Large-scale genomic analyses link reproductive ageing to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Autor: Day, Felix R, McArdle, Patrick F, Johnson, Andrew D, Lunetta, Kathryn L, Yao, Jie, Keller, Margaux F, Huffman, Jennifer E, Teumer, Alexander, Thompson, Deborah J, Finucane, Hilary K, Rose, Lynda M, Nutile, Teresa, Franke, Lude L, Vuckovic, Dragana, He, Chunyan, Bulik-Sullivan, Brendan, Porcu, Eleonora, Franceschini, Nora, Zhao, Wei, Chasman, Daniel I, Pervjakova, Natalia, Altmaier, Elisabeth, Stolk, Lisette, Elks, Cathy E, Sulem, Patrick, Ruth, Katherine S, Robino, Antonietta, Smith, Jennifer A, Esko, Tõnu, Brody, Jennifer A, Schick, Ursula M, Traglia, Michela

John Perry and colleagues report the results of a large genome-wide association study meta-analysis to identify variants influencing age at natural menopause. They identify 54 independent signals and find enrichment near genes involved in delayed pub

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Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Autor: Lynne J. Hocking, Caterina Barbieri, Jenny Chang-Claude, David Karasik, Dieter Flesch-Janys, James F. Wilson, Mark S. Goldberg, Henry Voelzke, Archie Campbell, Stig E. Bojesen, David R. Weir, Ailith Pirie, Megan L. Grove, Melissa Wellons, Georg Homuth, Corrado Masciullo, Jennifer A. Brody, Hermann Brenner, Paolo Gasparini, Andrew D. Johnson, Patrick Neven, Graham G. Giles, Peter Kraft, André G. Uitterlinden, Wei Zheng, Alkes L. Price, Anja Rudolph, Arto Mannermaa, Nicholas G. Martin, Christopher A. Haiman, Massimo Mangino, Melissa C. Southey, Daniela Ruggiero, Toshiko Tanaka, Kathryn L. Lunetta, Julie E. Buring, John R. B. Perry, Robert Winqvist, Laufey Tryggvadottir, Angela Cox, Serena Sanna, Nicola Pirastu, Anna Jakubowska, Paul D.P. Pharoah, David J. Porteous, Dragana Vuckovic, Andrea D. Coviello, Giorgia Girotto, Sara Lindstroem, Patrick Sulem, Astrid Petersmann, Xin Li, Maartje J. Hooning, Lili Milani, Sven Bergmann, Marek Zygmunt, Javier Benitez, Vilmundur Gudnason, Fernando Rivadeneira, Volker Arndt, Marina Ciullo, Caroline Hayward, Sheila Ulivi, Janet E. Olson, Hoda Anton-Culver, Maria Kabisch, Sara Margolin, Vessela N. Kristensen, Patrick F. McArdle, Tanguy Corre, Nora Franceschini, Veli-Matti Kosma, Hiltrud Brauch, Roger L. Milne, Eric Boerwinkle, Matthias W. Beckmann, Charles Kooperberg, Qin Wang, Jessica D. Faul, Stephen J. Chanock, Alexander Teumer, Mark O. Goodarzi, Unnur Thorsteinsdottir, R Maegi, Paul M. Ridker, Antonis C. Antoniou, Ozren Polasek, Daniel F. Gudbjartsson, Barbara McKnight, Melissa E. Garcia, Manjeet K. Bolla, Alanna C. Morrison, Paolo Radice, Xiuqing Guo, Lude L. Franke, Michela Traglia, Marjanka K. Schmidt, Heli Nevanlinna, Teresa Nutile, Cinzia Sala, Pascal Guénel, Jennifer E. Huffman, Stephen T. Turner, Anna Murray, Carl Blomqvist, Margaux F. Keller, Samuel E. Jones, Montserrat Garcia-Closas, Ivana Kolcic, Anne B. Newman, Jan Lubinski, Albert Hofman, Isabel