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1. "She Crushed the Child's Fragile Skull": Disease, Infanticide, and Enslaved Women in Eighteenth-Century Saint-Domingue

Author: Weaver, Karol K. (Karol Kimberlee)
Published: 2004
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2. Global maps of soil temperature

Author: Lembrechts, J. J. (Jonas J.), van den Hoogen, J. (Johan), Aalto, J. (Juha), Ashcroft, M. B. (Michael B.), De Frenne, P. (Pieter), Kemppinen, J. (Julia), Kopecky, M. (Martin), Luoto, M. (Miska), Maclean, I. M. (Ilya M. D.), Crowther, T. W. (Thomas W.), Bailey, J. J. (Joseph J.), Haesen, S. (Stef), Klinges, D. H. (David H.), Niittynen, P. (Pekka), Scheffers, B. R. (Brett R.), Van Meerbeek, K. (Koenraad), Aartsma, P. (Peter), Abdalaze, O. (Otar), Abedi, M. (Mehdi), Aerts, R. (Rien), Ahmadian, N. (Negar), Ahrends, A. (Antje), Alatalo, J. M. (Juha M.), Alexander, J. M. (Jake M.), Allonsius, C. N. (Camille Nina), Altman, J. (Jan), Ammann, C. (Christof), Andres, C. (Christian), Andrews, C. (Christopher), Ardo, J. (Jonas), Arriga, N. (Nicola), Arzac, A. (Alberto), Aschero, V. (Valeria), Assis, R. L. (Rafael L.), Assmann, J. J. (Jakob Johann), Bader, M. Y. (Maaike Y.), Bahalkeh, K. (Khadijeh), Barancok, P. (Peter), Barrio, I. C. (Isabel C.), Barros, A. (Agustina), Barthel, M. (Matti), Basham, E. W. (Edmund W.), Bauters, M. (Marijn), Bazzichetto, M. (Manuele), Marchesini, L. B. (Luca Belelli), Bell, M. C. (Michael C.), Benavides, J. C. (Juan C.), Benito Alonso, J. L. (Jose Luis), Berauer, B. J. (Bernd J.), Bjerke, J. W. (Jarle W.), Bjork, R. G. (Robert G.), Bjorkman, M. P. (Mats P.), Bjornsdottir, K. (Katrin), Blonder, B. (Benjamin), Boeckx, P. (Pascal), Boike, J. (Julia), Bokhorst, S. (Stef), Brum, B. N. (Barbara N. S.), Bruna, J. (Josef), Buchmann, N. (Nina), Buysse, P. (Pauline), Camargo, J. L. (Jose Luis), Campoe, O. C. (Otavio C.), Candan, O. (Onur), Canessa, R. (Rafaella), Cannone, N. (Nicoletta), Carbognani, M. (Michele), Carnicer, J. (Jofre), Casanova-Katny, A. (Angelica), Cesarz, S. (Simone), Chojnicki, B. (Bogdan), Choler, P. (Philippe), Chown, S. L. (Steven L.), Cifuentes, E. F. (Edgar F.), Ciliak, M. (Marek), Contador, T. (Tamara), Convey, P. (Peter), Cooper, E. J. (Elisabeth J.), Cremonese, E. (Edoardo), Curasi, S. R. (Salvatore R.), Curtis, R. (Robin), Cutini, M. (Maurizio), Dahlberg, C. J. (C. Johan), Daskalova, G. N. (Gergana N.), Angel de Pablo, M. (Miguel), Della Chiesa, S. (Stefano), Dengler, J. (Juergen), Deronde, B. (Bart), Descombes, P. (Patrice), Di Cecco, V. (Valter), Di Musciano, M. (Michele), Dick, J. (Jan), Dimarco, R. D. (Romina D.), Dolezal, J. (Jiri), Dorrepaal, E. (Ellen), Dusek, J. (Jiri), Eisenhauer, N. (Nico), Eklundh, L. (Lars), Erickson, T. E. (Todd E.), Erschbamer, B. (Brigitta), Eugster, W. (Werner), Ewers, R. M. (Robert M.), Exton, D. A. (Dan A.), Fanin, N. (Nicolas), Fazlioglu, F. (Fatih), Feigenwinter, I. (Iris), Fenu, G. (Giuseppe), Ferlian, O. (Olga), Fernandez Calzado, M. R. (M. Rosa), Fernandez-Pascual, E. (Eduardo), Finckh, M. (Manfred), Higgens, R. F. (Rebecca Finger), Forte, T. G. (T'ai G. W.), Freeman, E. C. (Erika C.), Frei, E. R. (Esther R.), Fuentes-Lillo, E. (Eduardo), Garcia, R. A. (Rafael A.), Garcia, M. B. (Maria B.), Geron, C. (Charly), Gharun, M. (Mana), Ghosn, D. (Dany), Gigauri, K. (Khatuna), Gobin, A. (Anne), Goded, I. (Ignacio), Goeckede, M. (Mathias), Gottschall, F. (Felix), Goulding, K. (Keith), Govaert, S. (Sanne), Graae, B. J. (Bente Jessen), Greenwood, S. (Sarah), Greiser, C. (Caroline), Grelle, A. (Achim), Guenard, B. (Benoit), Guglielmin, M. (Mauro), Guillemot, J. (Joannes), Haase, P. (Peter), Haider, S. (Sylvia), Halbritter, A. H. (Aud H.), Hamid, M. (Maroof), Hammerle, A. (Albin), Hampe, A. (Arndt), Haugum, S. V. (Siri, V), Hederova, L. (Lucia), Heinesch, B. (Bernard), Helfter, C. (Carole), Hepenstrick, D. (Daniel), Herberich, M. (Maximiliane), Herbst, M. (Mathias), Hermanutz, L. (Luise), Hik, D. S. (David S.), Hoffren, R. (Raul), Homeier, J. (Juergen), Hörtnagl, L. (Lukas), Hoye, T. T. (Toke T.), Hrbacek, F. (Filip), Hylander, K. (Kristoffer), Iwata, H. (Hiroki), Jackowicz-Korczynski, M. A. (Marcin Antoni), Jactel, H. (Herve), Jarveoja, J. (Jarvi), Jastrzebowski, S. (Szymon), Jentsch, A. (Anke), Jimenez, J. J. (Juan J.), Jonsdottir, I. S. (Ingibjorg S.), Jucker, T. (Tommaso), Jump, A. S. (Alistair S.), Juszczak, R. (Radoslaw), Kanka, R. (Robert), Kaspar, V. (Vit), Kazakis, G. (George), Kelly, J. (Julia), Khuroo, A. A. (Anzar A.), Klemedtsson, L. (Leif), Klisz, M. (Marcin), Kljun, N. (Natascha), Knohl, A. (Alexander), Kobler, J. (Johannes), Kollar, J. (Jozef), Kotowska, M. M. (Martyna M.), Kovacs, B. (Bence), Kreyling, J. (Juergen), Lamprecht, A. (Andrea), Lang, S. I. (Simone, I), Larson, C. (Christian), Larson, K. (Keith), Laska, K. (Kamil), Maire, G. I. (Guerric Ie), Leihy, R. I. (Rachel, I), Lens, L. (Luc), Liljebladh, B. (Bengt), Lohila, A. (Annalea), Lorite, J. (Juan), Loubet, B. (Benjamin), Lynn, J. (Joshua), Macek, M. (Martin), Mackenzie, R. (Roy), Magliulo, E. (Enzo), Maier, R. (Regine), Malfasi, F. (Francesco), Malis, F. (Frantisek), Man, M. (Matej), Manca, G. (Giovanni), Manco, A. (Antonio), Manise, T. (Tanguy), Manolaki, P. (Paraskevi), Marciniak, F. (Felipe), Matula, R. (Radim), Clara Mazzolari, A. (Ana), Medinets, S. (Sergiy), Medinets, V. (Volodymyr), Meeussen, C. (Camille), Merinero, S. (Sonia), Guimaraes Mesquita, R. d. (Rita de Cassia), Meusburger, K. (Katrin), Meysman, F. J. (Filip J. R.), Michaletz, S. T. (Sean T.), Milbau, A. (Ann), Moiseev, D. (Dmitry), Moiseev, P. (Pavel), Mondoni, A. (Andrea), Monfries, R. (Ruth), Montagnani, L. (Leonardo), Moriana-Armendariz, M. (Mikel), di Cella, U. M. (Umberto Morra), Moersdorf, M. (Martin), Mosedale, J. R. (Jonathan R.), Muffler, L. (Lena), Munoz-Rojas, M. (Miriam), Myers, J. A. (Jonathan A.), Myers-Smith, I. H. (Isla H.), Nagy, L. (Laszlo), Nardino, M. (Marianna), Naujokaitis-Lewis, I. (Ilona), Newling, E. (Emily), Nicklas, L. (Lena), Niedrist, G. (Georg), Niessner, A. (Armin), Nilsson, M. B. (Mats B.), Normand, S. (Signe), Nosetto, M. D. (Marcelo D.), Nouvellon, Y. (Yann), Nunez, M. A. (Martin A.), Ogaya, R. (Roma), Ogee, J. (Jerome), Okello, J. (Joseph), Olejnik, J. (Janusz), Olesen, J. E. (Jorgen Eivind), Opedal, O. H. (Oystein H.), Orsenigo, S. (Simone), Palaj, A. (Andrej), Pampuch, T. (Timo), Panov, A. V. (Alexey V.), Pärtel, M. (Meelis), Pastor, A. (Ada), Pauchard, A. (Aníbal), Pauli, H. (Harald), Pavelka, M. (Marian), Pearse, W. D. (William D.), Peichl, M. (Matthias), Pellissier, L. (Loïc), Penczykowski, R. M. (Rachel M.), Penuelas, J. (Josep), Petit Bon, M. (Matteo), Petraglia, A. (Alessandro), Phartyal, S. S. (Shyam S.), Phoenix, G. K. (Gareth K.), Pio, C. (Casimiro), Pitacco, A. (Andrea), Pitteloud, C. (Camille), Plichta, R. (Roman), Porro, F. (Francesco), Portillo-Estrada, M. (Miguel), Poulenard, J. (Jérôme), Poyatos, R. (Rafael), Prokushkin, A. S. (Anatoly S.), Puchalka, R. (Radoslaw), Pușcaș, M. (Mihai), Radujković, D. (Dajana), Randall, K. (Krystal), Ratier Backes, A. (Amanda), Remmele, S. (Sabine), Remmers, W. (Wolfram), Renault, D. (David), Risch, A. C. (Anita C.), Rixen, C. (Christian), Robinson, S. A. (Sharon A.), Robroek, B. J. (Bjorn J. M.), Rocha, A. V. (Adrian V.), Rossi, C. (Christian), Rossi, G. (Graziano), Roupsard, O. (Olivier), Rubtsov, A. V. (Alexey V.), Saccone, P. (Patrick), Sagot, C. (Clotilde), Sallo Bravo, J. (Jhonatan), Santos, C. C. (Cinthya C.), Sarneel, J. M. (Judith M.), Scharnweber, T. (Tobias), Schmeddes, J. (Jonas), Schmidt, M. (Marius), Scholten, T. (Thomas), Schuchardt, M. (Max), Schwartz, N. (Naomi), Scott, T. (Tony), Seeber, J. (Julia), Segalin De Andrade, A. C. (Ana Cristina), Seipel, T. (Tim), Semenchuk, P. (Philipp), Senior, R. A. (Rebecca A.), Serra-Diaz, J. M. (Josep M.), Sewerniak, P. (Piotr), Shekhar, A. (Ankit), Sidenko, N. V. (Nikita V.), Siebicke, L. (Lukas), Siegwart Collier, L. (Laura), Simpson, E. (Elizabeth), Siqueira, D. P. (David P.), Sitková, Z. (Zuzana), Six, J. (Johan), Smiljanic, M. (Marko), Smith, S. W. (Stuart W.), Smith-Tripp, S. (Sarah), Somers, B. (Ben), Sørensen, M. V. (Mia Vedel), Souza, J. J. (José João L. L.), Souza, B. I. (Bartolomeu Israel), Dias, A. S. (Arildo Souza), Spasojevic, M. J. (Marko J.), Speed, J. D. (James D. M.), Spicher, F. (Fabien), Stanisci, A. (Angela), Steinbauer, K. (Klaus), Steinbrecher, R. (Rainer), Steinwandter, M. (Michael), Stemkovski, M. (Michael), Stephan, J. G. (Jörg G.), Stiegler, C. (Christian), Stoll, S. (Stefan), Svátek, M. (Martin), Svoboda, M. (Miroslav), Tagesson, T. (Torbern), Tanentzap, A. J. (Andrew J.), Tanneberger, F. (Franziska), Theurillat, J.-P. (Jean-Paul), Thomas, H. J. (Haydn J. D.), Thomas, A. D. (Andrew D.), Tielbörger, K. (Katja), Tomaselli, M. (Marcello), Treier, U. A. (Urs Albert), Trouillier, M. (Mario), Turtureanu, P. D. (Pavel Dan), Tutton, R. (Rosamond), Tyystjärvi, V. A. (Vilna A.), Ueyama, M. (Masahito), Ujházy, K. (Karol), Ujházyová, M. (Mariana), Uogintas, D. (Domas), Urban, A. V. (Anastasiya V.), Urban, J. (Josef), Urbaniak, M. (Marek), Ursu, T.-M. (Tudor-Mihai), Vaccari, F. P. (Francesco Primo), Van De Vondel, S. (Stijn), Van Den Brink, L. (Liesbeth), Van Geel, M. (Maarten), Vandvik, V. (Vigdis), Vangansbeke, P. (Pieter), Varlagin, A. (Andrej), Veen, G. F. (G. F.), Veenendaal, E. (Elmar), Venn, S. E. (Susanna E.), Verbeeck, H. (Hans), Verbrugggen, E. (Erik), Verheijen, F. G. (Frank G. A.), Villar, L. (Luis), Vitale, L. (Luca), Vittoz, P. (Pascal), Vives-Ingla, M. (Maria), Von Oppen, J. (Jonathan), Walz, J. (Josefine), Wang, R. (Runxi), Wang, Y. (Yifeng), Way, R. G. (Robert G.), Wedegärtner, R. E. (Ronja E. M.), Weigel, R. (Robert), Wild, J. (Jan), Wilkinson, M. (Matthew), Wilmking, M. (Martin), Wingate, L. (Lisa), Winkler, M. (Manuela), Wipf, S. (Sonja), Wohlfahrt, G. (Georg), Xenakis, G. (Georgios), Yang, Y. (Yan), Yu, Z. (Zicheng), Yu, K. (Kailiang), Zellweger, F. (Florian), Zhang, J. (Jian), Zhang, Z. (Zhaochen), Zhao, P. (Peng), Ziemblińska, K. (Klaudia), Zimmermann, R. (Reiner), Zong, S. (Shengwei), Zyryanov, V. I. (Viacheslav I.), Nijs, I. (Ivan), Lenoir, J. (Jonathan), Lembrechts, J. J. (Jonas J.), van den Hoogen, J. (Johan), Aalto, J. (Juha), Ashcroft, M. B. (Michael B.), De Frenne, P. (Pieter), Kemppinen, J. (Julia), Kopecky, M. (Martin), Luoto, M. (Miska), Maclean, I. M. (Ilya M. D.), Crowther, T. W. (Thomas W.), Bailey, J. J. (Joseph J.), Haesen, S. (Stef), Klinges, D. H. (David H.), Niittynen, P. (Pekka), Scheffers, B. R. (Brett R.), Van Meerbeek, K. (Koenraad), Aartsma, P. (Peter), Abdalaze, O. (Otar), Abedi, M. (Mehdi), Aerts, R. (Rien), Ahmadian, N. (Negar), Ahrends, A. (Antje), Alatalo, J. M. (Juha M.), Alexander, J. M. (Jake M.), Allonsius, C. N. (Camille Nina), Altman, J. (Jan), Ammann, C. (Christof), Andres, C. (Christian), Andrews, C. (Christopher), Ardo, J. (Jonas), Arriga, N. (Nicola), Arzac, A. (Alberto), Aschero, V. (Valeria), Assis, R. L. (Rafael L.), Assmann, J. J. (Jakob