stram, Daniel O., primary, Thun, Michael J., primary, Tjønneland, Anne, primary, Trichopoulos, Dimitrios, primary, Vineis, Paolo, primary, Virtamo, Jarmo, primary, Le Marchand, Loïc, primary, and Hunter, David J., primary

Published
2023
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352. Supplementary Methods from CYP19A1 Genetic Variation in Relation to Prostate Cancer Risk and Circulating Sex Hormone Concentrations in Men from the Breast and Prostate Cancer Cohort Consortium

Author

Travis, Ruth C., primary, Schumacher, Fredrick, primary, Hirschhorn, Joel N., primary, Kraft, Peter, primary, Allen, Naomi E., primary, Albanes, Demetrius, primary, Berglund, Goran, primary, Berndt, Sonja I., primary, Boeing, Heiner, primary, Bueno-de-Mesquita, H. Bas, primary, Calle, Eugenia E., primary, Chanock, Stephen, primary, Dunning, Alison M., primary, Hayes, Richard, primary, Feigelson, Heather Spencer, primary, Gaziano, J. Michael, primary, Giovannucci, Edward, primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, Kaaks, Rudolf, primary, Kolonel, Laurence N., primary, Ma, Jing, primary, Rodriguez, Laudina, primary, Riboli, Elio, primary, Stampfer, Meir, primary, Stram, Daniel O., primary, Thun, Michael J., primary, Tjønneland, Anne, primary, Trichopoulos, Dimitrios, primary, Vineis, Paolo, primary, Virtamo, Jarmo, primary, Le Marchand, Loïc, primary, and Hunter, David J., primary

Published
2023
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353. Data from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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354. Supplementary Table 1 from Pathway Analysis of Breast Cancer Genome-Wide Association Study Highlights Three Pathways and One Canonical Signaling Cascade

Author

Menashe, Idan, primary, Maeder, Dennis, primary, Garcia-Closas, Montserrat, primary, Figueroa, Jonine D., primary, Bhattacharjee, Samsiddhi, primary, Rotunno, Melissa, primary, Kraft, Peter, primary, Hunter, David J., primary, Chanock, Stephen J., primary, Rosenberg, Philip S., primary, and Chatterjee, Nilanjan, primary

Published
2023
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355. Data from Genetic Variation at the CYP19A1 Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women

Author

Haiman, Christopher A., primary, Dossus, Laure, primary, Setiawan, V. Wendy, primary, Stram, Daniel O., primary, Dunning, Alison M., primary, Thomas, Gilles, primary, Thun, Michael J., primary, Albanes, Demetrius, primary, Altshuler, David, primary, Ardanaz, Eva, primary, Boeing, Heiner, primary, Buring, Julie, primary, Burtt, Noël, primary, Calle, Eugenia E., primary, Chanock, Stephen, primary, Clavel-Chapelon, Françoise, primary, Colditz, Graham A., primary, Cox, David G., primary, Feigelson, Heather Spencer, primary, Hankinson, Susan E., primary, Hayes, Richard B., primary, Henderson, Brian E., primary, Hirschhorn, Joel N., primary, Hoover, Robert, primary, Hunter, David J., primary, Kaaks, Rudolf, primary, Kolonel, Laurence N., primary, Le Marchand, Loïc, primary, Lenner, Per, primary, Lund, Eiliv, primary, Panico, Salvatore, primary, Peeters, Petra H., primary, Pike, Malcolm C., primary, Riboli, Elio, primary, Tjonneland, Anne, primary, Travis, Ruth, primary, Trichopoulos, Dimitrios, primary, Wacholder, Sholom, primary, and Ziegler, Regina G., primary

Published
2023
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356. Supplementary Table 4 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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357. Supplementary Table 6 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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358. Supplementary Tables 1-3 from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium

Author

Wolpin, Brian M., primary, Kraft, Peter, primary, Gross, Myron, primary, Helzlsouer, Kathy, primary, Bueno-de-Mesquita, H. Bas, primary, Steplowski, Emily, primary, Stolzenberg-Solomon, Rachael Z., primary, Arslan, Alan A., primary, Jacobs, Eric J., primary, LaCroix, Andrea, primary, Petersen, Gloria, primary, Zheng, Wei, primary, Albanes, Demetrius, primary, Allen, Naomi E., primary, Amundadottir, Laufey, primary, Anderson, Garnet, primary, Boutron-Ruault, Marie-Christine, primary, Buring, Julie E., primary, Canzian, Federico, primary, Chanock, Stephen J., primary, Clipp, Sandra, primary, Gaziano, John Michael, primary, Giovannucci, Edward L., primary, Hallmans, Göran, primary, Hankinson, Susan E., primary, Hoover, Robert N., primary, Hunter, David J., primary, Hutchinson, Amy, primary, Jacobs, Kevin, primary, Kooperberg, Charles, primary, Lynch, Shannon M., primary, Mendelsohn, Julie B., primary, Michaud, Dominique S., primary, Overvad, Kim, primary, Patel, Alpa V., primary, Rajkovic, Aleksandar, primary, Sanchéz, Maria-José, primary, Shu, Xiao-Ou, primary, Slimani, Nadia, primary, Thomas, Gilles, primary, Tobias, Geoffrey S., primary, Trichopoulos, Dimitrios, primary, Vineis, Paolo, primary, Virtamo, Jarmo, primary, Wactawski-Wende, Jean, primary, Yu, Kai, primary, Zeleniuch-Jacquotte, Anne, primary, Hartge, Patricia, primary, and Fuchs, Charles S., primary