dos-Santos-Silva, Hilary K. Finucane, Anne Lise Børresen-Dale, Alexander P. Reiner, Tim D. Spector, Gonneke Willemsen, John D. Eicher, Douglas F. Easton, Claudia Langenberg, Anthony J. Swerdlow, Natalia Bogdanova, Alison M. Dunning, Giorgio Pistis, Tõnu Esko, Behrooz Z. Alizadeh, Martina Mueller-Nurasyid, Eleonora Porcu, Laura M. Yerges-Armstrong, Leslie J. Raffel, Laura Crisponi, Gonçalo R. Abecasis, Jerome I. Rotter, Yii-Der Ida Chen, Antonietta Robino, Katri Pylkaes, Ken K. Ong, Thibaud Boutin, Elinor J. Sawyer, Daniel I. Chasman, Brian E. Henderson, Frank B. Hu, Leslie Bernstein, Drakoulis Yannoukakos, Tamara B. Harris, Dorret I. Boomsma, Katherine S. Ruth, Jie Yao, Keith Humphreys, Jennifer A. Smith, Elisabeth Altmaier, Ulrike Peters, Doris Stoeckl, Eva Albrecht, Tatijana Zemunik, Jenny A. Visser, Minouk J. Schoemaker, Diego Vozzi, Thilo Doerk, J. Ross Chapman, Irene L. Andrulis, Joanne M. Murabito, Alan F. Wright, Lisette Stolk, Jonathan Marten, Alice M. Arnold, Paolo Peterlongo, Harry Campbell, Natalia Pervjakova, Jingmei Li, Jennifer Kriebel, Alicia Beeghly-Fadiel, Immaculata De Vivo, Jouke-Jan Hottenga, Kari Stefansson, Cornelia M. van Duijn, Brendan Bulik-Sullivan, Evelin Mihailov, Chunyan He, Joe Dennis, Nicholas J. Wareham, Yongmei Liu, Sharon L.R. Kardia, Lynda M. Rose, Felix R. Day, Georgia Chenevix-Trench, Albert V. Smith, David J. Hunter, Sandosh Padmanabhan, Christian Gieger, Konstantin Strauch, Igor Rudan, Jacques Simard, Jian'an Luan, Robert A. Scott, Kyriaki Michailidou, Bruce M. Psaty, Per Hall, Suzette J. Bielinski, Rita K. Schmutzler, Julian Peto, Ellen W. Demerath, Ursula M. Schick, Rossella Sorice, Wei Zhao, Børge G. Nordestgaard, Andres Metspalu, Jonine D. Figueroa, Julia A. Knight, Barbara Burwinkel, Thomas Bruening, Judith Manz, Anna González-Neira, Ilaria Gandin, Ian Tomlinson, Thérèse Truong, Kent D. Taylor, Amanda E. Toland, Deborah J. Thompson, Alfons Meindl, Caroline M. Seynaeve, Benjamin M. Neale, Fergus J. Couch, Mike A. Nalls, Ute Hamann, Kamila Czene, John L. Hopper, Bruce H. R. Wolffenbuttel, Grant W. Montgomery, Hatef Darabi, Daniela Toniolo, Jinyan Huang, Peter Devilee, Cathy E. Elks, David Schlessinger, Luigi Ferrucci, Frank Schmidt, Peter A. Fasching, Diether Lambrechts, Najaf Amin

Publikováno v: Day, F R, Ruth, K S, Thompson, D J, Lunetta, K L, Pervjakova, N, Chasman, D I, Stolk, L, Finucane, H K, Sulem, P, Bulik-Sullivan, B K, Esko, T, Johnson, A D, Elks, C E, Franceschini, N, He, C, Altmaier, E, Brody, J A, Franke, L L, Huffman, J E, Keller, M F, McArdle, P F, Nutile, T, Porcu, E, Robino, A, Rose, L M, Schick, U M, Smith, J A, Teumer, A, Traglia, M, Vuckovic, D, Yao, J, Zhao, W, Albrecht, E, Amin, N, Corre, T, Hottenga, J J, Mangino, M, Smith, A V, Tanaka, T, Abecasis, G R, Andrulis, I L, Anton-Culver, H, Antoniou, A C, Arndt, V, Arnold, A M, Barbieri, C, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bernstein, L, Bielinski, S J, Blomqvist, C, Boerwinkle, E, Bogdanova, N V, Bojesen, S E, Bolla, M