Johann), Bader, M. Y. (Maaike Y.), Bahalkeh, K. (Khadijeh), Barancok, P. (Peter), Barrio, I. C. (Isabel C.), Barros, A. (Agustina), Barthel, M. (Matti), Basham, E. W. (Edmund W.), Bauters, M. (Marijn), Bazzichetto, M. (Manuele), Marchesini, L. B. (Luca Belelli), Bell, M. C. (Michael C.), Benavides, J. C. (Juan C.), Benito Alonso, J. L. (Jose Luis), Berauer, B. J. (Bernd J.), Bjerke, J. W. (Jarle W.), Bjork, R. G. (Robert G.), Bjorkman, M. P. (Mats P.), Bjornsdottir, K. (Katrin), Blonder, B. (Benjamin), Boeckx, P. (Pascal), Boike, J. (Julia), Bokhorst, S. (Stef), Brum, B. N. (Barbara N. S.), Bruna, J. (Josef), Buchmann, N. (Nina), Buysse, P. (Pauline), Camargo, J. L. (Jose Luis), Campoe, O. C. (Otavio C.), Candan, O. (Onur), Canessa, R. (Rafaella), Cannone, N. (Nicoletta), Carbognani, M. (Michele), Carnicer, J. (Jofre), Casanova-Katny, A. (Angelica), Cesarz, S. (Simone), Chojnicki, B. (Bogdan), Choler, P. (Philippe), Chown, S. L. (Steven L.), Cifuentes, E. F. (Edgar F.), Ciliak, M. (Marek), Contador, T. (Tamara), Convey, P. (Peter), Cooper, E. J. (Elisabeth J.), Cremonese, E. (Edoardo), Curasi, S. R. (Salvatore R.), Curtis, R. (Robin), Cutini, M. (Maurizio), Dahlberg, C. J. (C. Johan), Daskalova, G. N. (Gergana N.), Angel de Pablo, M. (Miguel), Della Chiesa, S. (Stefano), Dengler, J. (Juergen), Deronde, B. (Bart), Descombes, P. (Patrice), Di Cecco, V. (Valter), Di Musciano, M. (Michele), Dick, J. (Jan), Dimarco, R. D. (Romina D.), Dolezal, J. (Jiri), Dorrepaal, E. (Ellen), Dusek, J. (Jiri), Eisenhauer, N. (Nico), Eklundh, L. (Lars), Erickson, T. E. (Todd E.), Erschbamer, B. (Brigitta), Eugster, W. (Werner), Ewers, R. M. (Robert M.), Exton, D. A. (Dan A.), Fanin, N. (Nicolas), Fazlioglu, F. (Fatih), Feigenwinter, I. (Iris), Fenu, G. (Giuseppe), Ferlian, O. (Olga), Fernandez Calzado, M. R. (M. Rosa), Fernandez-Pascual, E. (Eduardo), Finckh, M. (Manfred), Higgens, R. F. (Rebecca Finger), Forte, T. G. (T'ai G. W.), Freeman, E. C. (Erika C.), Frei, E. R. (Esther R.), Fuentes-Lillo, E. (Eduardo), Garcia, R. A. (Rafael A.), Garcia, M. B. (Maria B.), Geron, C. (Charly), Gharun, M. (Mana), Ghosn, D. (Dany), Gigauri, K. (Khatuna), Gobin, A. (Anne), Goded, I. (Ignacio), Goeckede, M. (Mathias), Gottschall, F. (Felix), Goulding, K. (Keith), Govaert, S. (Sanne), Graae, B. J. (Bente Jessen), Greenwood, S. (Sarah), Greiser, C. (Caroline), Grelle, A. (Achim), Guenard, B. (Benoit), Guglielmin, M. (Mauro), Guillemot, J. (Joannes), Haase, P. (Peter), Haider, S. (Sylvia), Halbritter, A. H. (Aud H.), Hamid, M. (Maroof), Hammerle, A. (Albin), Hampe, A. (Arndt), Haugum, S. V. (Siri, V), Hederova, L. (Lucia), Heinesch, B. (Bernard), Helfter, C. (Carole), Hepenstrick, D. (Daniel), Herberich, M. (Maximiliane), Herbst, M. (Mathias), Hermanutz, L. (Luise), Hik, D. S. (David S.), Hoffren, R. (Raul), Homeier, J. (Juergen), Hörtnagl, L. (Lukas), Hoye, T. T. (Toke T.), Hrbacek, F. (Filip), Hylander, K. (Kristoffer), Iwata, H. (Hiroki), Jackowicz-Korczynski, M. A. (Marcin Antoni), Jactel, H. (Herve), Jarveoja, J. (Jarvi), Jastrzebowski, S. (Szymon), Jentsch, A. (Anke), Jimenez, J. J. (Juan J.), Jonsdottir, I. S. (Ingibjorg S.), Jucker, T. (Tommaso), Jump, A. S. (Alistair S.), Juszczak, R. (Radoslaw), Kanka, R. (Robert), Kaspar, V. (Vit), Kazakis, G. (George), Kelly, J. (Julia), Khuroo, A. A. (Anzar A.), Klemedtsson, L. (Leif), Klisz, M. (Marcin), Kljun, N. (Natascha), Knohl, A. (Alexander), Kobler, J. (Johannes), Kollar, J. (Jozef), Kotowska, M. M. (Martyna M.), Kovacs, B. (Bence), Kreyling, J. (Juergen), Lamprecht, A. (Andrea), Lang, S. I. (Simone, I), Larson, C. (Christian), Larson, K. (Keith), Laska, K. (Kamil), Maire, G. I. (Guerric Ie), Leihy, R. I. (Rachel, I), Lens, L. (Luc), Liljebladh, B. (Bengt), Lohila, A. (Annalea), Lorite, J. (Juan), Loubet, B. (Benjamin), Lynn, J. (Joshua), Macek, M. (Martin), Mackenzie, R. (Roy), Magliulo, E. (Enzo), Maier, R. (Regine), Malfasi, F. (Francesco), Malis, F. (Frantisek), Man, M. (Matej), Manca, G. (Giovanni), Manco, A. (Antonio), Manise, T. (Tanguy), Manolaki, P. (Paraskevi), Marciniak, F. (Felipe), Matula, R. (Radim), Clara Mazzolari, A. (Ana), Medinets, S. (Sergiy), Medinets, V. (Volodymyr), Meeussen, C. (Camille), Merinero, S. (Sonia), Guimaraes Mesquita, R. d. (Rita de Cassia), Meusburger, K. (Katrin), Meysman, F. J. (Filip J. R.), Michaletz, S. T. (Sean T.), Milbau, A. (Ann), Moiseev, D. (Dmitry), Moiseev, P. (Pavel), Mondoni, A. (Andrea), Monfries, R. (Ruth), Montagnani, L. (Leonardo), Moriana-Armendariz, M. (Mikel), di Cella, U. M. (Umberto Morra), Moersdorf, M. (Martin), Mosedale, J. R. (Jonathan R.), Muffler, L. (Lena), Munoz-Rojas, M. (Miriam), Myers, J. A. (Jonathan A.), Myers-Smith, I. H. (Isla H.), Nagy, L. (Laszlo), Nardino, M. (Marianna), Naujokaitis-Lewis, I. (Ilona), Newling, E. (Emily), Nicklas, L. (Lena), Niedrist, G. (Georg), Niessner, A. (Armin), Nilsson, M. B. (Mats B.), Normand, S. (Signe), Nosetto, M. D. (Marcelo D.), Nouvellon, Y. (Yann), Nunez, M. A. (Martin A.), Ogaya, R. (Roma), Ogee, J. (Jerome), Okello, J. (Joseph), Olejnik, J. (Janusz), Olesen, J. E. (Jorgen Eivind), Opedal, O. H. (Oystein H.), Orsenigo, S. (Simone), Palaj, A. (Andrej), Pampuch, T. (Timo), Panov, A. V. (Alexey V.), Pärtel, M. (Meelis), Pastor, A. (Ada), Pauchard, A. (Aníbal), Pauli, H. (Harald), Pavelka, M. (Marian), Pearse, W. D. (William D.), Peichl, M. (Matthias), Pellissier, L. (Loïc), Penczykowski, R. M. (Rachel M.), Penuelas, J. (Josep), Petit Bon, M. (Matteo), Petraglia, A. (Alessandro), Phartyal, S. S. (Shyam S.), Phoenix, G. K. (Gareth K.), Pio, C. (Casimiro), Pitacco, A. (Andrea), Pitteloud, C. (Camille), Plichta, R. (Roman), Porro, F. (Francesco), Portillo-Estrada, M. (Miguel), Poulenard, J. (Jérôme), Poyatos, R. (Rafael), Prokushkin, A. S. (Anatoly S.), Puchalka, R. (Radoslaw), Pușcaș, M. (Mihai), Radujković, D. (Dajana), Randall, K. (Krystal), Ratier Backes, A. (Amanda), Remmele, S. (Sabine), Remmers, W. (Wolfram), Renault, D. (David), Risch, A. C. (Anita C.), Rixen, C. (Christian), Robinson, S. A. (Sharon A.), Robroek, B. J. (Bjorn J. M.), Rocha, A. V. (Adrian V.), Rossi, C. (Christian), Rossi, G. (Graziano), Roupsard, O. (Olivier), Rubtsov, A. V. (Alexey V.), Saccone, P. (Patrick), Sagot, C. (Clotilde), Sallo Bravo, J. (Jhonatan), Santos, C. C. (Cinthya C.), Sarneel, J. M. (Judith M.), Scharnweber, T. (Tobias), Schmeddes, J. (Jonas), Schmidt, M. (Marius), Scholten, T. (Thomas), Schuchardt, M. (Max), Schwartz, N. (Naomi), Scott, T. (Tony), Seeber, J. (Julia), Segalin De Andrade, A. C. (Ana Cristina), Seipel, T. (Tim), Semenchuk, P. (Philipp), Senior, R. A. (Rebecca A.), Serra-Diaz, J. M. (Josep M.), Sewerniak, P. (Piotr), Shekhar, A. (Ankit), Sidenko, N. V. (Nikita V.), Siebicke, L. (Lukas), Siegwart Collier, L. (Laura), Simpson, E. (Elizabeth), Siqueira, D. P. (David P.), Sitková, Z. (Zuzana), Six, J. (Johan), Smiljanic, M. (Marko), Smith, S. W. (Stuart W.), Smith-Tripp, S. (Sarah), Somers, B. (Ben), Sørensen, M. V. (Mia Vedel), Souza, J. J. (José João L. L.), Souza, B. I. (Bartolomeu Israel), Dias, A. S. (Arildo Souza), Spasojevic, M. J. (Marko J.), Speed, J. D. (James D. M.), Spicher, F. (Fabien), Stanisci, A. (Angela), Steinbauer, K. (Klaus), Steinbrecher, R. (Rainer), Steinwandter, M. (Michael), Stemkovski, M. (Michael), Stephan, J. G. (Jörg G.), Stiegler, C. (Christian), Stoll, S. (Stefan), Svátek, M. (Martin), Svoboda, M. (Miroslav), Tagesson, T. (Torbern), Tanentzap, A. J. (Andrew J.), Tanneberger, F. (Franziska), Theurillat, J.-P. (Jean-Paul), Thomas, H. J. (Haydn J. D.), Thomas, A. D. (Andrew D.), Tielbörger, K. (Katja), Tomaselli, M. (Marcello), Treier, U. A. (Urs Albert), Trouillier, M. (Mario), Turtureanu, P. D. (Pavel Dan), Tutton, R. (Rosamond), Tyystjärvi, V. A. (Vilna A.), Ueyama, M. (Masahito), Ujházy, K. (Karol), Ujházyová, M. (Mariana), Uogintas, D. (Domas), Urban, A. V. (Anastasiya V.), Urban, J. (Josef), Urbaniak, M. (Marek), Ursu, T.-M. (Tudor-Mihai), Vaccari, F. P. (Francesco Primo), Van De Vondel, S. (Stijn), Van Den Brink, L. (Liesbeth), Van Geel, M. (Maarten), Vandvik, V. (Vigdis), Vangansbeke, P. (Pieter), Varlagin, A. (Andrej), Veen, G. F. (G. F.), Veenendaal, E. (Elmar), Venn, S. E. (Susanna E.), Verbeeck, H. (Hans), Verbrugggen, E. (Erik), Verheijen, F. G. (Frank G. A.), Villar, L. (Luis), Vitale, L. (Luca), Vittoz, P. (Pascal), Vives-Ingla, M. (Maria), Von Oppen, J. (Jonathan), Walz, J. (Josefine), Wang, R. (Runxi), Wang, Y. (Yifeng), Way, R. G. (Robert G.), Wedegärtner, R. E. (Ronja E. M.), Weigel, R. (Robert), Wild, J. (Jan), Wilkinson, M. (Matthew), Wilmking, M. (Martin), Wingate, L. (Lisa), Winkler, M. (Manuela), Wipf, S. (Sonja), Wohlfahrt, G. (Georg), Xenakis, G. (Georgios), Yang, Y. (Yan), Yu, Z. (Zicheng), Yu, K. (Kailiang), Zellweger, F. (Florian), Zhang, J. (Jian), Zhang, Z. (Zhaochen), Zhao, P. (Peng), Ziemblińska, K. (Klaudia), Zimmermann, R. (Reiner), Zong, S. (Shengwei), Zyryanov, V. I. (Viacheslav I.), Nijs, I. (Ivan), and Lenoir, J. (Jonathan)
Abstract: Research in global change ecology relies heavily on global climatic grids derived from estimates of air temperature in open areas at around 2 m above the ground. These climatic grids do not reflect conditions below vegetation canopies and near the ground surface, where critical ecosystem functions occur and most terrestrial species reside. Here, we provide global maps of soil temperature and bioclimatic variables at a 1-km² resolution for 0‐5 and 5‐15 cm soil depth. These maps were created by calculating the difference (i.e. offset) between in situ soil temperature measurements, based on time series from over 1200 1‐km² pixels (summarized from 8519 unique temperature sensors) across all the world’s major terrestrial biomes, and coarse-grained air temperature estimates from ERA5-Land (an atmospheric reanalysis by the European Centre for Medium-Range Weather Forecasts). We show that mean annual soil temperature differs markedly from the corresponding gridded air temperature, by up to 10° degrees C (mean = 3.0 +/‐ 2.1° degrees C), with substantial variation across biomes and seasons. Over the year, soils in cold and/or dry biomes are substantially warmer (+3.6 +/‐2.3° degrees C) than gridded air temperature, whereas soils in warm and humid environments are on average slightly cooler (‐0.7 +/‐ 2.3° degrees C). The observed substantial and biome-specific offsets emphasize that the projected impacts of climate and climate change on near-surface biodiversity and ecosystem functioning are inaccurately assessed when air rather than soil temperature is used, especially in cold environments. The global soil-related bioclimatic variables provided here are an important step forward for any application in ecology and related disciplines. Nevertheless, we highlight the need to fill remaining geographic gaps by collecting more in situ measurements of microclimate conditions to further enhance the spatiotemporal resolution of global soil temperature products for ecological
Published: 2022