Published
2023
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359. Supplementary Table 3 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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360. Supplementary Table 2 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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361. Data from Pathway Analysis of Breast Cancer Genome-Wide Association Study Highlights Three Pathways and One Canonical Signaling Cascade

Author

Menashe, Idan, primary, Maeder, Dennis, primary, Garcia-Closas, Montserrat, primary, Figueroa, Jonine D., primary, Bhattacharjee, Samsiddhi, primary, Rotunno, Melissa, primary, Kraft, Peter, primary, Hunter, David J., primary, Chanock, Stephen J., primary, Rosenberg, Philip S., primary, and Chatterjee, Nilanjan, primary

Published
2023
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362. Data from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium

Author

Wolpin, Brian M., primary, Kraft, Peter, primary, Gross, Myron, primary, Helzlsouer, Kathy, primary, Bueno-de-Mesquita, H. Bas, primary, Steplowski, Emily, primary, Stolzenberg-Solomon, Rachael Z., primary, Arslan, Alan A., primary, Jacobs, Eric J., primary, LaCroix, Andrea, primary, Petersen, Gloria, primary, Zheng, Wei, primary, Albanes, Demetrius, primary, Allen, Naomi E., primary, Amundadottir, Laufey, primary, Anderson, Garnet, primary, Boutron-Ruault, Marie-Christine, primary, Buring, Julie E., primary, Canzian, Federico, primary, Chanock, Stephen J., primary, Clipp, Sandra, primary, Gaziano, John Michael, primary, Giovannucci, Edward L., primary, Hallmans, Göran, primary, Hankinson, Susan E., primary, Hoover, Robert N., primary, Hunter, David J., primary, Hutchinson, Amy, primary, Jacobs, Kevin, primary, Kooperberg, Charles, primary, Lynch, Shannon M., primary, Mendelsohn, Julie B., primary, Michaud, Dominique S., primary, Overvad, Kim, primary, Patel, Alpa V., primary, Rajkovic, Aleksandar, primary, Sanchéz, Maria-José, primary, Shu, Xiao-Ou, primary, Slimani, Nadia, primary, Thomas, Gilles, primary, Tobias, Geoffrey S., primary, Trichopoulos, Dimitrios, primary, Vineis, Paolo, primary, Virtamo, Jarmo, primary, Wactawski-Wende, Jean, primary, Yu, Kai, primary, Zeleniuch-Jacquotte, Anne, primary, Hartge, Patricia, primary, and Fuchs, Charles S., primary

Published
2023
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363. Supplementary Table 5 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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364. Supplementary Methods and Tables 1-4 from Genetic Variation at the CYP19A1 Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women

Author

Haiman, Christopher A., primary, Dossus, Laure, primary, Setiawan, V. Wendy, primary, Stram, Daniel O., primary, Dunning, Alison M., primary, Thomas, Gilles, primary, Thun, Michael J., primary, Albanes, Demetrius, primary, Altshuler, David, primary, Ardanaz, Eva, primary, Boeing, Heiner, primary, Buring, Julie, primary, Burtt, Noël, primary, Calle, Eugenia E., primary, Chanock, Stephen, primary, Clavel-Chapelon, Françoise, primary, Colditz, Graham A., primary, Cox, David G., primary, Feigelson, Heather Spencer, primary, Hankinson, Susan E., primary, Hayes, Richard B., primary, Henderson, Brian E., primary, Hirschhorn, Joel N., primary, Hoover, Robert, primary, Hunter, David J., primary, Kaaks, Rudolf, primary, Kolonel, Laurence N., primary, Le Marchand, Loïc, primary, Lenner, Per, primary, Lund, Eiliv, primary, Panico, Salvatore, primary, Peeters, Petra H., primary, Pike, Malcolm C., primary, Riboli, Elio, primary, Tjonneland, Anne, primary, Travis, Ruth, primary, Trichopoulos, Dimitrios, primary, Wacholder, Sholom, primary, and Ziegler, Regina G., primary

Published
2023
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365. Supplementary Table 1 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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366. Supplementary Figure 1 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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367. Supplementary Table 7 from Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

Author

Hutter, Carolyn M., primary, Chang-Claude, Jenny, primary, Slattery, Martha L., primary, Pflugeisen, Bethann M., primary, Lin, Yi, primary, Duggan, David, primary, Nan, Hongmei, primary, Lemire, Mathieu, primary, Rangrej, Jagadish, primary, Figueiredo, Jane C., primary, Jiao, Shuo, primary, Harrison, Tabitha A., primary, Liu, Yan, primary, Chen, Lin S., primary, Stelling, Deanna L., primary, Warnick, Greg S., primary, Hoffmeister, Michael, primary, Küry, Sébastien, primary, Fuchs, Charles S., primary, Giovannucci, Edward, primary, Hazra, Aditi, primary, Kraft, Peter, primary, Hunter, David J., primary, Gallinger, Steven, primary, Zanke, Brent W., primary, Brenner, Hermann, primary, Frank, Bernd, primary, Ma, Jing, primary, Ulrich, Cornelia M., primary, White, Emily, primary, Newcomb, Polly A., primary, Kooperberg, Charles, primary, LaCroix, Andrea Z., primary, Prentice, Ross L., primary, Jackson, Rebecca D., primary, Schoen, Robert E., primary, Chanock, Stephen J., primary, Berndt, Sonja I., primary, Hayes, Richard B., primary, Caan, Bette J., primary, Potter, John D., primary, Hsu, Li, primary, Bézieau, Stéphane, primary, Chan, Andrew T., primary, Hudson, Thomas J., primary, and Peters, Ulrike, primary