K, Borresen-Dale, A L, Boutin, T S, Brauch, H, Brenner, H, Brüning, T, Burwinkel, B, Campbell, A, Campbell, H, Chanock, S J, Chapman, J R, Ida Chen, Y D, Chenevix-Trench, G, Couch, F J, Coviello, A D, Cox, A, Czene, K, Darabi, H, De Vivo, I, Demerath, E W, Dennis, J, Devilee, P, Dörk, T, dos-Santos-Silva, I, Dunning, A M, Eicher, J D, Fasching, P A, Faul, J D, Figueroa, J, Flesch-Janys, D, Gandin, I, Garcia, M E, García-Closas, M, Giles, G G, Girotto, G G, Goldberg, M S, González-Neira, A, Goodarzi, M O, Grove, M L, Gudbjartsson, D F, Guénel, P, Guo, X, Haiman, C A, Hall, P, Hamann, U, Henderson, B E, Hocking, L J, Hofman, A, Homuth, G, Hooning, M J, Hopper, J L, Hu, F B, Huang, J, Humphreys, K, Hunter, D J, Jakubowska, A, Jones, S E, Kabisch, M, Karasik, D, Knight, J A, Kolcic, I, Kooperberg, C, Kosma, V M, Kriebel, J, Kristensen, V, Lambrechts, D, Langenberg, C, Li, J, Li, X, Lindström, S, Liu, Y, Luan, J, Lubinski, J, Mägi, R, Mannermaa, A, Manz, J, Margolin, S, Marten, J, Martin, N G, Masciullo, C, Meindl, A, Michailidou, K, Mihailov, E, Milani, L, Milne, R L, Müller-Nurasyid, M, Nalls, M, Neale, B M, Nevanlinna, H, Neven, P, Newman, A B, Nordestgaard, B G, Olson, J E, Padmanabhan, S, Peterlongo, P, Peters, U, Petersmann, A, Peto, J, Pharoah, P D P, Pirastu, N N, Pirie, A, Pistis, G, Polasek, O, Porteous, D, Psaty, B M, Pylkäs, K, Radice, P, Raffel, L J, Rivadeneira, F, Rudan, I, Rudolph, A, Ruggiero, D, Sala, C F, Sanna, S, Sawyer, E J, Schlessinger, D, Schmidt, M K, Schmidt, F, Schmutzler, R K, Schoemaker, M J, Scott, R A, Seynaeve, C M, Simard, J, Sorice, R, Southey, M C, Stöckl, D, Strauch, K, Swerdlow, A, Taylor, K D, Thorsteinsdottir, U, Toland, A E, Tomlinson, I, Truong, T, Tryggvadottir, L, Turner, S T, Vozzi, D, Wang, Q, Wellons, M, Willemsen, G, Wilson, J F, Winqvist, R, Wolffenbuttel, B H R, Wright, A F, Yannoukakos, D, Zemunik, T, Zheng, W, Zygmunt, M, Bergmann, S, Boomsma, D I, Buring, J E, Ferrucci, L, Montgomery, G W, Gudnason, V, Spector, T D, van Duijn, C M, Alizadeh, BZ, Ciullo, M, Crisponi, L, Easton, D F, Gasparini, P P, Gieger, C, Harris, T B, Hayward, C, Kardia, S L R, Kraft, P, McKnight, B, Metspalu, A, Morrison, A C, Reiner, A P, Ridker, P M, Rotter, J I, Toniolo, D, Uitterlinden, A G, Ulivi, S, Völzke, H, Wareham, N J, Weir, D R, Yerges-Armstrong, L M, Price, A L, Stefansson, K, Visser, J A, Ong, K K, Chang-Claude, J, Murabito, J M M, Perry, J R B & Murray, A 2015, ' Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair ', Nature Genetics, vol. 47, no. 11, pp. 1294-1303 . https://doi.org/10.1038/ng.3412
Nature Genetics, 47(11), 1294-+. Nature Publishing Group
Nature Genetics, 47(11), 1294-1303. Nature Publishing Group
Nature Genetics, 47(11), 1294
Nature genetics
47 (2015): 1294–1303. doi:10.1038/ng.3412