3. Human impacts and their interactions in the Baltic Sea region

Author: Reckermann, M. (Marcus), Omstedt, A. (Anders), Soomere, T. (Tarmo), Aigars, J. (Juris), Akhtar, N. (Naveed), Bełdowska, M. (Magdalena), Bełdowski, J. (Jacek), Cronin, T. (Tom), Czub, M. (Michał), Eero, M. (Margit), Hyytiäinen, K. P. (Kari Petri), Jalkanen, J.-P. (Jukka-Pekka), Kiessling, A. (Anders), Kjellström, E. (Erik), Kuliński, K. (Karol), Larsén, X. G. (Xiaoli Guo), McCrackin, M. (Michelle), Meier, H. E. (H. E. Markus), Oberbeckmann, S. (Sonja), Parnell, K. (Kevin), Pons-Seres de Brauwer, C. (Cristian), Poska, A. (Anneli), Saarinen, J. (Jarkko), Szymczycha, B. (Beata), Undeman, E. (Emma), Wörman, A. (Anders), Zorita, E. (Eduardo), Reckermann, M. (Marcus), Omstedt, A. (Anders), Soomere, T. (Tarmo), Aigars, J. (Juris), Akhtar, N. (Naveed), Bełdowska, M. (Magdalena), Bełdowski, J. (Jacek), Cronin, T. (Tom), Czub, M. (Michał), Eero, M. (Margit), Hyytiäinen, K. P. (Kari Petri), Jalkanen, J.-P. (Jukka-Pekka), Kiessling, A. (Anders), Kjellström, E. (Erik), Kuliński, K. (Karol), Larsén, X. G. (Xiaoli Guo), McCrackin, M. (Michelle), Meier, H. E. (H. E. Markus), Oberbeckmann, S. (Sonja), Parnell, K. (Kevin), Pons-Seres de Brauwer, C. (Cristian), Poska, A. (Anneli), Saarinen, J. (Jarkko), Szymczycha, B. (Beata), Undeman, E. (Emma), Wörman, A. (Anders), and Zorita, E. (Eduardo)
Abstract: Coastal environments, in particular heavily populated semi-enclosed marginal seas and coasts like the Baltic Sea region, are strongly affected by human activities. A multitude of human impacts, including climate change, affect the different compartments of the environment, and these effects interact with each other. As part of the Baltic Earth Assessment Reports (BEAR), we present an inventory and discussion of different human-induced factors and processes affecting the environment of the Baltic Sea region, and their interrelations. Some are naturally occurring and modified by human activities (i.e. climate change, coastal processes, hypoxia, acidification, submarine groundwater discharges, marine ecosystems, non-indigenous species, land use and land cover), some are completely human-induced (i.e. agriculture, aquaculture, fisheries, river regulations, offshore wind farms, shipping, chemical contamination, dumped warfare agents, marine litter and microplastics, tourism, and coastal management), and they are all interrelated to different degrees. We present a general description and analysis of the state of knowledge on these interrelations. Our main insight is that climate change has an overarching, integrating impact on all of the other factors and can be interpreted as a background effect, which has different implications for the other factors. Impacts on the environment and the human sphere can be roughly allocated to anthropogenic drivers such as food production, energy production, transport, industry and economy. The findings from this inventory of available information and analysis of the different factors and their interactions in the Baltic Sea region can largely be transferred to other comparable marginal and coastal seas in the world.
Published: 2022

4. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Author: Natarajan, P. (Pradeep), Pampana, A. (Akhil), Graham, S. E. (Sarah E.), Ruotsalainen, S. E. (Sanni E.), Perry, J. A. (James A.), de Vries, P. S. (Paul S.), Broome, J. G. (Jai G.), Pirruccello, J. P. (James P.), Honigbere, M. C. (Michael C.), Aragam, K. (Krishna), Wolford, B. (Brooke), Brody, J. A. (Jennifer A.), Antonacci-Fulton, L. (Lucinda), Arden, M. (Moscati), Aslibekyan, S. (Stella), Assimes, T. L. (Themistocles L.), Ballantyne, C. M. (Christie M.), Bielak, L. F. (Lawrence F.), Bisl, J. C. (Joshua C.), Cade, B. E. (Brian E.), Do, R. (Ron), Doddapaneni, H. (Harsha), Emery, L. S. (Leslie S.), Hung, Y.-J. (Yi-Jen), Irvin, M. R. (Marguerite R.), Khan, A. T. (Alyna T.), Lange, L. (Leslie), Lee, J. (Jiwon), Lemaitre, R. N. (Rozenn N.), Martin, L. W. (Lisa W.), Metcalf, G. (Ginger), Montasser, M. E. (May E.), Moon, J.-Y. (Jee-Young), Muzny, D. (Donna), Connell, J. R. (Jeffrey R. O.), Palmer, N. D. (Nicholette D.), Peralta, J. M. (Juan M.), Peyser, P. A. (Patricia A.), Stilp, A. M. (Adrienne M.), Tsai, M. (Michael), Wang, F. F. (Fei Fei), Weeks, D. E. (Daniel E.), Yanek, L. R. (Lisa R.), Wilson, J. G. (James G.), Abecasis, G. (Goncalo), Arnett, D. K. (Donna K.), Becker, L. C. (Lewis C.), Blangercy, J. (John), Boerwinkle, E. (Eric), Bowden, D. W. (Donald W.), Chang, Y.-C. (Yi-Cheng), Chen, Y. I. (Yii-Der, I), Choi, W. J. (Won Jung), Correa, A. (Adolfo), Curran, J. E. (Joanne E.), Daly, M. J. (Mark J.), DutcherE, S. K. (Susan K.), Ellinor, P. T. (Patrick T.), Fornage, M. (Myriam), Freedman, B. I. (Barry, I), Gabriel, S. (Stacey), Germer, S. (Soren), Gibbs, R. A. (Richard A.), He, J. (Jiang), Hveem, K. (Kristian), Jarvik, G. P. (Gail P.), Kaplan, R. C. (Robert C.), Kardia, S. L. (Sharon L. R.), Kennyn, E. (Eimear), Kim, R. W. (Ryan W.), Kooperberg, C. (Charles), Laurie, C. C. (Cathy C.), Lee, S. (Seonwook), Lloyd-Jones, D. M. (Don M.), Loos, R. J. (Ruth J. F.), Lubitz, S. A. (Steven A.), Mathias, R. A. (Rasika A.), Martinez, K. A. (Karine A. Viaud), McGarvey, S. T. (Stephen T.), Mitche, B. D. (Braxton D.), Nickerson, D. A. (Deborah A.), North, K. E. (Kari E.), Palotie, A. (Aarno), Park, C. J. (Cheol Joo), Psat, B. M. (Bruce M. Y.), Rao, D. C. (D. C.), Redline, S. (Susan), Reiner, A. P. (Alexander P.), Seo, D. (Daekwan), Seo, J.-S. (Jeong-Sun), Smith, A. V. (Albert, V), Tracy, R. P. (Russell P.), Kathiresan, S. (Sekar), Cupples, L. A. (L. Adrienne), Rotten, J. I. (Jerome, I), Morrison, A. C. (Alanna C.), Rich, S. S. (Stephen S.), Ripatti, S. (Samuli), Wilier, C. (Cristen), Peloso, G. M. (Gina M.), Vasan, R. S. (Ramachandran S.), Abe, N. (Namiko), Albert, C. (Christine), Almasy, L. (Laura), Alonso, A. (Alvaro), Ament, S. (Seth), Anderson, P. (Peter), Applebaum-Bowden, D. (Deborah), Arking, D. (Dan), Ashley-Koch, A. (Allison), Auer, P. (Paul), Avramopoulos, D. (Dimitrios), Barnard, J. (John), Barnes, K. (Kathleen), Barr, R. G. (R. Graham), Barron-Casella, E. (Emily), Beaty, T. (Terri), Becker, D. (Diane), Beer, R. (Rebecca), Begum, F. (Ferdouse), Beitelshees, A. (Amber), Benjamin, E. (Emelia), Bezerra, M. (Marcos), Bielak, L. (Larry), Blackwel, T. (Thomas), Bowler, R. (Russell), Broecke, U. (Ulrich), Bunting, K. (Karen), Burchard, E. (Esteban), Buth, E. (Erin), Cardwel, J. (Jonathan), Carty, C. (Cara), Casaburi, R. (Richard), Casella, J. (James), Chaffin, M. (Mark), Chang, C. (Christy), Chasman, D. (Daniel), Chavan, S. (Sameer), Chen, B.-J. (Bo-Juen), Chen, W.-M. (Wei-Min), Chol, M. (Michael), Choi, S. H. (Seung Hoan), Chuang, L.-M. (Lee-Ming), Chung, M. (Mina), Conomos, M. P. (Matthew P.), Cornell, E. (Elaine), Crapo, J. (James), Curtis, J. (Jeffrey), Custer, B. (Brian), Damcott, C. (Coleen), Darbar, D. (Dawood), Das, S. (Sayantan), David, S. (Sean), Davis, C. (Colleen), Daya, M. (Michelle), de Andrade, M. (Mariza), DeBaunuo, M. (Michael), Duan, Q. (Qing), Devine, R. D. (Ranjan Deka Dawn DeMeo Scott), Duggirala, Q. R. (Qing Ravi), Durda, J. P. (Jon Peter), Dutcher, S. (Susan), Eaton, C. (Charles), Ekunwe, L. (Lynette), Farber, C. (Charles), Farnaml, L. (Leanna), Fingerlin, T. (Tasha), Flickinger, M. (Matthew), Franceschini, N. (Nora), Fu, M. (Mao), Fullerton, S. M. (Stephanie M.), Fulton, L. (Lucinda), Gan, W. (Weiniu), Gao, Y. (Yan), Gass, M. (Margery), Ge, B. (Bruce), Geng, X. P. (Xiaoqi Priscilla), Gignoux, C. (Chris), Gladwin, M. (Mark), Glahn, D. (David), Gogarten, S. (Stephanie), Gong, D.-W. (Da-Wei), Goring, H. (Harald), Gu, C. C. (C. Charles), Guan, Y. (Yue), Guo, X. (Xiuqing), Haessler, J. (Jeff), Hall, M. (Michael), Harris, D. (Daniel), Hawle, N. Y. (Nicola Y.), Heavner, B. (Ben), Heckbert, S. (Susan), Hernandez, R. (Ryan), Herrington, D. (David), Hersh, C. (Craig), Hidalgo, B. (Bertha), Hixson, J. (James), Hokanson, J. (John), Hong, E. (Elliott), Hoth, K. (Karin), Hsiung, C. A. (Chao Agnes), Huston, H. (Haley), Hwu, C. M. (Chii Min), Jackson, R. (Rebecca), Jain, D. (Deepti), Jaquish, C. (Cashell), Jhun, M. A. (Min A.), Johnsen, J. (Jill), Johnson, A. (Andrew), Johnson, C. (Craig), Johnston, R. (Rich), Jones, K. (Kimberly), Kang, H. M. (Hyun Min), Kaufman, L. (Laura), Kell, S. Y. (Shannon Y.), Kessler, M. (Michael), Kinney, G. (Greg), Konkle, B. (Barbara), Kramer, H. (Holly), Krauter, S. (Stephanie), Lange, C. (Christoph), Lange, E. (Ethan), Laurie, C. (Cecelia), LeBoff, M. (Meryl), Lee, S. S. (Seunggeun Shawn), Lee, W.-J. (Wen-Jane), LeFaive, J. (Jonathon), Levine, D. (David), Levy, D. (Dan), Lewis, J. (Joshua), Li, Y. (Yun), Lin, H. (Honghuang), Lin, K. H. (Keng Han), Lin, X. (Xihong), Liu, S. (Simin), Liu, Y. (Yongmei), Lunetta, K. (Kathryn), Luo, J. (James), Mahaney, M. (Michael), Make, B. (Barry), Manichaikul, A. (Ani), Mansonl, J. (JoAnn), Margolin, L. (Lauren), Mathai, S. (Susan), McArdle, P. (Patrick), Mcdonald, M.-L. (Merry-Lynn), McFarland, S. (Sean), McHugh, C. (Caitlin), Mei, H. (Hao), Meyers, D. A. (Deborah A.), Mikulla, J. (Julie), Min, N. (Nancy), Minear, M. (Mollie), Minster, R. L. (Ryan L.), Musani, S. (Solomon), Mwasongwe, S. (Stanford), Mychaleckyj, J. C. (Josyf C.), Nadkarni, G. (Girish), Naik, R. (Rakhi), Naseri, T. (Take), Nekhai, S. (Sergei), Nelson, S. C. (Sarah C.), Nickerson, D. (Deborah), Connell, J. O. (Jeff O.), Connor, T. O. (Tim O.), Ochs-Balcom, H. (Heather), Pankow, J. (James), Papanicolaou, G. (George), Parkerl, M. (Margaret), Parsa, A. (Afshin), Penchey, S. (Sara), Perez, M. (Marco), Peters, U. (Ulrike), Phillips, L. S. (Lawrence S.), Phillips, S. (Sam), Pollin, T. (Toni), Post, W. (Wendy), Becker, J. P. (Julia Powers), Boorgula, M. P. (Meher Preethi), Preuss, M. (Michael), Prokopenko, D. (Dmitry), Qasba, P. (Pankaj), Qiao, D. (Dandi), Rafaels, N. (Nicholas), Raffield, L. (Laura), Rasmussen-Torvik, L. (Laura), Ratan, A. (Aakrosh), Reed, R. (Robert), Reganl, E. (Elizabeth), Reupena, M. S. (Muagututi Sefuiva), Rice, K. (Ken), Roden, D. (Dan), Roselli, C. (Carolina), Ruczinski, I. (Ingo), Russel, P. (Pamela), Ruuska, S. (Sarah), Ryan, K. (Kathleen), Sabino, E. C. (Ester Cerdeira), Sakornsakolpatl, P. (Phuwanat), Salzberg, S. (Steven), Sandow, K. (Kevin), Sankaran, V. G. (Vijay G.), Scheller, C. (Christopher), Schmidt, E. (Ellen), Schwander, K. (Karen), Schwartz, D. (David), Sciurba, F. (Frank), Seidman, C. (Christine), Seidman, J. (Jonathan), Sheehan, V. (Vivien), Shetty, A. (Amol), Shetty, A. (Aniket), Sheu, W. H. (Wayne Hui-Heng), Shoemaker, M. B. (M. Benjamin), Silver, B. (Brian), Silvermanl, E. (Edwin), Smith, J. (Jennifer), Smith, J. (Josh), Smith, N. (Nicholas), Smith, T. (Tanja), Smoller, S. (Sylvia), Snively, B. (Beverly), Soferlm, T. (Tamar), Streeten, E. (Elizabeth), Su, J. L. (Jessica Lasky), Sung, Y. J. (Yun Ju), Sylvia, J. (Jody), Sztalryd, C. (Carole), Taliun, D. (Daniel), Tang, H. (Hua), Taub, M. (Margaret), Taylor, K. D. (Kent D.), Taylor, S. (Simeon), Telen, M. (Marilyn), Thornton, T. A. (Timothy A.), Tinker, L. (Lesley), Tirschwel, D. (David), Tiwari, H. (Hemant), Vaidya, D. (Dhananjay), VandeHaar, P. (Peter), Vrieze, S. (Scott), Walker, T. (Tarik), Wallace, R. (Robert), Waits, A. (Avram), Wan, E. (Emily), Wang, H. (Heming), Watson, K. (Karol), Weir, B. (Bruce), Weiss, S. (Scott), Weng, L.-C. (Lu-Chen), Williams, K. (Kayleen), Williams, L. K. (L. Keoki), Wilson, C. (Carla), Wong, Q. (Quenna), Xu, H. (Huichun), Yang, I. (Ivana), Yang, R. (Rongze), Zaghlou, N. (Norann), Zekavat, M. (Maryam), Zhang, Y. (Yingze), Zhao, S. X. (Snow Xueyan), Zhao, W. (Wei), Zni, D. (Degui), Zhou, X. (Xiang), Zhu, X. (Xiaofeng), Zody, M. (Michael), Zoellner, S. (Sebastian), Daly, M. (Mark), Jacob, H. (Howard), Matakidou, A. (Athena), Runz, H. (Heiko), John, S. (Sally), Plenge, R. (Robert), McCarthy, M. (Mark), Hunkapiller, J. (Julie), Ehm, M. (Meg), Waterworth, D. (Dawn), Fox, C. (Caroline), Malarstig, A. (Anders), Klinger, K. (Kathy), Call, K. (Kathy), Mkel, T. (Tomi), Kaprio, J. (Jaakko), Virolainen, P. (Petri), Pulkki, K. (Kari), Kilpi, T. (Terhi), Perola, M. (Markus), Partanen, J. (Jukka), Pitkranta, A. (Anne), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Savinainen, K. (Kimmo), Kosma, V.-M. (Veli-Matti), Kujala, U. (Urho), Tuovila, O. (Outi), Hendolin, M. (Minna), Pakkanen, R. (Raimo), Waring, J. (Jeff), Riley-Gillis, B. (Bridget), Liu, J. (Jimmy), Biswas, S. (Shameek), Diogo, D. (Dorothee), Marshall, C. (Catherine), Hu, X. (Xinli), Gossel, M. (Matthias), Schleutker, J. (Johanna), Arvas, M. (Mikko), Hinttala, R. (Reetta), Kettunen, J. (Johannes), Laaksonen, R. (Reijo), Mannermaa, A. (Arto), Paloneva, J. (Juha), Soininen, H. (Hilkka), Julkunen, V. (Valtteri), Remes, A. (Anne), Klviinen, R. (Reetta), Hiltunen, M. (Mikko), Peltola, J. (Jukka), Tienari, P. (Pentti), Rinne, J. (Juha), Ziemann, A. (Adam), Waring, J. (Jeffrey), Esmaeeli, S. (Sahar), Smaoui, N. (Nizar), Lehtonen, A. (Anne), Eaton, S. (Susan), Landenper, S. (Sanni), Michon, J. (John), Kerchner, G. (Geoff), Bowers, N. (Natalie), Teng, E. (Edmond), Eicher, J. (John), Mehta, V. (Vinay), Gormle, P. Y. (Padhraig Y.), Linden, K. (Kari), Whelan, C. (Christopher), Xu, F. (Fanli), Pulford, D. (David), Frkkil, M. (Martti), Pikkarainen, S. (Sampsa), Jussila, A. (Airi), Blomster, T. (Timo), Kiviniemi, M. (Mikko), Voutilainen, M. (Markku), Georgantas, B. (Bob), Heap, G. (Graham), Rahimov, F. (Fedik), Usiskin, K. (Keith), Maranville, J. (Joseph), Lu, T. (Tim), Oh, D. (Danny), Kalpala, K. (Kirsi), Miller, M. (Melissa), McCarthy, L. (Linda), Eklund, K. (Kari), Palomki, A. (Antti), Isomki, P. (Pia), Piri, L. (Laura), Kaipiainen-Seppnen, O. (Oili), Lertratanaku, A. (Apinya), Bing, D. C. (David Close Marla Hochfeld Nan), Gordillo, J. E. (Jorge Esparza), Mars, N. (Nina), Laitinen, T. (Tarja), Pelkonen, M. (Margit), Kauppi, P. (Paula), Kankaanranta, H. (Hannu), Harju, T. (Terttu), Greenberg, S. (Steven), Chen, H. (Hubert), Betts, J. (Jo), Ghosh, S. (Soumitra), Salomaa, V. (Veikko), Niiranen, T. (Teemu), Juonala, M. (Markus), Metsrinne, K. (Kaj), Khnen, M. (Mika), Junttila, J. (Juhani), Laakso, M. (Markku), Pihlajamki, J. (Jussi), Sinisalo, J. (Juha), Taskinen, M.-R. (Marja-Riitta), Tuomi, T. (Tiinamaija), Laukkanen, J. (Jari), Challis, B. (Ben), Peterson, A. (Andrew), Chu, A. (Audrey), Parkkinen, J. (Jaakko), Muslin, A. (Anthony), Joensuu, H. (Heikki), Meretoja, T. (Tuomo), Aaltonen, L. (Lauri), Auranen, A. (Annika), Karihtala, P. (Peeter), Kauppila, S. (Saila), Auvinen, P. (Pivi), Elenius, K. (Klaus), Popovic, R. (Relja), Schutzman, J. (Jennifer), Loboda, A. (Andrey), Chhibber, A. (Aparna), Lehtonen, H. (Heli), McDonough, S. (Stefan), Crohns, M. (Marika), Kulkarni, D. (Diptee), Kaarniranta, K. (Kai), Turunen, J. (Joni), Ollila, T. (Terhi), Seitsonen, S. (Sanna), Uusitalo, H. (Hannu), Aaltonen, V. (Vesa), Uusitalo-Jrvinen, H. (Hannele), Luodonp, M. (Marja), Hautala, N. (Nina), Strauss, E. (Erich), Chen, H. (Hao), Podgornaia, A. (Anna), Hoffman, J. (Joshua), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Hannula-Jouppi, K. (Katariina), Salmi, T. (Teea), Peltonen, S. (Sirkku), Koulu, L. (Leena), Harvima, I. (Ilkka), Wu, Y. (Ying), Choy, D. (David), Jalanko, A. (Anu), Kajanne, R. (Risto), Lyhs, U. (Ulrike), Kaunisto, M. (Mari), Davis, J. W. (Justin Wade), Quarless, D. (Danjuma), Petrovski, S. (Slav), Chen, C.-Y. (Chia-Yen), Bronson, P. (Paola), Yang, R. (Robert), Chang, D. (Diana), Bhangale, T. (Tushar), Holzinger, E. (Emily), Wang, X. (Xulong), Chen, X. (Xing), Auro, K. (Kirsi), Wang, C. (Clarence), Xu, E. (Ethan), Auge, F. (Franck), Chatelain, C. (Clement), Kurki, M. (Mitja), Karjalainen, J. (Juha), Havulinna, A. (Aki), Palin, K. (Kimmo), Palta, P. (Priit), Parolo, P. D. (Pietro Della Briotta), Zhou, W. (Wei), Lemmel, S. (Susanna), Rivas, M. (Manuel), Harju, J. (Jarmo), Lehisto, A. (Arto), Ganna, A. (Andrea), Llorens, V. (Vincent), Karlsson, A. (Antti), Kristiansson, K. (Kati), Hyvrinen, K. (Kati), Ritari, J. (Jarmo), Wahlfors, T. (Tiina), Koskinen, M. (Miika), Pylkäs, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Mantere, T. (Tuomo), Kangasniemi, E. (Eeva), Heikkinen, S. (Sami), Laakkonen, E. (Eija), Kononen, J. (Juha), Loukola, A. (Anu), Laiho, P. (Pivi), Sistonen, T. (Tuuli), Kaiharju, E. (Essi), Laukkanen, M. (Markku), Jrvensivu, E. (Elina), Lhteenmki, S. (Sini), Mnnikk, L. (Lotta), Wong, R. (Regis), Mattsson, H. (Hannele), Hiekkalinna, T. (Tero), Jimnez, M. G. (Manuel Gonzlez), Donner, K. (Kati), Prn, K. (KaIle), Nunez-Fontarnau, J. (Javier), Kilpelinen, E. (Elina), Sipi, T. P. (Timo P.), Brein, G. (Georg), Dada, A. (Alexander), Awaisa, G. (Ghazal), Shcherban, A. (Anastasia), Sipil, T. (Tuomas), Laivuori, H. (Hannele), Kiiskinen, T. (Tuomo), Siirtola, H. (Harri), Tabuenca, J. G. (Javier Gracia), Kallio, L. (Lila), Soini, S. (Sirpa), Pitknen, K. (Kimmo), and Kuopio, T. (Teijo)
Subjects: Cardiovascular genetics, Genome-wide association studies
Abstract: Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids.
Published: 2021