Published
2023
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368. Supplementary Table 2 from Pathway Analysis of Breast Cancer Genome-Wide Association Study Highlights Three Pathways and One Canonical Signaling Cascade

Author

Menashe, Idan, primary, Maeder, Dennis, primary, Garcia-Closas, Montserrat, primary, Figueroa, Jonine D., primary, Bhattacharjee, Samsiddhi, primary, Rotunno, Melissa, primary, Kraft, Peter, primary, Hunter, David J., primary, Chanock, Stephen J., primary, Rosenberg, Philip S., primary, and Chatterjee, Nilanjan, primary

Published
2023
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372. Selection of Knees With Subsequent Cartilage Thickness Loss Based on Magnetic Resonance Imaging Semiquantitative Grading: Data From the Osteoarthritis Initiative Foundation for the National Institutes of Health Biomarker Cohort

Author

Wirth, Wolfgang, primary, Maschek, Susanne, additional, Wisser, Anna, additional, Guermazi, Ali, additional, Hunter, David J., additional, Kwoh, C. Kent, additional, Nevitt, Michael C., additional, Eckstein, Felix, additional, and Roemer, Frank W., additional

Published
2023
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374. Singapore KneE osTeoarthritis CoHort (SKETCH): protocol for a multi-centre prospective cohort study

Author

Tan, Bryan Yijia, primary, Goh, Zack Zhong Sheng, additional, Lim, Chien Joo, additional, Pereira, Michelle Jessica, additional, Yang, Su-Yin, additional, Tan, Kelvin Guoping, additional, Tan, Alvin Chin Kwong, additional, Liang, Phyllis, additional, Abbott, J. Haxby, additional, Briggs, Andrew M., additional, Hunter, David J., additional, Skou, Soren T., additional, Thumboo, Julian, additional, and Car, Josip, additional

Published
2023
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378. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Author

Mueller, Stefanie H., Lai, Alvina G., Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y., Buys, Saundra S., Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Chung, Wendy K., Colonna, Sarah, V, Cornelissen, Sten, Couch, Fergus J., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dork, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guenel, Pascal, Gundert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Harkness, Elaine F., Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Huo, Dezheng, Investigators, Abctb, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K., Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James, V, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Menon, Usha, Muir, Kenneth, Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Niederacher, Dieter, O'Brien, Katie M., Obi, Nadia, Offit, Kenneth, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olsson, Hakan, Park, Sue K., Patel, Alpa, V, Patel, Achal, Perou, Charles M., Peto, Julian, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Scott, Christopher, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Surowy, Harald, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Yang, Xiaohong R., Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Easton, Douglas F., Hemingway, Harry, Hamann, Ute, Kuchenbaecker, Karoline B., Mueller, Stefanie H., Lai, Alvina G., Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y., Buys, Saundra S., Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Chung, Wendy K., Colonna, Sarah, V, Cornelissen, Sten, Couch, Fergus J., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dork, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guenel, Pascal, Gundert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Harkness, Elaine F., Harrington, Patricia A., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Huo, Dezheng, Investigators, Abctb, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K., Kim, Sung-Won, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James, V, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Menon, Usha, Muir, Kenneth, Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Niederacher, Dieter, O'Brien, Katie M., Obi, Nadia, Offit, Kenneth, Olopade, Olufunmilayo, I, Olshan, Andrew F., Olsson, Hakan, Park, Sue K., Patel, Alpa, V, Patel, Achal, Perou, Charles M., Peto, Julian, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Ramachandran, Dhanya, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Ruddy, Kathryn J., Ruebner, Matthias, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneider, Michael O., Scott, Christopher, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Surowy, Harald, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Vijai, Joseph, Weinberg, Clarice R., Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Yang, Xiaohong R., Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M., Easton, Douglas F., Hemingway, Harry, Hamann, Ute, and Kuchenbaecker, Karoline B.

Abstract

Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. Results: In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 x 10(-6)) and AC058822.1 (P = 1.47 x 10(-4)), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. Conclusions: Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 x 10(-5)), demonstrating the importance of diversifying study cohorts.