info:cnr-pdr/source/autori:Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E, Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin N, Corre T, Hottenga JJ, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B, Campbell A, Campbell H, Chanock SJ, Chapman JR, Chen YI, Chenevix-Trench G, Couch FJ, Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D, Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A, Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U, Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J, Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I, Kooperberg C, Kosma VM, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X, Lindström S, Liu Y, Luan J, Lubinski J, Mägi R, Mannermaa A, Manz J, Margolin S, Marten J, Martin NG, Masciullo C, Meindl A, Michailidou K, Mihailov E, Milani L, Milne RL, Müller-Nurasyid M, Nalls M, Neale BM, Nevanlinna H, Neven P, Newman AB, Nordestgaard BG, Olson JE, Padmanabhan S, Peterlongo P, Peters U, Petersmann A, Peto J, Pharoah PD, Pirastu NN, Pirie A, Pistis G, Polasek O, Porteous D, Psaty BM, Pylkäs K, Radice P, Raffel LJ, Rivadeneira F, Rudan I, Rudolph A, Ruggiero D, Sala CF, Sanna S, Sawyer EJ, Schlessinger D, Schmidt MK, Schmidt F, Schmutzler RK, Schoemaker MJ, Scott RA, Seynaeve CM, Simard J, Sorice R, Southey MC, Stöckl D, Strauch K, Swerdlow A, Taylor KD, Thorsteinsdottir U, Toland AE, Tomlinson I, Truong T, Tryggvadottir L, Turner ST, Vozzi D, Wang Q, Wellons M, Willemsen G, Wilson JF, Winqvist R, Wolffenbuttel BB, Wright AF, Yannoukakos D, Zemunik T, Zheng W, Zygmunt M, Bergmann S, Boomsma DI, Buring JE, Ferrucci L, Montgomery GW, Gudnason V, Spector TD, van Duijn CM, Alizadeh BZ, Ciullo M, Crisponi L, Easton DF, Gasparini PP, Gieger C, Harris TB, Hayward C, Kardia SL, Kraft P, McKnight B, Metspalu A, Morrison AC, Reiner AP, Ridker PM, Rotter JI, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Weir DR, Yerges-Armstrong LM; PRACTICAL Consortium; kConFab Investigators; AOCS Investigators; Generation Scotland; EPIC-InterAct Consortium; LifeLines Cohort Study, Price AL, Stefansson K, Visser JA, Ong KK, Chang-Claude J, Murabito JM, Perry JR, Murray A./titolo:Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair./doi:10.1038%2Fng.3412/rivista:Nature genetics (Print)/anno:2015/pagina_da:1294/pagina_a:1303/intervallo_pagine:1294–1303/volume:47
Nature Genetics, vol. 47, no. 11, pp. 1294-1303
Nature Genetics, 47(11), 1294-303. Nature Publishing Group
Day, F R, Ruth, K S, Thompson, D J, Lunetta, K L, Pervjakova, N, Chasman, D I, Stolk, L, Finucane, H K, Sulem, P, Bulik-Sullivan, B, Esko, T, Johnson, A D, Elks, C E, Franceschini, N, He, C, Altmaier, E, Brody, J A, Franke, L L, Huffman, J E, Keller, M F, McArdle, P F, Nutile, T, Porcu, E, Robino, A, Rose, L M, Schick, U M, Smith, J A, Teumer, A, Traglia, M, Vuckovic, D, Yao, J, Zhao, W, Albrecht, E, Amin, N, Corre, T, Hottenga, J-J, Mangino, M, Smith, A V, Tanaka, T, Abecasis, G R, Andrulis, I L, Anton-Culver, H, Antoniou, A C, Arndt, V, Arnold, A M, Barbieri, C, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bernstein, L, Bielinski, S J, Blomqvist, C, Boerwinkle, E, Bogdanova, N V, Bojesen, S E, Bolla, M