5. Climate change in the Baltic Sea:2021 fact sheet

Author: Ahola, M. (Markus), Bergström, L. (Lena), Blomqvist, M. (Mats), Boedeker, D. (Dieter), Börgel, F. (Florian), Carlén, I. (Ida), Carlund, T. (Thomas), Carstensen, J. (Jacob), Aagaard Christensen, J. P. (Jesper Philip), Futter, M. (Martyn), Gaget, E. (Elie), Glibko, O. (Oksana), Gröger, M. (Matthias), Dierschke, V. (Volker), Dieterich, C. (Christian), Frederiksen, M. (Morten), Galatius, A. (Anders), Gustafsson, B. (Bo), Frauen, C. (Claudia), Halkka, A. (Antti), Halling, C. (Christina), Holfort, J. (Jürgen), Huss, M. (Magnus), Hyytiäinen, K. (Kari), Jürgens, K. (Klaus), Jüssi, M. (Mart), Kallasvuo, M. (Meri), Kankainen, M. (Markus), Karlsson, A. M. (Agnes ML), Karlsson, M. (Martin), Kiessling, A. (Anders), Kjellström, E. (Erik), Kontautas, A. (Antanas), Krause-Jensen, D. (Dorte), Kuliński, K. (Karol), Kuningas, S. (Sanna), Käyhkö, J. (Jukka), Laht, J. (Janika), Laine, A. (Ari), Lange, G. (Gesine), Lappalainen, A. (Antti), Laurila, T. (Terhi), Lehtiniemi, M. (Maiju), Lerche, K.-O. (Knut-Olof), Lips, U. (Urmas), Martin, G. (Georg), McCrackin, M. (Michelle), Meier, H. M. (H.E. Markus), Mustamäki, N. (Noora), Müller-Karulis, B. (Bärbel), Naddafi, R. (Rahmat), Niskanen, L. (Lauri), Nyström Sandman, A. (Antonia), Olsson, J. (Jens), Pavón-Jordán, D. (Diego), Pålsson, J. (Jonas), Rantanen, M. (Mika), Razinkovas-Baziukas, A. (Artūras), Rehder, G. (Gregor), Reißmann, J. H. (Jan H.), Reutgård, M. (Martin), Ross, S. (Stuart), Rutgersson, A. (Anna), Saarinen, J. (Jarkko), Saks, L. (Lauri), Savchuk, O. (Oleg), Sofiev, M. (Mikhail), Spich, K. (Katarzyna), Särkkä, J. (Jani), Viitasalo, M. (Markku), J. V. (Jouni Vielma), Virtasalo, J. (Joonas), Wallin, I. (Isa), Weisse, R. (Ralf), Wikner, J. (Johan), Zhang, W. (Wenyan), Zorita, E. (Eduardo), and Östman, Ö. (Örjan)
Abstract: Climate change effects on the Baltic Sea environment are manifold. It is for example expected that water temperature and sea level will rise, and sea ice cover will decrease. This will affect ecosystems and biota; for example, range shifts are expected for a number of marine species, benthic productivity will decrease, and breeding success of ringed seals will be reduced. The impacts will hence affect the overall ecosystem function and also extend to human uses of the sea; trawling will follow the fish towards southern areas, aquaculture will likely face a shift towards species diversification, and the value of most ecosystem services is expected to change — to name a few. This Climate Change Fact Sheet provides the latest scientific knowledge on how climate change is currently affecting the Baltic Sea and how it is expected to develop in the foreseeable future. It is aimed at guiding policy makers to take climate change into account, but also to the general public. Updated Baltic Sea Climate Change Fact Sheets are expected to be published approximately every seven years.
Published: 2021

6. Natural background radiation at Lab 2 of Callio Lab, Pyhäsalmi mine in Finland

Author: Polaczek-Grelik, K. (Kinga), Walencik-Łata, A. (Agata), Szkliniarz, K. (Katarzyna), Kisiel, J. (Jan), Jȩdrzejczak, K. (Karol), Szabelski, J. (Jacek), Kasztelan, M. (Marcin), Orzechowski, J. (Jerzy), Tokarski, P. (Przemysław), Marszał, W. (Włodzimierz), Przybylak, M. (Marika), Joutsenvaara, J. (Jari), Puputti, H. J. (Hannah J.), Holma, M. (Marko), and Enqvist, T. (Timo)
Subjects: Radioactivity content, Environmental radioactivity, Neutron flux, Uranium concentration, Gamma spectrometry, Deep underground laboratory
Abstract: In operating mines, as well as in deep locations for planned scientific activities, it is essential to recognize the natural background radiation from the point of view of both occupational hazard and experimental background. Callio Lab, located in the Pyhäsalmi Mine, Finland, is one of the underground laboratories participating in the Baltic Sea Underground Innovation Network (BSUIN). The characterization of the natural background radiation was done at the Lab 2, which is the deepest located in Callio Lab. It involved in-situ gamma spectrometry, thermal neutron flux measurements, radon concentration determination, and α / β laboratory spectrometry of water and rock samples. At a depth of 1436 m (~4000 m w.e.) within the felsic volcanic bedrock occurs a volcanogenic massive sulphide deposit, wherein a thermal neutron flux of (1.73 ± 0.10) × 10−5 cm−2s−1, a gamma-ray flux of 12.7 ± 1.5 cm−2s−1, a gamma-ray dose of 0.158 ± 0.029 μ Sv/h and a radon concentration of 213.3 Bq/m³ ± 11% were determined.
Published: 2021

7. (Re)configuraciones narrativas en la literatura contemporánea en Perú y Argentina frente a la violencia contra las mujeres

Author: Espina Barrio, Ángel-Baldomero, Derwich, Karol, Sawicka, Monica, Espina Barrio, Á ( Ángel-Baldomero ), Derwich, K ( Karol ), Sawicka, M ( Monica ), Holzer, Virginia; https://orcid.org/0000-0002-0284-7841, Espina Barrio, Ángel-Baldomero, Derwich, Karol, Sawicka, Monica, Espina Barrio, Á ( Ángel-Baldomero ), Derwich, K ( Karol ), Sawicka, M ( Monica ), and Holzer, Virginia; https://orcid.org/0000-0002-0284-7841
Abstract: El presente trabajo tiene por objeto analizar representaciones de la violencia contra las mujeres en la literatura contemporánea en Perú y Argentina. En particular, se abordan cuatro novelas pertenecientes a escritoras latinoamericanas, publicadas en los últimos diez años. Estas son: La sangre de la aurora (2013) de Claudia Salazar Jiménez, La muerte tenía nuestros dedos (2015) de Jennifer Thorndike, El infierno prometido (2010) de Elsa Drucaroff, y La inauguración (2009) de María Inés Krimer. A tra-vés de una mirada interdisciplinaria que incluye nociones de la antropología, como “pedagogía de la crueldad” (Rita Segato, 2016), y de los estudios culturales del Sur Global, como “basurización” (Daniel Castillo Durante, 1999) y “basurización simbólica” (Rocío Silva Santisteban, 2008), buscaré responder a las interrogantes aquí planteadas. ¿Qué tipo de configuraciones narrativas se construyen para hablar de la violencia contra las mujeres en estas prácticas literarias? Y ¿cómo entender la relevancia de estos textos a la hora de visibilizar un tema tan urgente?
Published: 2021

8. Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

Author: Mol, M.O., Nijmeijer, S.W.R. (Sebastiaan W.R.), Rooij, J.G.J. (Jeroen) van, Van Spaendonk, R.M.L. (Resie M. L.), Pijnenburg, Y.A.L. (Yolande), Lee, S.J. (Sven) van der, Thornton, A.S. (Andrew), Donker Kaat, L. (Laura), Rozemuller, A.J.M. (Annemieke), Janse Van Mantgem, M.R. (Mark R.), Rheenen, W. (Wouter) van, Estrada Gil, K. (Karol), Veldink, J.H. (Jan), Hennekam, R.C.M. (Raoul), Vernooij, M.W. (Meike), Swieten, J.C. (John) van, Cohn-Hokke, P.E. (P.), Seelaar, H. (Harro), Dopper, E.G.P. (Elise), Mol, M.O., Nijmeijer, S.W.R. (Sebastiaan W.R.), Rooij, J.G.J. (Jeroen) van, Van Spaendonk, R.M.L. (Resie M. L.), Pijnenburg, Y.A.L. (Yolande), Lee, S.J. (Sven) van der, Thornton, A.S. (Andrew), Donker Kaat, L. (Laura), Rozemuller, A.J.M. (Annemieke), Janse Van Mantgem, M.R. (Mark R.), Rheenen, W. (Wouter) van, Estrada Gil, K. (Karol), Veldink, J.H. (Jan), Hennekam, R.C.M. (Raoul), Vernooij, M.W. (Meike), Swieten, J.C. (John) van, Cohn-Hokke, P.E. (P.), Seelaar, H. (Harro), and Dopper, E.G.P. (Elise)
Abstract: Introduction Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are closely related disorders, linked pathologically and ge
Published: 2020
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9. Targeted chromatin conformation analysis identifies novel distal neural enhancers of ZEB2 in pluripotent stem cell differentiation

Author: Birkhoff, J.C. (Judith C.), Brouwer, R.W.W. (Rutger), Kolovos, P. (Petros), Korporaal, A.L. (Anne L.), Bermejo-Santos, A. (Ana), Boltsis, I. (Ilias), Nowosad, K. (Karol), van den hout, M.C.G.N. (Mirjam), Grosveld, F.G. (Frank), IJcken, W.F.J. (Wilfred) van, Huylebroeck, D. (Danny), Conidi, A. (Andrea), Birkhoff, J.C. (Judith C.), Brouwer, R.W.W. (Rutger), Kolovos, P. (Petros), Korporaal, A.L. (Anne L.), Bermejo-Santos, A. (Ana), Boltsis, I. (Ilias), Nowosad, K. (Karol), van den hout, M.C.G.N. (Mirjam), Grosveld, F.G. (Frank), IJcken, W.F.J. (Wilfred) van, Huylebroeck, D. (Danny), and Conidi, A. (Andrea)
Abstract: The transcription factor zinc finger E-box binding protein 2 (ZEB2) controls embryonic and adult cell fate decisions and cellular maturation in many stem/progenitor cell types. Defects in these processes in specific cell types underlie several aspects of Mowat-Wilson syndrome (MOWS), which is caused by ZEB2 haplo-insufficiency. Human ZEB2, like mouse Zeb2, is located on chromosome 2 downstream of a ±3.5 Mb-long gene-desert, lacking any protein-coding gene. Using temporal targeted chromatin capture (T2C), we show major chromatin structural changes based on mapping in-cis proximities between the ZEB2 promoter and this gene desert during neural differentiation of human-induced pluripotent stem cells, including at early neuroprogenitor cell (NPC)/rosette state, where ZEB2 mRNA levels increase significantly. Combining T2C with histone-3 acetylation mapping, we identified three novel candidate enhancers about 500 kb upstream of the ZEB2 transcription start site. Functional luciferase-based assays in heterologous cells and NPCs reveal co-operation between these three enhancers. This study is the first to document in-cis Regulatory Elements located in ZEB2's gene desert. The results further show the usability of T2C for future studies of ZEB2 REs in differentiation and maturation of multiple cell types and the molecular characterization of newly identified MOWS patients that lack mutations in ZEB2 protein-coding exons.
Published: 2020
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10. Space robot motion planning in the presence of nonconserved linear and angular momenta

Author: Basmadji, F.L. (Fatina Liliana), Seweryn, K. (Karol), Sasiadek, J. (Jurek), Basmadji, F.L. (Fatina Liliana), Seweryn, K. (Karol), and Sasiadek, J. (Jurek)
Abstract: On-orbit servicing, active debris removal or assembling large structures on orbit are only some of the tasks that could be accomplished by space robots. In all these cases, a contact between a space robot and the satellite being serviced, deorbited, or assembled will occur. This contact results in a contact force exerted on the space robot, and therefore momenta of the space robot system are no longer conserved. Most of the papers that are concerned with motion planning problems of a space robot manipulator either consider that no external forces or moments are acting on the space robot system or use additional controllers when the space robot is subjected to external forces and moments. Such a controller minimizes end-effector position and orientation errors caused by the changes in system momenta due to external forces and moments acting on this system. The novelty of this work is that it proposes a new method for planning the motion of dual-arm space robot manipulators when linear and angular momenta of the space robot system are not conserved due to external forces and moments acting on the space robot base or/and manipulators’ end-effectors. In the proposed method the changes in system momenta are considered, but no additional controllers are needed. In this paper, we derive the motion planning equations for dual-arm space robot manipulators, where external forces and moments are acting on both satellite and manipulator end-effectors. The proposed method has been verified by numerical simulations, and the results are presented and discussed.
Published: 2020
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11. Symphony in D major : them. index 2 : [second half of eighteenth century]

Author: Pietrowski, K. (Karol), composer. and Berwaldt, Jacek, editor.
Published: 1982