Published
2023
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379. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

Author

Mueller, Stefanie H, Mueller, Stefanie H, Lai, Alvina G, Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baert, Thais, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y, Buys, Saundra S, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Choi, Ji-Yeob, Chung, Wendy K, NBCS Collaborators, Colonna, Sarah V, CTS Consortium, Cornelissen, Sten, Couch, Fergus J, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Harkness, Elaine F, Harrington, Patricia A, Hartikainen, Jaana M, Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Huo, Dezheng, ABCTB Investigators, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K, Kim, Sung-Won, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Kwong, Ava, Mueller, Stefanie H, Mueller, Stefanie H, Lai, Alvina G, Valkovskaya, Maria, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Abu-Ful, Zomoruda, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Baert, Thais, Freeman, Laura E Beane, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Brucker, Sara Y, Buys, Saundra S, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Choi, Ji-Yeob, Chung, Wendy K, NBCS Collaborators, Colonna, Sarah V, CTS Consortium, Cornelissen, Sten, Couch, Fergus J, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Yu-Tang, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Gentry-Maharaj, Aleksandra, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Harkness, Elaine F, Harrington, Patricia A, Hartikainen, Jaana M, Hartman, Mikael, Hein, Alexander, Ho, Weang-Kee, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Huo, Dezheng, ABCTB Investigators, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Khusnutdinova, Elza K, Kim, Sung-Won, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, and Kwong, Ava

Abstract

Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 × 10-6) and AC058822.1 (P = 1.47 × 10-4), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 × 10-5), demonstrating the importance of diversifying study cohorts.

Published
2023

380. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

Author

Middha, Pooja K., Wang, Xiaoliang, Behrens, Sabine, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Becher, Heiko, Beckmann, Matthias W., Benitez, Javier, Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Cordina-Duverger, Emilie, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dossus, Laure, Dugue, Pierre-Antoine, Eliassen, A. Heather, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Giles, Graham G., Gonzalez-Neira, Anna, Grassmann, Felix, Grundy, Anne, Guenel, Pascal, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan E., Harkness, Elaine F., Holleczek, Bernd, Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Ingvar, Christian, Isaksson, Karolin, Jernstroem, Helena, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Larson, Nicole L., Larsson, Susanna C., Le Marchand, Loic, Lejbkowicz, Flavio, Li, Shuai, Linet, Martha, Lissowska, Jolanta, Martinez, Maria Elena, Maurer, Tabea, Mulligan, Anna Marie, Mulot, Claire, Murphy, Rachel A., Newman, William G., Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, O'Brien, Katie M., Olson, Janet E., Patel, Alpa V., Prentice, Ross, Rees-Punia, Erika, Rennert, Gad, Rhenius, Valerie, Ruddy, Kathryn J., Sandler, Dale P., Scott, Christopher G., Shah, Mitul T., Shu, Xiao-Ou, Smeets, Ann, Southey, Melissa C., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Teras, Lauren R., Tomczyk, Katarzyna, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Wang, Sophia S., Weinberg, Clarice R., Wildiers, Hans, Willett, Walter, Winham, Stacey J., Wolk, Alicja, Yang, Xiaohong, Zamora, M. Pilar, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Garcia-Closas, Montserrat, Schmidt, Marjanka K., Kraft, Peter, Milne, Roger L., Lindstroem, Sara, Easton, Douglas F., Chang-Claude, Jenny, Middha, Pooja K., Wang, Xiaoliang, Behrens, Sabine, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Augustinsson, Annelie, Baert, Thais, Freeman, Laura E. Beane, Becher, Heiko, Beckmann, Matthias W., Benitez, Javier, Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Campa, Daniele, Canzian, Federico, Carracedo, Angel, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Cordina-Duverger, Emilie, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dossus, Laure, Dugue, Pierre-Antoine, Eliassen, A. Heather, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Giles, Graham G., Gonzalez-Neira, Anna, Grassmann, Felix, Grundy, Anne, Guenel, Pascal, Haiman, Christopher A., Hakansson, Niclas, Hall, Per, Hamann, Ute, Hankinson, Susan E., Harkness, Elaine F., Holleczek, Bernd, Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Hunter, David J., Ingvar, Christian, Isaksson, Karolin, Jernstroem, Helena, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M., Ko, Yon-Dschun, Koutros, Stella, Kurian, Allison W., Lacey, James V., Lambrechts, Diether, Larson, Nicole L., Larsson, Susanna C., Le Marchand, Loic, Lejbkowicz, Flavio, Li, Shuai, Linet, Martha, Lissowska, Jolanta, Martinez, Maria Elena, Maurer, Tabea, Mulligan, Anna Marie, Mulot, Claire, Murphy, Rachel A., Newman, William G., Nielsen, Sune F., Nordestgaard, Borge G., Norman, Aaron, O'Brien, Katie M., Olson, Janet E., Patel, Alpa V., Prentice, Ross, Rees-Punia, Erika, Rennert, Gad, Rhenius, Valerie, Ruddy, Kathryn J., Sandler, Dale P., Scott, Christopher G., Shah, Mitul T., Shu, Xiao-Ou, Smeets, Ann, Southey, Melissa C., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Teras, Lauren R., Tomczyk, Katarzyna, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Wang, Sophia S., Weinberg, Clarice R., Wildiers, Hans, Willett, Walter, Winham, Stacey J., Wolk, Alicja, Yang, Xiaohong, Zamora, M. Pilar, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Garcia-Closas, Montserrat, Schmidt, Marjanka K., Kraft, Peter, Milne, Roger L., Lindstroem, Sara, Easton, Douglas F., and Chang-Claude, Jenny