K, Borresen-Dale, A-L, Boutin, T S, Brauch, H, Brenner, H, Brüning, T, Burwinkel, B, Campbell, A, Campbell, H, Chanock, S J, Chapman, J R, Chen, Y-D I, Chenevix-Trench, G, Couch, F J, Coviello, A D, Cox, A, Czene, K, Darabi, H, De Vivo, I, Demerath, E W, Dennis, J, Devilee, P, Dörk, T, Dos-Santos-Silva, I, Dunning, A M, Eicher, J D, Fasching, P A, Faul, J D, Figueroa, J, Flesch-Janys, D, Gandin, I, Garcia, M E, García-Closas, M, Giles, G G, Girotto, G G, Goldberg, M S, González-Neira, A, Goodarzi, M O, Grove, M L, Gudbjartsson, D F, Guénel, P, Guo, X, Haiman, C A, Hall, P, Hamann, U, Henderson, B E, Hocking, L J, Hofman, A, Homuth, G, Hooning, M J, Hopper, J L, Hu, F B, Huang, J, Humphreys, K, Hunter, D J, Jakubowska, A, Jones, S E, Kabisch, M, Karasik, D, Knight, J A, Kolcic, I, Kooperberg, C, Kosma, V-M, Kriebel, J, Kristensen, V, Lambrechts, D, Langenberg, C, Li, J, Li, X, Lindström, S, Liu, Y, Luan, J, Lubinski, J, Mägi, R, Mannermaa, A, Manz, J, Margolin, S, Marten, J, Martin, N G, Masciullo, C, Meindl, A, Michailidou, K, Mihailov, E, Milani, L, Milne, R L, Müller-Nurasyid, M, Nalls, M, Neale, B M, Nevanlinna, H, Neven, P, Newman, A B, Nordestgaard, B G, Olson, J E, Padmanabhan, S, Peterlongo, P, Peters, U, Petersmann, A, Peto, J, Pharoah, P D P, Pirastu, N N, Pirie, A, Pistis, G, Polasek, O, Porteous, D, Psaty, B M, Pylkäs, K, Radice, P, Raffel, L J, Rivadeneira, F, Rudan, I, Rudolph, A, Ruggiero, D, Sala, C F, Sanna, S, Sawyer, E J, Schlessinger, D, Schmidt, M K, Schmidt, F, Schmutzler, R K, Schoemaker, M J, Scott, R A, Seynaeve, C M, Simard, J, Sorice, R, Southey, M C, Stöckl, D, Strauch, K, Swerdlow, A, Taylor, K D, Thorsteinsdottir, U, Toland, A E, Tomlinson, I, Truong, T, Tryggvadottir, L, Turner, S T, Vozzi, D, Wang, Q, Wellons, M, Willemsen, G, Wilson, J F, Winqvist, R, Wolffenbuttel, B B H R, Wright, A F, Yannoukakos, D, Zemunik, T, Zheng, W, Zygmunt, M, Bergmann, S, Boomsma, D I, Buring, J E, Ferrucci, L, Montgomery, G W, Gudnason, V, Spector, T D, van Duijn, C M, Alizadeh, B Z, Ciullo, M, Crisponi, L, Easton, D F, Gasparini, P P, Gieger, C, Harris, T B, Hayward, C, Kardia, S L R, Kraft, P, McKnight, B, Metspalu, A, Morrison, A C, Reiner, A P, Ridker, P M, Rotter, J I, Toniolo, D, Uitterlinden, A G, Ulivi, S, Völzke, H, Wareham, N J, Weir, D R, Yerges-Armstrong, L M, Consortium, PRACTICAL, Investigators, KC, Investigators, AOCS, Scotland, G, Consortium, EPIC-I, Study, L C, Price, A L, Stefansson, K, Visser, J A, Ong, K K, Chang-Claude, J, Murabito, J M, Perry, J R B & Murray, A 2015, ' Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair ', Nature Genetics, vol. 47, no. 11, pp. 1294—1303 . https://doi.org/10.1038/ng.3412

Menopause timing has a major impact on infertility and risk of disease. Younger age at natural (nonsurgical) menopause (ANM) is associated with a higher risk of osteoporosis, cardiovascular disease, and type 2 diabetes and a lower risk of breast canc

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