12. A Tale of Two Set Theories

Author: Brown, Chad E. and P��k, Karol
Subjects: FOS: Computer and information sciences, Mathematics::Logic, Computer Science::Logic in Computer Science, Computer Science::Mathematical Software, Computer Science::Digital Libraries, Logic in Computer Science (cs.LO)
Abstract: We describe the relationship between two versions of Tarski-Grothendieck set theory: the first-order set theory of Mizar and the higher-order set theory of Egal. We show how certain higher-order terms and propositions in Egal have equivalent first-order presentations. We then prove Tarski's Axiom A (an axiom in Mizar) in Egal and construct a Grothendieck Universe operator (a primitive with axioms in Egal) in Mizar.
Published: 2019
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13. 2015 Canadian Surgery Forum02 The usefulness and costs of routine contrast studies after laparoscopic sleeve gastrectomy for detecting staple line leaks03 The association of change in body mass index and health-related quality of life in severely obese patients04 Inpatient cost of bariatric surgery within a regionalized centre of excellence system05 Regional variations in the public delivery of bariatric surgery: an evaluation of the centre of excellence model06 The effect of distance on short-term outcomes after bariatric surgery07 The role of preoperative upper endoscopy in bariatric surgery: a systematic review08 Outcomes of a dedicated bariatric revision surgery clinic10 Quality of follow-up: a systematic review of the research in bariatric surgery14 Bariatric surgery improves weight loss and cardiovascular disease compared with medical management alone: an Alberta multi-institutional early outcomes study16 Diabetic control after laparoscopic gastric bypass and sleeve gastrectomy: a short-term prospective study17 Knowledge and perception of bariatric surgery among primary care physicians: a survey of family doctors in Ontario19 Is early discharge of patients post laparoscopic sleeve gastrectomy safe?22 A comparison of outcomes between bariatric centres of excellence within Ontario02 Closure methods for laparotomy incisions: a cochrane review03 Closing the audit cycle: Are we consenting correctly now?05 Regional variation in the use of surgery in Ontario06 Quitting general surgery residency: attitudes and factors in Canada07 Nipple-sparing mastectomy: utility of intraoperative frozen section analysis of retroareolar tissue08 Withdrawn09 Reliable assessment of operative performance10 Video assessment as a method of assessing surgical competence: the difference in video-rating skills after 4 years of residency11 Burnout among academic surgeons13 Increased health services use by severely obese patients undergoing emergency surgery: a retrospective cohort study14 Novel models for advanced laparoscopic suturing: taking it to the next level16 Pectoral nerve block in breast and axillary surgery17 Predictors for positive resection margins in gastric adenocarcinoma: a population-based analysis18 Predictors of malignancy in thyroid nodules19 Safety and efficacy of POEM for treatment of achalasia: a systematic review of the literature20 Informed consent for surgery21 Meconium ileus: 20 years of experience22 Paraesophageal hernia repair in the elderly: outcomes in a 10-year retrospective study23 The changing face of breast cancer: younger age and aggressive disease in Filipino Canadians24 A systematic review of intraoperative blood loss estimation methods for major noncardiac surgery: a 50-year perspective25 The AVATAR trial: applying vacuum to accomplish reduced wound infections in laparoscopic pediatric surgery27 Indications for use of damage control surgery in civilian trauma patients: a content analysis and expert appropriateness rating study28 Indications for use of thoracic, abdominal, pelvic, and vascular damage control interventions in trauma patients: a content analysis and expert appropriateness rating study29 The impact of health care contact and invasive procedures on Staphylococcus aureus bacteremia: a 5-year retrospective cohort study30 Acute care surgery — positive impact on gallstone pancreatitis31 Safety and efficacy of a step-up approach to management of severe, refractory Clostridium difficile infection32 Clinical and operative outcome of patients with acute cholecystitis who are treated initially with image-guided cholecystostomy34 Assessment of preoperative carbohydrate loading and blood glucose concentration in patients with diabetes35 Impact of pre-emptive lidocaine infiltration at trocar sites (PLITS) and intraoperative ketorolac administration on postoperative pain and narcotics consumption after endocholecystectomy: a randomized-controlled trial36 Expert intraoperative judgment and decision-making: defining the cognitive competencies for safe laparoscopic cholecystectomy37 Teaching clinical anatomy to postgraduate surgical trainees38 Investigating the role of TNFR1 in gastric adenocarcinoma peritoneal metastasis39 Selective outcome reporting and publication biases in surgical randomized controlled trials40 Definitive percutaneous management of symptomatic cholelithiasis41 Peer-based coaching: an innovative method to teach faculty an advanced laparoscopic technique42 Improving teaching and learning in the operating room: Does the surgical procedure feedback rubric support learning?43 Withdrawn44 Mislabelling study designs as case–control in surgical literature45 Measured resting energy expenditure in patients with open abdomens: preliminary data of a prospective pilot study46 Open abdomen management and primary abdominal closure in a surgical abdominal sepsis cohort: a retrospective review47 The effect of early mobilization protocols on postoperative outcomes following abdominal and thoracic surgery: a systematic review49 Program directors and trainees attitudes toward the introduction of multi-source feedback as part of surgical residents’ formative assessment process at the University of Calgary: a qualitative study50 Outcomes associated with alternate blunt cerebrovascular injury detection strategies in major trauma patients: a systematic review and meta-analysis51 Assessing the effect of preoperative nutrition on the surgical recovery of elderly patients53 Why is the percentage of medical students selecting a general surgery career different between Canadian medical schools?54 Colorectal cancer patient perspectives of preoperative repeat endoscopy: a qualitative study55 Staphylococcus aureus bacteremia in a pediatric population: a retrospective study in a tertiary-care referral centre56 The impact of postoperative complications on the recovery of elderly surgical patients57 Withdrawn58 The economics of recovery after pancreatic surgery: detailed cost minimization analysis of a postoperative clinical pathway for patients undergoing pancreaticoduodenectomy59 2015 CJS Editor’s Choice Award Recipient: Achalasia-specific quality of life after pneumatic dilation and laparoscopic Heller myotomy with partial fundoplication: a randomized clinical trial60 NSAID use is associated with an increased risk of anastomotic leak after colorectal surgery: results of a frequentist and Bayesian meta-analysis61 Miracles for babies with abnormal lungs: the story of miR-10a and lung development62 Investigating hospital readmissions and unplanned ED visits following general surgical procedures at a tertiary care centre63 Remote FLS testing: ready for prime time64 Contrast blush (CB) significance on computed tomography (CT) and correlation with noninterventional management (NIM) failure for blunt splenic injury (BSI) in children65 Bridging the gap on the surgical ward: enhancing resident–nurse communication through a CUSP pilot project66 A prospective interim analysis of microbiological gene expression profile of Staphyloccocus aureus bacteremia and its clinical implications67 Outcomes of selective nonoperative management of civilian abdominal gunshot wounds: a systematic review and meta-analysis68 Does rater training improve the reliability of surgical skill assessments? A randomized control trial69 Parallel or divergent? The evolution of emergency general surgery service delivery at 3 Canadian teaching hospitals70 Surgeon satisfaction in the era of dedicated emergency general surgery services: a multicentre study74 Withdrawn76 Timing of cholecystectomy after gallstone pancreatitis: Are we meeting the standards?77 Management of traumatic occult hemothorax, a survey of trauma providers in Canada78 Withdrawn01 Extent of lymph node involvement after esophagectomy with extended lymphadenectomy for esophageal adenocarcinoma predicts recurrence: a large North American cohort study02 A randomized comparison of electronic versus handwritten daily notes in thoracic surgery03 Is tissue still the issue? Lobectomy for suspected lung nodules without preoperative or intraoperative confirmation of malignancy04 Incidence of pulmonary embolism and deep vein thrombosis following major lung resection: a prospective multicentre incidence study05 Venous thromboembolism (VTE) prophylaxis in thoracic surgery: a Canadian national delphi consensus survey06 Preoperative chemoradiation therapy v. chemotherapy in patients undergoing modified en bloc esophagectomy for locally advanced esohageal adenocarcinoma: Does radiation add value?07 Comparative outcomes following tracheal resection for benign versus malignant conditions08 Combined clinical staging for resectable lung cancer: clinicopathological correlations and the role of brain MRI10 A retrospective cohort evaluation of non–small cell lung cancer recurrence detection11 Health-related quality of life measure distinguishes between low and high T stages in esophageal cancer12 Transition from multiport to single-port anatomic lung resection is feasible13 Survival rates in patients with N3 esophageal adenocarcinoma treated with neoadjuvant chemotherapy and esophagectomy with en-bloc lymphadenectomy14 Impact of a dedicated outpatient clinic on the management of malignant pleural effusions16 Has the quality of reporting of randomized controlled trials in thoracic surgery improved?17 Clinical features distinguishing malignant from benign esophageal diagnoses in patients referred to an esophageal diagnostic assessment program18 Concordance with invasive mediastinal staging guidelines19 Current lung-protective ventilation strategies may not be protective during one-lung ventilation surgery20 National practice variation in pneumonectomy perioperative care — results from a survey of the Canadian Association of Thoracic Surgeons21 Outcomes after multimodal treatment of esophagogastric neuroendocrine carcinoma: Is there a role for resection?22 Clinical results of treatment for isolated axillary and plantar hyperhidrosis: a single centre experience23 The role of pneumonectomy after neoadjuvant chemotherapy for N2 non–small cell lung cancer24 Time delays in the management of non–small cell lung cancer: a comparison between high-volume designated and low-volume community hospitals25 Regionalization and outcomes of lung cancer surgery in Ontario, Canada26 Robotic pulmonary resection for lung cancer: the first Canadian series01 The effect of early postoperative nonsteroidal anti-inflammatory drugs on pancreatic fistula following pancreaticoduodenectomy02 Laparoscopic ultrasound still has a role in the staging of pancreatic cancer: a systematic review of the literature03 Impact of portal vein embolization on morbidity and mortality of major liver resection in patients with colorectal metastases: experience of a small single tertiary care centre04 A decision model and cost analysis of intraoperative cell salvage during hepatic resection05 The impact of portal pedicle clamping on survival from colorectal liver metastases in the contemporary era of liver resection: a matched cohort study06 Clinical and pathological features of intraductal papillary neoplasms of the biliary tract and gallbladder07 International practice patterns among ALPPS surgeons: Do we need a consensus?08 Omental flaps to protect pancreaticojejunostomy in pancreatoduodenectomy11 Preoperative diagnostic angiogram and endovascular aortic stent placement for appleby resection candidates: a novel surgical technique in the management of locally advanced pancreatic cancer12 Recurrence following initial hepatectomy for colorectal liver metastases: a multi-institutional analysis of patterns, prognostic factors and impact on survival13 The influence of the multidisciplinary cancer conference era on the management of colorectal liver metastases14 Monosegment ALPPS hepatectomy: extending resectability by rapid hypertrophy15 How does simultaneous resection of colorectal liver metastases impact chemotherapy administration?16 Preoperative liver volumetry for surgical planning: a systematic review and evaluation of current modalities17 Surgical planning of hepatic metastasectomy using radiologist performed intraoperative ultrasound21 Surgical resection and perioperative chemotherapy for colorectal cancer liver metastases: a population-based study22 Management and outcome of colorectal cancer (CRC) liver metastases in the elderly: a population-based study23 Outcomes following repeat hepatic resection for recurrent metastatic colorectal cancer: a population-based study24 A clinical pathway after pancreaticoduodenectomy standardizes postoperative care and may decrease postoperative complications25 Significance of regional lymph node involvement in patients undergoing liver resection and lymphadenectomy for colorectal cancer metastases26 NSAID use and risk of postoperative pancreatic fistulas following pancreaticoduodenectomy: a retrospective cohort study27 Minimally invasive HPB surgery in Canada: What are we doing and do we want to do more?28 2015 CJS Editor’s Choice Award Recipient: Predictors of actual survival in resected pancreatic adenocarcinoma: a population-level analysis29 Predictors of receipt of adjuvant therapy following pancreatic adenocarcinoma resection: a population-based analysis30 Effect of surgical wait time on oncological outcomes in periampullary cancer31 Does surgical assist expertise affect resectability in periampullary malignancies?32 The impact of tranexamic acid on fibrinolytic activity during major liver resection33 Colorectal cancer with synchronous hepatic metastases: a national survey of opinions on treatment sequencing and multidisciplinary cooperation34 Outcomes associated with a matched series of patients undergoing sequential resections of colorectal cancer and hepatic metastases compared with synchronous surgical therapy of the primary and hepatic metastases35 The impact of anesthetic inhalational agent on short-term outcomes after liver resection38 The impact of perioperative blood transfusions on posthepatectomy short-term outcomes: an analysis from the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP)39 Associations between pancreatic cancer quality indicators and outcomes in Nova Scotia40 Developing a national quality agenda in hepato-pancreato-biliary surgery: key priority areas for study02 Withdrawn03 Histological features and clinical implications of polypropylene degradation04 A rare case of primary hernia of the perineum05 Migration of polypropylene mesh in the development of late complications06 Laparoscopic hernia repair — Has this procedure run its course?07 Mesh materials used for hernia repair: Why do they shrink?08 The role of pure tissue repairs in a tailored concept for inguinal hernia repair09 Recurrent inguinal hernias a persistent problem in hernia surgery: analysis of 14 640 recurrent cases in the German hernia database, Herniamed10 Open circular intra-abdominal ventral herniorrhaphy: a new technique in ventral hernia repair01 Misrepresentation or 'spin' is common in robotic colorectal surgical studies02 Postoperative pelvic sepsis rates following complete pathologic response to neoadjuvant therapy in rectal cancer03 Understanding the complexities of shared decision-making in cancer: a qualitative study of the perspectives of patients undergoing colorectal surgery04 Impact of hospital volume on quality indices for rectal cancer surgery in British Columbia, Canada07 The effect of laparoscopy on inpatient cost after elective colectomy for colon cancer08 Predictors of variation in neighbourhood access to laparoscopic colectomy for colon cancer09 Predictors of 30-day readmission after elective colectomy for colon cancer10 Neutrophil-to-lymphocyte ratio predicts major perioperative complications in patients with colorectal cancer12 Sessile serrated adenoma (SSA) detection-predictive factors13 Diverticular abscess managed with long-term definitive nonoperative intent is safe14 Long-term outcomes of conservative management following successful nonoperative treatment of acute diverticulitis with abscess: a systematic review15 Incidence of ischemic colitis after abdominal aortic aneurysm repair: results from the national surgical quality improvement program database16 Sigmoid colectomy for acute diverticulitis in immunosuppressed v. immunocompetent patients: outcomes from the ACS-NSQIP database17 A cross-sectional survey of health and quality of life of patients awaiting colorectal surgery in Canada19 Self-expanding metal stents versus emergent surgery in acute malignant large bowel obstruction20 Combined laparoscopic and TAMIS LAR in a morbidly obese patient after open right hepatectomy21 Safety and feasibility of laparoscopic rectal cancer resection in morbidly obese patients22 Factors associated with morbidity following sacral neurostimulation for fecal incontinence: beware of the high risk groups23 Hyperglycemia increases surgical site infections following colorectal resections for malignancy in a standardized patient cohort24 Implementing an enhanced recovery program after colorectal surgery in elderly patients: Is it feasible?25 From laparoscopic-assisted to total laparoscopic right colectomy with intracorporeal anastomosis: Is the shift in technique justified?26 Surgical site infection rates following implementation of a 'colorectal closure bundle' in elective colorectal surgeries27 Quality of life and anorectal function of rectal cancer patients in long-term recovery28 Combined laparoscopic/transanal endoscopic microsurgery approach to radical resection for rectal tumours29 Transanal endoscopic microsurgery resection of rectal neuroendocrine tumours: a single centre Canadian experience30 Abdominoperineal reconstruction with a myocutaneous flap32 Comparison of robotic and laparoscopic colorectal surgery with respect to 30-day perioperative morbidity33 Definitive management of fistula-in-ano using draining setons35 Oncologic outcomes following complete pathologic response to neoadjuvant therapy in rectal cancer36 Laparoscopic total mesorectal excision in obese patients with rectal cancer: What is the oncological impact?38 Improving the enhanced recovery programs in laparoscopic colectomy: liposomal bupivacaine may not be the answer39 Fistulae related to colonic diverticular disease: a single institution experience41 Laparoscopic colectomy for malignancy provides similar pathologic outcomes and improved survival outcomes compared with open approaches42 MRI utilization and completeness of reporting in rectal cancer: a population-based study43 Supporting quality assurance initiatives for rectal cancer: Is the CAP protocol enough?44 Accuracy and predictive ability of preoperative MRI for rectal adenocarcinoma: room for improvement47 A population-based study of colorectal cancer in patients ≤ 40: Does the extent of resection affect outcomes?48 Transanal minimally invasive surgery (TAMIS) for rectal neoplasms01 The impact of blood transfusion on perioperative outcomes following resection of gastric cancer: an analysis of the ACS-NSQIP02 Association of wait time to surgical management with overall survival in Ontarians with melanoma04 General surgeons’ attitudes toward breast reconstruction in the province of Quebec06 Neoadjuvant chemotherapy for breast cancer: Is practice changing? A population-based review of current surgical trends07 Robotic versus laparoscopic versus open gastrectomy for gastric adenocarcinoma15 Influence of preoperative MRI on the surgical management of breast cancer patients17 Adverse events related to lymph node dissection for cutaneous melanoma: a systematic review and meta-analysis19 Regional variations in survival, case volume and intraoperative margin assessment in resected gastric cancer20 Comparison of clinical and economic outcomes between robotic, laparoscopic and open rectal cancer surgery: early experience at a tertiary care centre21 Outcomes and clinicopathologic features of patients with Angiosarcoma of the breast23 Postmastectomy radiation: Should subtype factor in to the decision?24 Omission of axillary staging in elderly patients with early stage breast cancer impacts regional control but not survival: a systematic review and meta-analysis25 Objective pathological assessment of CRCLM by MALDI26 Identification of predictive tumour markers in breast cancer tissue — a pilot study research plan27 Reframing women’s risk: counselling on contralateral prophylactic mastectomy in non–high risk women with early breast cancer28 Withdrawn30 Comparison of different methods of immediate breast reconstructions for breast cancer patients: Is 'single stage' really better?32 Is lymph node ratio a more accurate prognostic factor in stage III colon cancer than standard nodal staging?33 Costs associated with reoperation in the setting of attempted breast-conserving surgery: a decision analysis34 Polo-like kinase 4 (Plk4) activates Cdc42, stimulates cell invasion and enhances cancer progression in vivo35 Negative predictive value of preoperative abdominal CT in determining gastric cancer resectability on a population level36 2015 CJS Editor’s Choice Award Recipient: (18)F-fluoroazomycin arabinoside positron emission tomography (FAZA-PET) imaging predicts response to chemoradiation and evofosfamide (TH-302) in a preclinical xenograft model of rectal cancer37 Impact of a regional guideline on the surgical treatment of the axilla in patients with breast cancer: a population-based study39 Recent trends in port-site metastasis following laparoscopic resection of gallbladder cancer: a systematic review40 Real-time electromagnetic navigation for breast tumour resection: pilot study on palpable tumours41 Neoadjuvant imatinib for primary gastrointestinal stromal tumour (GIST): mutational status and timing of resection42 Adherence to osteoporosis screening guidelines in seniors with breast cancer treated with anti-estrogen therapy: a population-based study43 Automated robot interventions for enhanced clinical outcomes in breast biopsy44 Preoperative pregabalin or gabapentin for postoperative acute and chronic pain among patients undergoing breast cancer surgery: a systematic review and meta-analysis of randomized controlled trials46 Uptake and impact of synoptic reporting on breast cancer operative reports in a community care setting47 Withdrawn