Abstract

Background Genome-wide studies of gene-environment interactions (GxE) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide GxE analysis of similar to 7.6 million common variants and seven lifestyle/environmental risk factors for breast cancer risk overall and for estrogen receptor positive (ER +) breast cancer. Methods Analyses were conducted using 72,285 breast cancer cases and 80,354 controls of European ancestry from the Breast Cancer Association Consortium. Gene-environment interactions were evaluated using standard unconditional logistic regression models and likelihood ratio tests for breast cancer risk overall and for ER + breast cancer. Bayesian False Discovery Probability was employed to assess the noteworthiness of each SNP-risk factor pairs. Results Assuming a 1 x 10(-5) prior probability of a true association for each SNP-risk factor pairs and a Bayesian False Discovery Probability < 15%, we identified two independent SNP-risk factor pairs: rs80018847(9p13)-LINGO2 and adult height in association with overall breast cancer risk (ORint = 0.94, 95% CI 0.92-0.96), and rs4770552(13q12)-SPATA13 and age at menarche for ER + breast cancer risk (ORint = 0.91, 95% CI 0.88-0.94). Conclusions Overall, the contribution of GxE interactions to the heritability of breast cancer is very small. At the population level, multiplicative GxE interactions do not make an important contribution to risk prediction in breast cancer.

Published
2023
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381. The OA Trial Bank:Update of individual patient data meta-analysis of intra-articular glucocorticoids in persons with knee and hip osteoarthritis

Author

Yu, Shirley P., van Middelkoop, Marienke, Ferreira, Manuela L., Deveza, Leticia, Bierma-Zeinstra, Sita M.A., Venkatesha, Venkatesha, Hunter, David J., Yu, Shirley P., van Middelkoop, Marienke, Ferreira, Manuela L., Deveza, Leticia, Bierma-Zeinstra, Sita M.A., Venkatesha, Venkatesha, and Hunter, David J.

Abstract

Objective: To evaluate the efficacy of intra--articular (IA) glucocorticoid for knee or hip osteoarthritis (OA) in specific subgroups of patients according to the baseline severity of pain and inflammatory signs using individual patient data (IPD) from existing trials. Furthermore, this study aims to assess if a baseline pain cut-off was associated with clinically important effectiveness of IA glucocorticoid. This is an update of an IA glucocorticoid IPD meta-analysis by the OA Trial Bank. Method: Randomized trials evaluating one or more IA glucocorticoid preparations in hip and knee OA, published to May 2018 were selected. IPD of patient and disease characteristics and outcome measures were acquired. The primary outcome was pain severity at short-term follow-up (up to 4 weeks). Potential interaction effect of severe pain (≥70 points, 0–100 scale) and signs of inflammation at baseline were studied using a two-stage approach with general liner model followed by random effects model. Analysis of trend was conducted, assessing if a baseline pain cut-off was associated with the threshold for clinically important treatment effect of IA glucocorticoid compared to placebo. Results: Four out of 16 eligible randomized clinical trials (n ​= ​641) were combined with the existing OA Trial Bank studies (n ​= ​620), yielding 1261 participants from eleven studies. Participants with severe baseline pain compared to those with less severe pain had greater pain reduction at mid-term (around 12 weeks) (mean reduction: −6.90 (95%CI -10.91; −2.90)), but not at short- and long-term. No interaction effects were found between inflammatory signs and IA glucocorticoid injections compared to placebo at all follow-up time-points. Analysis of trend demonstrated treatment response to IA glucocorticoid from baseline pain levels >50 (0–100 scale) and above. Conclusion: This updated IPD meta-analysis demonstrated that participants with severe pain compared to those with less severe pain at ba

Published
2023

382. Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

Author

Lopes Cardozo, Josephine MN, Lopes Cardozo, Josephine MN, Andrulis, Irene L, Bojesen, Stig E, Dörk, Thilo, Eccles, Diana M, Fasching, Peter A, Hooning, Maartje J, Keeman, Renske, Nevanlinna, Heli, Rutgers, Emiel JT, Easton, Douglas F, Hall, Per, Pharoah, Paul DP, van 't Veer, Laura J, Schmidt, Marjanka K, Ahearn, Thomas U, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bolla, Manjeet K, Bonanni, Bernardo, Boyle, Terry, Brenner, Hermann, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Camp, Nicola J, Canzian, Federico, Cardoso, Fatima, Castelao, Jose E, Cessna, Melissa H, Chan, Tsun L, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Colonna, Sarah V, Copson, Ellen, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Drukker, Caroline A, Dunning, Alison M, Dwek, Miriam, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Figueroa, Jonine D, Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette AM, Hein, Alexander, Ho, Weang-Kee, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Ito, Hidemi, Jakubowska, Anna, Jernström, Helena, John, Esther M, Johnson, Nichola, Jones, Michael E, Joseph, Vijai, Kaaks, Rudolf, Kang, Daehee, Kim, Sung-Won, Kitahara, Cari M, Koppert, Linetta B, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Koutros, Stella, Lopes Cardozo, Josephine MN, Lopes Cardozo, Josephine MN, Andrulis, Irene L, Bojesen, Stig E, Dörk, Thilo, Eccles, Diana M, Fasching, Peter A, Hooning, Maartje J, Keeman, Renske, Nevanlinna, Heli, Rutgers, Emiel JT, Easton, Douglas F, Hall, Per, Pharoah, Paul DP, van 't Veer, Laura J, Schmidt, Marjanka K, Ahearn, Thomas U, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bolla, Manjeet K, Bonanni, Bernardo, Boyle, Terry, Brenner, Hermann, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Camp, Nicola J, Canzian, Federico, Cardoso, Fatima, Castelao, Jose E, Cessna, Melissa H, Chan, Tsun L, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Colonna, Sarah V, Copson, Ellen, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Drukker, Caroline A, Dunning, Alison M, Dwek, Miriam, Eliassen, A Heather, Engel, Christoph, Evans, D Gareth, Figueroa, Jonine D, Fletcher, Olivia, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette AM, Hein, Alexander, Ho, Weang-Kee, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Hunter, David J, Ito, Hidemi, Jakubowska, Anna, Jernström, Helena, John, Esther M, Johnson, Nichola, Jones, Michael E, Joseph, Vijai, Kaaks, Rudolf, Kang, Daehee, Kim, Sung-Won, Kitahara, Cari M, Koppert, Linetta B, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, and Koutros, Stella

Abstract

PurposeA polygenic risk score (PRS) consisting of 313 common genetic variants (PRS313) is associated with risk of breast cancer and contralateral breast cancer. This study aimed to evaluate the association of the PRS313 with clinicopathologic characteristics of, and survival following, breast cancer.MethodsWomen with invasive breast cancer were included, 98,397 of European ancestry and 12,920 of Asian ancestry, from the Breast Cancer Association Consortium (BCAC), and 683 women from the European MINDACT trial. Associations between PRS313 and clinicopathologic characteristics, including the 70-gene signature for MINDACT, were evaluated using logistic regression analyses. Associations of PRS313 (continuous, per standard deviation) with overall survival (OS) and breast cancer-specific survival (BCSS) were evaluated with Cox regression, adjusted for clinicopathologic characteristics and treatment.ResultsThe PRS313 was associated with more favorable tumor characteristics. In BCAC, increasing PRS313 was associated with lower grade, hormone receptor-positive status, and smaller tumor size. In MINDACT, PRS313 was associated with a low risk 70-gene signature. In European women from BCAC, higher PRS313 was associated with better OS and BCSS: hazard ratio (HR) 0.96 (95% CI, 0.94 to 0.97) and 0.96 (95% CI, 0.94 to 0.98), but the association disappeared after adjustment for clinicopathologic characteristics (and treatment): OS HR, 1.01 (95% CI, 0.98 to 1.05) and BCSS HR, 1.02 (95% CI, 0.98 to 1.07). The results in MINDACT and Asian women from BCAC were consistent.ConclusionAn increased PRS313 is associated with favorable tumor characteristics, but is not independently associated with prognosis. Thus, PRS313 has no role in the clinical management of primary breast cancer at the time of diagnosis. Nevertheless, breast cancer mortality rates will be higher for women with higher PRS313 as increasing PRS313 is associated with an increased risk of disease. This information is crucial

Published
2023

385. Do patients with femoroacetabular impingement syndrome who undergo hip arthroscopy display improved alpha angle (magnetic resonance imaging) and radiographic hip morphology?

Author

Thirumaran, Aricia Jieqi, Murphy, Nicholas J, Eyles, Jillian Peta, Linklater, James M, Reichenbach, Stephan, Schmaranzer, Florian, Lerch, Till D, Venkatesha, Venkatesha, Heller, Gillian, O'Donnell, John, and Hunter, David J

Subjects
Rheumatology, 360 Social problems & social services, 360 Soziale Probleme, Sozialdienste, 610 Medicine & health, 610 Medizin und Gesundheit
Abstract

AIMS To compare (a) the change in radiological bony morphology between participants with femoroacetabular impingement (FAI) syndrome who underwent arthroscopic hip surgery compared to physiotherapist-led non-surgical care and (b) the change in radiological bony morphology between participants with FAI syndrome who underwent arthroscopic hip surgery involving cam resection or acetabular rim trimming or combined cam resection and acetabular rim trimming. METHODS Maximum alpha angle measurements on magnetic resonance imaging and Hip2 Norm standardized hip measurements on radiographs were recorded at baseline and at 12 months postoperatively. One-way analysis of covariance and independent T tests were conducted between participants who underwent arthroscopic hip surgery and physiotherapist-led non-surgical care. Independent T tests and analysis of variance were conducted between participants who underwent the 3 different arthroscopic hip procedures. RESULTS Arthroscopic hip surgery resulted in significant improvements to mean alpha angle measurements (decreased from 70.8° to 62.1°) (P value