Author: J. Eng, A.S. Rai, M. Anvari, D. Henault, D.A. Bischof, G. Gauvin, D. Berger-Richardson, M. Tsao, A. Haller, D.J. Kagedan, K. Kazazian, C.R. Baliski, A.J. MacNeill, Y. Zhang, A.M. Covelli, A.E. Schellenberg, B. Alabdulkarim, S. Liang, A.S. Scheer, M.K. Gervais, K.M. Ramji, T.D. Hamilton, H.H. Alabbas, A. Parsyan, E. Kakiashvili, P. Graham, E. Karam, A.B. Crawford, M. Elmi, U. Hameed, R. Daigle, C.A. MacPherson, D. Mihalicz, S.A. Chadi, A.S. Jastaniah, C. Peeples, F. Letarte, O. Daodu, A.E. Feinberg, A-M. Dufresne, C. Jonker, C.J. Brown, X. Wang, A. Ghuman, C. Antczak, A. Brind’Amour, C. Morin, I.L. Browne, A. Karimuddin, A. Al-Khamis, M. Abou Khalil, A. Kugler, R. Garfinkle, J.M. Josse, A.G. Doumouras, R.J. McColl, D.H. Hirpara, S.V. Patel, S. Yeretsian, R. Lorenz, A. Koch, R. Guidoin, J.A. Morrison, V. Iakovlev, R. Krouchev, V.V. Iakovlev, A.C. Wei, S. Hurton, J. Hallet, R. Habashi, C. Howard, T.W. Clements, P.J. Karanicolas, M. Meschino, E. Lau, R. Jrearz, M.S. Rashid, S. Nanji, S. Tung, L. O’Malley, K.M. Eltawil, K. Pineda-Solis, M.E. Tun-Abraham, N. Trabulsi, V.K. Kapoor, S. Buac, S. Bennett, M.E. Tsang, M. Lemke, P. Cyr, J. Levy, R. Behman, W.C. Hanna, A. Bendzsak, P. Dibajnia, J. Spicer, L. Donahoe, S. Gowing, B. Kidane, D. Cornejo-Palma, A.M. Bendzsak, C.K. Wen, N. Dharampal, R. El-Safty, J. Cools-Lartigue, D. French, I.C. Yeung, J. Vernon, J. Agzarian, S. Kaaki, S. Najmeh, R. Rae, A. Banmann, S. Khorasani, B. Anderson, R.L. Maniar, A.N. Al-Rawahi, D.L. Pepe, S.Y.S. Yeh, A. Bougie, A. Okrainec, R.P. Musselman, R. Visser, L. Sandhu, C.C. Chrystoja, M. Tahiri, R.V. Anantha, W.J. Choi, J. Hollett, T. Sikder, M. Lipson, A. Reso, T. Castelino, M.S. Bleszynski, M.E. Hassan, S. Knowles, A. Toprak, V.N. Palter, S. Sun, P. Glen, M. Alzahrani, M. Ernjakovic, A. Madani, M. Qiabi, M. Laffin, I. Molavi, P. Murphy, D.J. Roberts, A. Tran, K. Briggs, N. Ahmadi, D. Kinnear, M. Hanson, O.M. Crespin, B. Catton, Y. Watanabe, S. Küpper, A. Nassar, N. Gawad, E. Bilgic, S. Lyew, D.N. Ginther, M. Mak, F. Saleh, K. Karol, M. Auspitz, S. Elkassem, N.J. Switzer, C. Fulton, E. Lester, P. Leung, D. Terterov, C. Smith, D. Pace, L. Twells, R. Murphy, K. Lester, D. Gregory, D. Boone, R. Padwal, F. Ye, D. Birch, S. Karmali, A.M. Sharma, S. Klarenbach, J.-E. Tarride, D. Hong, S. Gmora, M. Gostimir, F. Haggar, J.-D. Yelle, J. Mamazza, A. Neville, C.E. Sheppard, D.W. Birch, C.J. de Gara, S. Merani, null Skubleny, J.-S. Pelletier, R.S. Gill, R. Kanji, X. Shi, C. de Gara, S.E. Jelinski, N. McGuire, R.S. Padwal, S. Crawford, R. Lewancuzk, M.C. Cleghorn, A. Azin, S. Sockalingam, F.A. Quereshy, T.D. Jackson, R. Talboys, S. Garg, J. Porter, R. Saskin, J. Rangrej, D.R. Urbach, P. Hayes, A. Ayoub, M. Musgrave, H. Faragalla, R. George, K.M. McKendy, A. Munshi, G.M. Fried, L.S. Feldman, M.C. Vassiliou, G. Martel, I. Raiche, F.K. Balaa, S. Reid, K. Kahnamoui, M. McConnell, C.J. Karvellas, R.G. Khadaroo, S. Widder, G. Enani, N.L. Hong, D. Kagedan, J.C. Correa, A. El-Sedfy, M. Dixon, A. Mahar, C. Roswell, L. Helyer, J. Vasilevska-Ristovska, C. Law, D. Cortinovis, B. Zagorski, N. Coburn, F. Christian, G. Caspar-Bell, A. Parmar, L.W.C. Liu, E. Shlomovitz, D.M. Pitt, P. Prasil, J. Simpson, J. Heuser, D. Fergusson, K. Milbrandt, S. Lum Min, N. Wiseman, B.J. Hancock, M. Morris, R. Keijzer, N. Bobrovitz, D.A. Zygun, C.G. Ball, A.W. Kirkpatrick, P.D. Faris, K. Brohi, S. D’Amours, T.C. Fabian, K. Inaba, A.K. Leppäniemi, E.E. Moore, P.H. Navsaria, A.J. Nicol, N. Parry, H.T. Stelfox, D. Pepe, R. Anantha, F. Priestap, J. McCormick, T. Mele, J. Koichopolos, D. Paskar, K. Leslie, K. Lung, G. McCreery, M. Ott, C. Vinden, R. Hernandez-Alejandro, D. Gray, P. Quigley, R. Brisebois, P. Senior, H. Wang, A. Paré, A. Dudemaine, S.K. Mayer, R. Aggarwal, J.S. Barkun, T. Wood, M.T. Hincke, C. Seabrook, C. Ramnanan, F. Balaa, R. Kayano, B. Giannias, F. Bourdeau, L. Ferri, R. Wu, H. Moloo, R. Breau, W. Harris, A. Kavanagh, A. Jokhio, K. Beyfuss, A. Ryzynski, S.A. Ashamalla, U. Luhanga, S. Jones, A. Winthrop, L. McEwen, V. DeMelo, H. Yan, S. Iqbal, N. Fong, J. Grushka, D. Deckelbaum, L. St. Laurent, E. Eckert, T. Razek, K. Khwaja, T. Chan, A.K. Buczkowski, J.F. Fiore, P. Niculiseanu, B. Augustin, K. Dalrymple, A. Harvey, E. Jost, G. Maimon, D. Teasdale, N. Sourial, S. Demyttenaere, S. Fraser, S. Bergman, T. Scott, A. Bateman, J. Delport, S.M.M. Haeryfar, J.K. McCormick, J. Guralnick, S.A. Fraser, A. Ramjaun, A. Tremblay-St. Germain, K.S. Devitt, S.P. Cleary, G.E. Darling, N.E. Diamant, P.P. Kortan, G.A. Tomlinson, W. Deitel, A. Laporte, J. Takata, F. Angarita, G. Tomlinson, R.S. McLeod, A. Govindarajan, C. Fraser, D. Mulhall, F. Zhu, B. Iwasiow, T. Mahood, T. Jackson, M. Aupitz, F. Quereshy, A. Tse, A. Okrainee, R. McLeod, M. Vassiliou, M.C. Jimenez, O. Henao, P. Kaneva, M. Ritter, F.C. Malo, N. McFadden, A. Ouimet, J.M. Aubin, A. Berg, D. Carver, K. Lacelle, M. McGrath, J. Rekman, B. Skinner, K.K. McCormick, F.A. Al-Hinai, C.J. Doig, J.B. Kortbeek, A. Vergis, L. Gillman, K. Hardy, J. Park, J.M. Sutherland, S.M. Hameed, N. Switzer, J. Shum, J. Lampron, H. Jiang, M.L. Leimanis, P. Mossallanejad, L.E. Ferri, C. Anstee, S. Gilbert, D. Maziak, F. Shamji, S. Sundarean, J. Villeneuve, A. Seely, S. Srinathan, L. Tan, G. Buduhan, L. Schneider, C. Finley, C. Schieman, L.A. Linkins, M. Crowther, M. De Perrot, T. Waddell, Y. Shargall, B. Stiles, M. Sudarshan, A. Correa, N. Altorki, W. Hofstetter, R. Rice, J. Shewale, B. Sepesi, M. Antonoff, G. Walsh, S. Swisher, T. Estrera, H. Safi, K. Khalil, N. Andruszkiewicz, C.J. Finley, C. Fahim, F. Farrokhyar, H. Yakubu, R. Addas, D.E. Maziak, P.J. Villeneuve, S. Sundaresan, J. Sulman, W. Xu, Q.Q. Kong, R. Wong, J.J. Knox, C. Thompson, L. Baker, A. Behzadi, J.P. Edwards, W. Chung, M.S. Brar, J. Seto, S.C. Grondin, S. Demay, E. Reynolds, J. Morton, T.K. Waddell, K. Yasufuku, S. Keshavjee, M. Cypel, A. Pierre, M. Hamilton, D. Fortin, E. Frechette, R. Inculet, N. Badner, R. Malthaner, R.A. Malthaner, G. Darling, D. Jones, C. Mueller, M. Leimanis, K. Wanzel, B. Lychacz, C. Compeau, D. Rice, A. Vaporciyan, R. Mehran, J. Roth, J. Lee, N. Baxter, P. Austin, P. Patel, S.S. Hanna, N.G. Coburn, C.H.L. Law, T. Vanounou, V. Falk, P. Collingwood, M. Hogan, A. Mathieson, G. Eeson, Y. Lin, J. Tarshis, S. Hanna, P. Karanicolas, E. Cheng, E.C. Marginean, M. Paquin-Gobeil, J. Wasserman, J. Weaver, R. Mimeault, E. Schadde, A.A. Schnitzbauer, K. Vogt, A. Behari, N. Gupta, R.K. Singh, J.S. Pelletier, C. Abraham, A. Sa Cunha, R. Adam, D. Goére, P. Bachelier, D. Azoulay, A. Ayav, E. Grégoire, F. Navarro, P. Pessaux, H.A. Cano, D. Quan, E. De-Santibañez, M. Tun-Abraham, D. Mirsattari, H.A. Cano-Gonzalez, A. Menard, S. Wong, D. Jalink, W.J. Mackillop, X. Wei, C.M. Booth, A.T. St-Germain, S. Gallinger, D. Dath, Y. Essaji, H. Kaka, M.J. Marcaccio, V. Tandan, T. Tang, F. Yuan, L. Ruo, P. Serrano, R. Raju, M.E. Dixon, E. Shin, Q. Li, N. Liu, C. Earle, N. Mittmann, K. Bertens, J. Hawel, B. Buck, M. Hamel-Smith, S. McCluskey, W.D. Buie, E. Dixon, A.R. MacLean, A. Gomes, S. Jayaraman, J. Khan, Y. LeManach, A.L. Mahar, J. Callum, G. Porter, A. Levy, M. Molinari, K. Devitt, S.A. Guelcher, R. Bendavid, J. Labrecque, G. Brochu, L. Miao, L. Wang, F. Köckerling, J.A. Van Koughnett, B. Howe, S.D. Wexner, I. Datta, C. MacPherson, H. Huang, B. O’Connor, S. Schmocker, E. Kennedy, J.A. Heine, C.E. McGahan, E. Cai, M.J. Raval, P.T. Phang, A.A. Karimuddin, J. Heine, M. Brar, R.J. Hilsden, V. Pelsser, P.H. Gordon, N. Morin, C.A. Vasilevsky, J. Faria, G. Ghitulescu, L. Feldman, M. Boutros, C. Vasilevsky, M. Demian, J. Abou Khalil, P. Gordon, D. Obrand, C.-A. Vasilevsky, C. Brown, M. Raval, P. Phang, G. Liu, R. Crump, J. Sutherland, S. Drolet, T. MacLean, A. Bouchard, P. Bouchard, C. Thibault, R.C. Grégoire, J. Gagné, A.J. Cracco, F.G. Rodrigues, M. Zutshi, B. Gurland, G. da Silva, N.M. Saur, D. Bekele, H. Amer, E.G. Weiss, Y. Bendavid, M. Poirier, F. Heyen, J.F. Latulippe, M. Henri, P.K. Stotland, L.V. Klein, M.A. Aarts, S. Ashamalla, C. Richard, R. Loungnarath, E. Debroux, J. Pelletier, S. Nicholaidis, J-P. Brutus, A. Elnahas, S. Bashir, J. O’Keefe, R. Gregoire, J.P. Gagne, R. Akiba, C. Reategui, G. DaSilva, S. Wexner, E. Weiss, M. Berho, M. Taylor, T. McMullen, H. Singh, F.A. Angarita, C. Nessim, C. van Walraven, M. Guez, M. Beniey, R. Younan, J. Bou-Merhi, A.M. Danino, E. Patocskai, T. Foster, M. McCall, A. Bouchard-Fortier, W. Temple, M.L. Quan, E. Brauner, O. Ben Yshai, R. Almog, A. Beny, Y. Kluger, A.M. Rodriguez-Rivera, S. Krotneva, S. Chang, L. Patakfalvi, T. Landry, A. Meguerditchian, H. Adamson, H. Lim, H. Kennecke, W. Cheung, C. Speers, A.F. McFadden, Y.J. McConnell, A. MacNeill, C. O’Brien, D. Urbach, S.M. Burtenshaw, J. Maxwell, B. Dickson, M. Blackstein, J.M. Escallon, R. Gladdy, F. Zih, E. Maki, C.A. Koch, D.R. McCready, J.S. Simpson, A.C. Tricco, H. Patterson, A. Lazaris, P. Chaurand, P. Metrakos, T.A. Harkness, G. Groot, G.F. Davies, T. Arnason, N.N. Baxter, F.C. Wright, A. Arnaout, M. Cleghorn, W. Jin, H. Yang, R. Pataky, R. Xu, O. Brashavitskaya, H. Wu, C. Go, C.J. Swallow, F. Frankul, C. McGregor, C. Rowsell, C.H. Law, T. Mckee, Y. Wang, E. Lima-Fernandes, B. Wouters, M. Smith, D. Jaffrey, S.D. Cornacchi, N. Hodgson, M. Simunovic, L. Thabane, M.A. O’Brien, B. Strang, S.D. Mukherjee, D. Bhatia, P.J. Lovrics, T. Chesney, M. Englesakis, T. Ungi, C.T. Yeo, G. Fichtinger, R. Walker, J. Rudan, C.J. Engel, J. Swett-Cosentino, A.J. Cannell, S. Burtenshaw, M.E. Blackstein, S. Dumitra, S.-L. Chang, R. Kramer, N. Mayo, A.N. Meguerditchian, N. Duchesne, K.G. Chan, T. Chapman, H. Clarke, J. Dhaliwal, S. Choi, J.W. Busse, P.J. Devereaux, and C. Baliski
Subjects: Surgery
Published: 2015
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14. WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

Author: Nersisyan, L. (Lilit), Nikoghosyan, M. (Maria), Arakelyan, A. (Arsen), Francioli, L.C. (Laurent), Menelaou, A. (Androniki), Pulit, S.L. (Sara), Elbers, C.C. (Clara), Kloosterman, W.P. (Wigard), Setten, J. (Jessica) van, Nijman, I.J. (Isaac ), Renkens, I. (Ivo), de Bakker, P.I.W. (Paul I. W.), Dijk, F. (Freerk) van, Neerincx, P.B.T. (Pieter B T), Deelen, P. (Patrick), Kanterakis, A. (Alexandros), Dijkstra, M. (Martijn), Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, I. (Inge), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Palamara, P.F. (Pier Francesco), Peer, I. (Itsik), Ye, K. (Kai), Lameijer, E.-W. (Eric-Wubbo), Moed, H. (Heleen), Beekman, M. (Marian), Craen, A.J. (Anton) de, Suchiman, H.E.D. (H. Eka D.), Slagboom, P.E. (Eline), Guryev, V. (Victor), Abdellaoui, A. (Abdel), Hottenga, J.J. (Jouke Jan), Kattenberg, V.M. (Mathijs), Willemsen, G.A.H.M. (Gonneke), Boomsma, D.I. (Dorret), van Leeuwen, E.M. (Elisabeth M.), Karssen, L.C. (Lennart), Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A.J. (Aaron), Hofman, A. (Albert), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Oven, M. (Mannis) van, Kayser, M.H. (Manfred), Vermaat, M. (Martijn), Laros, J.F.J. (Jeroen F.), Dunnen, J.T. (Johan) den, Enckevort, D. (David) van, Mei, S. (Shan), Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, B.D.C. (Barbera) van, Bot, J.J. (Jan), Marschall, T. (Tanja), Schönhuth, A. (Alexander), Hehir-Kwa, J. (Jayne), Handsaker, R.E. (Robert), Polak, P., Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada Gil, K. (Karol), McCarroll, S.A. (Steve), Sunyaev, S.R. (Shamil), Hormozdiari, F. (Fereydoun), Koval, V. (Vyacheslav), Medina-Gomez, M.C. (Carolina), Oostra, B.A. (Ben), Veldink, J.H. (Jan), Berg, L.H. (Leonard) van den, Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David), Knijff, P. (Peter) de, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Y. (Yuanping), Chen, R. (Ruoyan), Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, J.A. (Jasper), Ommen, G.J. (Gert) van, Nersisyan, L. (Lilit), Nikoghosyan, M. (Maria), Arakelyan, A. (Arsen), Francioli, L.C. (Laurent), Menelaou, A. (Androniki), Pulit, S.L. (Sara), Elbers, C.C. (Clara), Kloosterman, W.P. (Wigard), Setten, J. (Jessica) van, Nijman, I.J. (Isaac ), Renkens, I. (Ivo), de Bakker, P.I.W. (Paul I. W.), Dijk, F. (Freerk) van, Neerincx, P.B.T. (Pieter B T), Deelen, P. (Patrick), Kanterakis, A. (Alexandros), Dijkstra, M. (Martijn), Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, I. (Inge), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Palamara, P.F. (Pier Francesco), Peer, I. (Itsik), Ye, K. (Kai), Lameijer, E.-W. (Eric-Wubbo), Moed, H. (Heleen), Beekman, M. (Marian), Craen, A.J. (Anton) de, Suchiman, H.E.D. (H. Eka D.), Slagboom, P.E. (Eline), Guryev, V. (Victor), Abdellaoui, A. (Abdel), Hottenga, J.J. (Jouke Jan), Kattenberg, V.M. (Mathijs), Willemsen, G.A.H.M. (Gonneke), Boomsma, D.I. (Dorret), van Leeuwen, E.M. (Elisabeth M.), Karssen, L.C. (Lennart), Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A.J. (Aaron), Hofman, A. (Albert), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Oven, M. (Mannis) van, Kayser, M.H. (Manfred), Vermaat, M. (Martijn), Laros, J.F.J. (Jeroen F.), Dunnen, J.T. (Johan) den, Enckevort, D. (David) van, Mei, S. (Shan), Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, B.D.C. (Barbera) van, Bot, J.J. (Jan), Marschall, T. (Tanja), Schönhuth, A. (Alexander), Hehir-Kwa, J. (Jayne), Handsaker, R.E. (Robert), Polak, P., Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada Gil, K. (Karol), McCarroll, S.A. (Steve), Sunyaev, S.R. (Shamil), Hormozdiari, F. (Fereydoun), Koval, V. (Vyacheslav), Medina-Gomez, M.C. (Carolina), Oostra, B.A. (Ben), Veldink, J.H. (Jan), Berg, L.H. (Leonard) van den, Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David), Knijff, P. (Peter) de, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Y. (Yuanping), Chen, R. (Ruoyan), Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, J.A. (Jasper), and Ommen, G.J. (Gert) van
Abstract: Telomere length (TL) regulation is an important factor in ageing, reproduction and cancer development. Genetic, hereditary and environmental factors regulating TL are currently widely investigated, however, their relative contribution to TL variability is still understudied. We have used whole genome sequencing data of 250 family trios from the Genome of the Netherlands project to perform computational measurement of TL and a series of regression and genome-wide association analyses to reveal TL inheritance patterns and associated genetic factors. Our results confirm that TL is a largely heritable trait, primarily with mother’s, and, to a lesser extent, with father’s TL having the strongest influence on the offspring. In this cohort, mother’s, but not father’s age at conception was positively linked to offspring TL. Age-related TL attrition of 40 bp/year had relatively small influence on TL variability. Finally, we have identified TL-associated variations in ribonuclease reductase catalytic subunit M1 (RRM1 gene), which is known to regulate telomere maintenance in yeast. We also highlight the importance of multivariate approach and the limitations of existing tools for the analysis of TL as a polygenic heritable quantitative trait.
Published: 2019
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15. Modelling of Cerebrospinal Fluid Flow by Computational Fluid Dynamics