Published
2023

388. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Author

Conti, David V., Darst, Burcu F., Moss, Lilit C., Saunders, Edward J., Sheng, Xin, Chou, Alisha, Schumacher, Fredrick R., Olama, Ali Amin Al, Benlloch, Sara, Dadaev, Tokhir, Brook, Mark N., Sahimi, Ali, Hoffmann, Thomas J., Takahashi, Atushi, Matsuda, Koichi, Momozawa, Yukihide, Fujita, Masashi, Muir, Kenneth, Lophatananon, Artitaya, Wan, Peggy, Le Marchand, Loic, Wilkens, Lynne R., Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., Cybulski, Cezary, Wokołorczyk, Dominika, Lubiński, Jan, Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Nordestgaard, Børge G., Nielsen, Sune F., Weischer, Maren, Bojesen, Stig E., Røder, Martin Andreas, Iversen, Peter, Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Horvath, Lisa, Clements, Judith A., Tilley, Wayne, Risbridger, Gail P., Gronberg, Henrik, Aly, Markus, Szulkin, Robert, Eklund, Martin, Nordström, Tobias, Pashayan, Nora, Dunning, Alison M., Ghoussaini, Maya, Travis, Ruth C., Key, Tim J., Riboli, Elio, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Albanes, Demetrius, Weinstein, Stephanie J., Mucci, Lorelei A., Giovannucci, Edward, Lindstrom, Sara, Kraft, Peter, Hunter, David J., Penney, Kathryn L., Turman, Constance, Tangen, Catherine M., Goodman, Phyllis J., Thompson, Jr., Ian M., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Parent, Marie-Élise, Stanford, Janet L., Ostrander, Elaine A., Geybels, Milan S., Koutros, Stella, Freeman, Laura E. Beane, Stampfer, Meir, Wolk, Alicja, Håkansson, Niclas, Andriole, Gerald L., Hoover, Robert N., Machiela, Mitchell J., Sørensen, Karina Dalsgaard, Borre, Michael, Blot, William J., Zheng, Wei, Yeboah, Edward D., Mensah, James E., Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Wu, Yudong, Zhao, Shan-Chao, Sun, Zan, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., West, Catharine M. L., Burnet, Neil, Barnett, Gill, Maier, Christiane, Schnoeller, Thomas, Luedeke, Manuel, Kibel, Adam S., Drake, Bettina F., Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, John, Esther M., Grindedal, Eli Marie, Maehle, Lovise, Khaw, Kay-Tee, Ingles, Sue A., Stern, Mariana C., Vega, Ana, Gómez-Caamaño, Antonio, Fachal, Laura, Rosenstein, Barry S., Kerns, Sarah L., Ostrer, Harry, Teixeira, Manuel R., Paulo, Paula, Brandão, Andreia, Watya, Stephen, Lubwama, Alexander, Bensen, Jeannette T., Fontham, Elizabeth T. H., Mohler, James, Taylor, Jack A., Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Cannon-Albright, Lisa, Teerlink, Craig C., Huff, Chad D., Strom, Sara S., Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Kaneva, Radka, Slavov, Chavdar, Mitev, Vanio, Leach, Robin J., Weaver, Brandi, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Saum, Kai-Uwe, Klein, Eric A., Hsing, Ann W., Kittles, Rick A., Murphy, Adam B., Logothetis, Christopher J., Kim, Jeri, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, Isaacs, William B., Nemesure, Barbara, Hennis, Anselm J. M., Carpten, John, Pandha, Hardev, Michael, Agnieszka, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Xu, Jianfeng, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Newcomb, Lisa F., Lin, Daniel W., Fowke, Jay H., Neslund-Dudas, Christine, Rybicki, Benjamin A., Gamulin, Marija, Lessel, Davor, Kulis, Tomislav, Usmani, Nawaid, Singhal, Sandeep, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Bush, William S., Aldrich, Melinda C., Crawford, Dana C., Srivastava, Shiv, Cullen, Jennifer C., Petrovics, Gyorgy, Casey, Graham, Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Hu, Jennifer J., Sanderson, Maureen, Varma, Rohit, McKean-Cowdin, Roberta, Torres, Mina, Mancuso, Nicholas, Berndt, Sonja I., Van Den Eeden, Stephen K., Easton, Douglas F., Chanock, Stephen J., Cook, Michael B., Wiklund, Fredrik, Nakagawa, Hidewaki, Witte, John S., Eeles, Rosalind A., Kote-Jarai, Zsofia, and Haiman, Christopher A.

Published
2021
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390. Reforming healthcare: What's the evidence?

Author

Greener, Ian, author, Harrington, Barbara E., author, Hunter, David J., author, Mannion, Russell, author, Powell, Martin, author, Greener, Ian, Harrington, Barbara E., Hunter, David J., Mannion, Russell, and Powell, Martin

Published
2014
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391. The association between anterior cruciate ligament degeneration and incident knee osteoarthritis: Data from the osteoarthritis initiative

Author

Luo, Ping, Wang, Qianyi, Cao, Peihua, Chen, Tianyu, Li, Shengfa, Wang, Xiaoshuai, Li, Yamin, Gong, Ze, Zhang, Yan, Ruan, Guangfeng, Zhou, Zuoqing, Wang, Yuanyuan, Han, Weiyu, Zhu, Zhaohua, Hunter, David J., Li, Jia, and Ding, Changhai

Abstract

Though anterior cruciate ligament (ACL) tear has been widely accepted as an important accelerator for knee osteoarthritis (KOA), the role of intrinsic ACL degeneration in developing KOA has not been fully investigated.

Published
2024
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392. Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Author

Kentistou, Katherine A., Kaisinger, Lena R., Stankovic, Stasa, Vaudel, Marc, Mendes de Oliveira, Edson, Messina, Andrea, Walters, Robin G., Liu, Xiaoxi, Busch, Alexander S., Helgason, Hannes, Thompson, Deborah J., Santoni, Federico, Petricek, Konstantin M., Zouaghi, Yassine, Huang-Doran, Isabel, Gudbjartsson, Daniel F., Bratland, Eirik, Lin, Kuang, Gardner, Eugene J., Zhao, Yajie, Jia, Raina Y., Terao, Chikashi, Riggan, Marjorie J., Bolla, Manjeet K., Yazdanpanah, Mojgan, Yazdanpanah, Nahid, Bradfield, Jonathan P., Broer, Linda, Campbell, Archie, Chasman, Daniel I., Cousminer, Diana L., Franceschini, Nora, Franke, Lude H., Girotto, Giorgia, He, Chunyan, Järvelin, Marjo-Riitta, Joshi, Peter K., Kamatani, Yoichiro, Karlsson, Robert, Luan, Jian’an, Lunetta, Kathryn L., Mägi, Reedik, Mangino, Massimo, Medland, Sarah E., Meisinger, Christa, Noordam, Raymond, Nutile, Teresa, Concas, Maria Pina, Polašek, Ozren, Porcu, Eleonora, Ring, Susan M., Sala, Cinzia, Smith, Albert V., Tanaka, Toshiko, van der Most, Peter J., Vitart, Veronique, Wang, Carol A., Willemsen, Gonneke, Zygmunt, Marek, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Auer, Paul L., Barnes, Catriona L. K., Beckmann, Matthias W., Berrington de Gonzalez, Amy, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Buring, Julie E., Canzian, Federico, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Crisponi, Laura, Czene, Kamila, Daly, Mary B., Demerath, Ellen W., Dennis, Joe, Devilee, Peter, De Vivo, Immaculata, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eriksson, Johan G., Fasching, Peter A., Fernandez-Rhodes, Lindsay, Ferreli, Liana, Fletcher, Olivia, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., González-Neira, Anna, Grallert, Harald, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hakonarson, Hakon, Hart, Roger J., Hickey, Martha, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Hottenga, Jouke-Jan, Hu, Frank B., Huebner, Hanna, Hunter, David J., Jernström, Helena, John, Esther M., Karasik, David, Khusnutdinova, Elza K., Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Launer, Lenore J., Lind, Penelope A., Lindblom, Annika, Magnusson, Patrik K. E., Mannermaa, Arto, McCarthy, Mark I., Meitinger, Thomas, Menni, Cristina, Michailidou, Kyriaki, Millwood, Iona Y., Milne, Roger L., Montgomery, Grant W., Nevanlinna, Heli, Nolte, Ilja M., Nyholt, Dale R., Obi, Nadia, O’Brien, Katie M., Offit, Kenneth, Oldehinkel, Albertine J., Ostrowski, Sisse R., Palotie, Aarno, Pedersen, Ole B., Peters, Annette, Pianigiani, Giulia, Plaseska-Karanfilska, Dijana, Pouta, Anneli, Pozarickij, Alfred, Radice, Paolo, Rennert, Gad, Rosendaal, Frits R., Ruggiero, Daniela, Saloustros, Emmanouil, Sandler, Dale P., Schipf, Sabine, Schmidt, Carsten O., Schmidt, Marjanka K., Small, Kerrin, Spedicati, Beatrice, Stampfer, Meir, Stone, Jennifer, Tamimi, Rulla M., Teras, Lauren R., Tikkanen, Emmi, Turman, Constance, Vachon, Celine M., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Zemel, Babette S., Zheng, Wei, van Dijk, Ko W., Alizadeh, Behrooz Z., Bandinelli, Stefania, Boerwinkle, Eric, Boomsma, Dorret I., Ciullo, Marina, Chenevix-Trench, Georgia, Cucca, Francesco, Esko, Tõnu, Gieger, Christian, Grant, Struan F. A., Gudnason, Vilmundur, Hayward, Caroline, Kolčić, Ivana, Kraft, Peter, Lawlor, Deborah A., Martin, Nicholas G., Nøhr, Ellen A., Pedersen, Nancy L., Pennell, Craig E., Ridker, Paul M., Robino, Antonietta, Snieder, Harold, Sovio, Ulla, Spector, Tim D., Stöckl, Doris, Sudlow, Cathie, Timpson, Nic J., Toniolo, Daniela, Uitterlinden, André, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Widen, Elisabeth, Wilson, James F., Pharoah, Paul D. P., Li, Liming, Easton, Douglas F., Njølstad, Pål R., Sulem, Patrick, Murabito, Joanne M., Murray, Anna, Manousaki, Despoina, Juul, Anders, Erikstrup, Christian, Stefansson, Kari, Horikoshi, Momoko, Chen, Zhengming, Farooqi, I. Sadaf, Pitteloud, Nelly, Johansson, Stefan, Day, Felix R., Perry, John R. B., and Ong, Ken K.

Abstract

Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, these explained 11% of trait variance in an independent sample. Women at the top and bottom 1% of polygenic risk exhibited ~11 and ~14-fold higher risks of delayed and precocious puberty, respectively. We identified several genes harboring rare loss-of-function variants in ~200,000 women, including variants in ZNF483, which abolished the impact of polygenic risk. Variant-to-gene mapping approaches and mouse gonadotropin-releasing hormone neuron RNA sequencing implicated 665 genes, including an uncharacterized G-protein-coupled receptor, GPR83, which amplified the signaling of MC3R, a key nutritional sensor. Shared signals with menopause timing at genes involved in DNA damage response suggest that the ovarian reserve might signal centrally to trigger puberty. We also highlight body size-dependent and independent mechanisms that potentially link reproductive timing to later life disease.

Published
2024
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