Author: Miller, Karol, Miller, K ( Karol ), Kurtcuoglu, Vartan; https://orcid.org/0000-0003-2665-0995, Jain, Kartik, Martin, Bryn A, Miller, Karol, Miller, K ( Karol ), Kurtcuoglu, Vartan; https://orcid.org/0000-0003-2665-0995, Jain, Kartik, and Martin, Bryn A
Published: 2019

16. Skewed X-inactivation is common in the general female population

Author: Shvetsova, E. (Ekaterina), Sofronova, A. (Alina), Monajemi, R. (Ramin), Gagalova, K. (Kristina), Draisma, G. (Gerrit), White, S.J. (Stefan), Santen, G.W.E. (Gijs), Chuva De Sousa Lopes, S.M. (Susana M.), Heijmans, B.T. (Bastiaan T.), van Meurs, J. (Joyce), Jansen, R. (Rick), Franke, L. (Lude), Kielbasa, S.M. (Szymon M.), Dunnen, J.T. (Johan) den, ‘t Hoen, P.A.C. (Peter A. C.), Heijmans, B.T. (Bastiaan T), Meurs, J.B.J. (Joyce) van, Boomsma, D.I. (Dorret), Pool, R. (Reńe), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Greevenbroek, M.M. van, Stehouwer, C.D. (Coen Da), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Wijmenga, C. (Cisca), Zhernakova, S. (Sasha), Tigchelaar, E.F. (Ettje F.), Slagboom, P.E. (Eline), Beekman, M. (Marian), Deelen, J. (Joris), Heemst, D. (Diana) van, Veldink, J.H. (Jan), Berg, L.H. (Leonard) van den, Duijn, C.M. (Cornelia) van, Hofman, B.A. (Bert A), Uitterlinden, A.G. (André), Jhamai, P.M. (Mila), Verbiest, M.M.P.J. (Michael), Suchiman, H.E.D. (H Eka D), Verkerk, M. (Marijn), Breggen, R. (Ruud) van der, van Rooij, J. (Jeroen), Lakenberg, N. (Nico), Mei, S. (Shan), Bot, J. (Jan), Zhernakova, D.V. (Dasha V), van ’t Hof, P. (Peter), Deelen, P. (Patrick), Nooren, I. (Irene), Moed, H. (Heleen), Vermaat, M. (Martijn), Luijk, R. (René), Jan Bonder, M. (Marc), Iterson, M. (Maarten) van, van Dijk, F. (Freerk), Van Galen, M. (Michiel), Arindrarto, W. (Wibowo), Swertz, M.A. (Morris A), Zwet, E.W. (Erik) van, Isaacs, A.J. (Aaron), Francioli, L.C. (Laurent), Menelaou, A. (Androniki), Pulit, S.L. (Sara), Dijk, F. (Freerk) van, Palamara, P.F. (Pier Francesco), Elbers, C.C. (Clara), Neerincx, P.B.T. (Pieter B T), Ye, K. (K.), Guryev, V. (Victor), Kloosterman, W. (Wp), Abdellaoui, A. (Abdel), van Leeuwen, E. (Em), Oven, M. (Mannis) van, Li, M. (M.), Laros, J. (Jf), Karssen, L.C. (Lennart), Kanterakis, A. (Alexandros), Amin, N. (Najaf), Hottenga, J. (Jj), Lameijer, E. (Ew), Kattenberg, V.M. (Mathijs), Dijkstra, M. (Martijn), Byelas, H. (Heorhiy), Setten, J. (Jessica) van, van Schaik, B. (Bd), Bot, J.J. (Jan), Nijman, I. (Ij), Renkens, I. (Ivo), Marschall, T. (Tanja), Schönhuth, A. (A.), Hehir-Kwa, J. (Jayne), Handsaker, R.E. (Robert), Polak, P., Sohail, M. (Mashaal), Vuzman, D. (Dana), Hormozdiari, F. (Fereydoun), Enckevort, D. (David) van, Mei, H. (H.), Koval, V. (Vyacheslav), Moed, M. (Mh), van der Velde, K. (Kj), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Medina-Gomez, M.C. (Carolina), McCarroll, S. (Sa), de Craen, A. (Aj), Suchiman, H. (He), Hofman, B. (Ba), Oostra, B.A. (Ben), Uitterlinden, A. (Ag), Willemsen, G.A.H.M. (Gonneke), Platteel, I. (Inge), Veldink, J. (Jh), van den Berg, L. (Lh), Pitts, S. (Sj), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D. (Dr), Sunyaev, S. (Sr), den Dunnen, J. (Jt), Stoneking, M. (Mark), Knijff, P. (Peter) de, Kayser, M.H. (Manfred), Li, Q. (Q.), Li, Y. (Y.), Du, Y. (Y.), Chen, R. (R.), Cao, H. (H.), Li, N. (N.), Cao, S. (Sherry), Wang, J. (J.), Bovenberg, J.A. (Jasper), Peer, I. (Itsik), Slagboom, P. (Pe), van Duijn, C. (Cm), Boomsma, D. (Di), van Ommen, G. (Gj), de Bakker, P. (Pi), Swertz, M. (Ma), Wijmenga, C. (C.), Shvetsova, E. (Ekaterina), Sofronova, A. (Alina), Monajemi, R. (Ramin), Gagalova, K. (Kristina), Draisma, G. (Gerrit), White, S.J. (Stefan), Santen, G.W.E. (Gijs), Chuva De Sousa Lopes, S.M. (Susana M.), Heijmans, B.T. (Bastiaan T.), van Meurs, J. (Joyce), Jansen, R. (Rick), Franke, L. (Lude), Kielbasa, S.M. (Szymon M.), Dunnen, J.T. (Johan) den, ‘t Hoen, P.A.C. (Peter A. C.), Heijmans, B.T. (Bastiaan T), Meurs, J.B.J. (Joyce) van, Boomsma, D.I. (Dorret), Pool, R. (Reńe), Dongen, J. (Jenny) van, Hottenga, J.J. (Jouke Jan), Greevenbroek, M.M. van, Stehouwer, C.D. (Coen Da), Kallen, C.J. van der, Schalkwijk, C.G. (Casper), Wijmenga, C. (Cisca), Zhernakova, S. (Sasha), Tigchelaar, E.F. (Ettje F.), Slagboom, P.E. (Eline), Beekman, M. (Marian), Deelen, J. (Joris), Heemst, D. (Diana) van, Veldink, J.H. (Jan), Berg, L.H. (Leonard) van den, Duijn, C.M. (Cornelia) van, Hofman, B.A. (Bert A), Uitterlinden, A.G. (André), Jhamai, P.M. (Mila), Verbiest, M.M.P.J. (Michael), Suchiman, H.E.D. (H Eka D), Verkerk, M. (Marijn), Breggen, R. (Ruud) van der, van Rooij, J. (Jeroen), Lakenberg, N. (Nico), Mei, S. (Shan), Bot, J. (Jan), Zhernakova, D.V. (Dasha V), van ’t Hof, P. (Peter), Deelen, P. (Patrick), Nooren, I. (Irene), Moed, H. (Heleen), Vermaat, M. (Martijn), Luijk, R. (René), Jan Bonder, M. (Marc), Iterson, M. (Maarten) van, van Dijk, F. (Freerk), Van Galen, M. (Michiel), Arindrarto, W. (Wibowo), Swertz, M.A. (Morris A), Zwet, E.W. (Erik) van, Isaacs, A.J. (Aaron), Francioli, L.C. (Laurent), Menelaou, A. (Androniki), Pulit, S.L. (Sara), Dijk, F. (Freerk) van, Palamara, P.F. (Pier Francesco), Elbers, C.C. (Clara), Neerincx, P.B.T. (Pieter B T), Ye, K. (K.), Guryev, V. (Victor), Kloosterman, W. (Wp), Abdellaoui, A. (Abdel), van Leeuwen, E. (Em), Oven, M. (Mannis) van, Li, M. (M.), Laros, J. (Jf), Karssen, L.C. (Lennart), Kanterakis, A. (Alexandros), Amin, N. (Najaf), Hottenga, J. (Jj), Lameijer, E. (Ew), Kattenberg, V.M. (Mathijs), Dijkstra, M. (Martijn), Byelas, H. (Heorhiy), Setten, J. (Jessica) van, van Schaik, B. (Bd), Bot, J.J. (Jan), Nijman, I. (Ij), Renkens, I. (Ivo), Marschall, T. (Tanja), Schönhuth, A. (A.), Hehir-Kwa, J. (Jayne), Handsaker, R.E. (Robert), Polak, P., Sohail, M. (Mashaal), Vuzman, D. (Dana), Hormozdiari, F. (Fereydoun), Enckevort, D. (David) van, Mei, H. (H.), Koval, V. (Vyacheslav), Moed, M. (Mh), van der Velde, K. (Kj), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Medina-Gomez, M.C. (Carolina), McCarroll, S. (Sa), de Craen, A. (Aj), Suchiman, H. (He), Hofman, B. (Ba), Oostra, B.A. (Ben), Uitterlinden, A. (Ag), Willemsen, G.A.H.M. (Gonneke), Platteel, I. (Inge), Veldink, J. (Jh), van den Berg, L. (Lh), Pitts, S. (Sj), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D. (Dr), Sunyaev, S. (Sr), den Dunnen, J. (Jt), Stoneking, M. (Mark), Knijff, P. (Peter) de, Kayser, M.H. (Manfred), Li, Q. (Q.), Li, Y. (Y.), Du, Y. (Y.), Chen, R. (R.), Cao, H. (H.), Li, N. (N.), Cao, S. (Sherry), Wang, J. (J.), Bovenberg, J.A. (Jasper), Peer, I. (Itsik), Slagboom, P. (Pe), van Duijn, C. (Cm), Boomsma, D. (Di), van Ommen, G. (Gj), de Bakker, P. (Pi), Swertz, M. (Ma), and Wijmenga, C. (C.)
Abstract: X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We demonstrate that imbalanced expression of the paternal and maternal X-chromosomes is common in the general population and that the random nature of the X-inactivation mechanism can be sufficient to explain the imbalance. To this end, we analyzed blood-derived RNA and whole-genome sequencing data from 79 female children and their parents from the Genome of the Netherlands project. We calculated the median ratio of the paternal over total counts at all X-chromosomal heterozygous single-nucleotide variants with coverage ≥10. We identified two individuals where the same X-chromosome was inactivated in all cells. Imbalanced expression of the two X-chromosomes (ratios ≤0.35 or ≥0.65) was observed in nearly 50% of the population. The empirically observed skewing is explained by a theoretical model where X-inactivation takes place in an embryonic stage in which eight cells give rise to the hematopoietic compartment. Genes escaping X-inactivation are expressed from both alleles and therefore demonstrate less skewing than inactivated genes. Using this characteristic, we identified three novel escapee genes (SSR4, REPS2, and SEPT6), but did not find support for many previously reported escapee genes in blood. Our collective data suggest that skewed X-inactivation is common in the general population. This may contribute to manifestation of symptoms in carriers of recessive X-linked disorders. We recommend that X-inactivation results should not be used lightly in the interpretation of X-linked variants.
Published: 2018
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17. Application of predictive control for manipulator mounted on a satellite

Author: Rybus, T. (Tomasz), Seweryn, K. (Karol), Sasiadek, J. (Jurek), Rybus, T. (Tomasz), Seweryn, K. (Karol), and Sasiadek, J. (Jurek)
Abstract: Specific conditions of on-orbit environment are taken into account in the design of all devices intended to be used in space. Despite this fact malfunctions of satellites occur and sometimes lead to shortening of the satellite operational lifetime. It is considered to use unmanned servicing satellite, that could perform repairs of other satellites. Such satellites equipped with a manipulator, could be used to capture and remove from orbit large space debris. The critical part of planned missions is the capture manoeuvre. In this paper a concept of the control system for the manipulator mounted on the satellite is presented. This control system is composed of the trajectory planning module and model predictive controller (the latter is responsible for ensuring precise realization of the planned trajectory). Numerical simulations performed for the simplified planar case with a 2 DoF manipulator show that the results obtained with the predictive control are better than the results obtained with adaptive control method.
Published: 2018
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18. Twisting, an alternative strategy to compact granular materials

Author: Asencio, K. (Karol), Zuriguel-Ballaz, I. (Iker), and Maza-Ozcoidi, D. (Diego)
Subjects: Física, Granular media
Abstract: Nowadays, the common method to pack granular materials is to tap the ensemble against the gravity. Despite the apparent simplicity of that method, the asymptotic states reached by the tapped systems have strongly dependences on parameters like the shape of the tapping pulse, the container geometry or the ratio between lateral and axial dimensions. Beyond the restrictions imposed by the system boundaries, the particle shape (like rods or tetrahedrons) plays a central role in the evolution and the final state of the ensemble. In this work, we introduce an unconventional method for compacting granular ensembles by applying a sequence of alternating counterrotating pulses or ¿twists¿. By using spherical particles we analyze the efficiency of this method to achieve highly packed configurations.
Published: 2017

19. Adaptive eukaryote-to-eukaryote lateral gene transfer: stress-related genes of algal origin in the closest unicellular relatives of animals

Author: I. H. Miles, A. M. Fagir, K. Karol, and Aurora M. Nedelcu
Subjects: Genetics, Mutation, Gene Transfer, Horizontal, Endosymbiosis, Adaptation, Biological, Eukaryota, Biology, biology.organism_classification, medicine.disease_cause, Genome, Ascorbate Peroxidases, Eukaryotic Cells, Peroxidases, Stress, Physiological, Caspases, Horizontal gene transfer, Gene duplication, medicine, Animals, Eukaryote, Choanoflagellate, Gene, Phylogeny, Ecology, Evolution, Behavior and Systematics
Abstract: In addition to mutation, gene duplication and recombination, the transfer of genetic material between unrelated species is now regarded as a potentially significant player in the shaping of extant genomes and the evolution and diversification of life. Although this is probably true for prokaryotes, the extent of such genetic exchanges in eukaryotes (especially eukaryote-to-eukaryote transfers) is more controversial and the selective advantage and evolutionary impact of such events are less documented. A laterally transferred gene could either be added to the gene complement of the recipient or replace the recipient’s homologue; whereas gene replacements can be either adaptive or stochastic, gene additions are most likely adaptive. Here, we report the finding of four stress-related genes (two ascorbate peroxidase and two metacaspase genes) of algal origin in the closest unicellular relatives of animals, the choanoflagellates. At least three of these sequences represent additions to the choanoflagellate gene complement, which is consistent with these transfers being adaptive. We suggest that these laterally acquired sequences could have provided the primitive choanoflagellates with additional or more efficient means to cope with stress, especially in relation to adapting to freshwater environments and ⁄or sessile or colonial lifestyles.
Published: 2008
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20. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

Author: Zillikens, M.C. (Carola), Stolk, L. (Lisette), Broer, L. (Linda), Amin, N. (Najaf), Campos Obanda, N. (Natalia), Enneman, A.W. (Anke), Estrada Gil, K. (Karol), Hofman, A. (Albert), Kloth, J.S.L. (Jacqueline), Launer, L.J. (Lenore), Medina-Gomez, M.C. (Carolina), Oostra, B.A. (Ben), Zhou, Y. (Yanhua), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Kiel, D.P. (Douglas P.), Zillikens, M.C. (Carola), Stolk, L. (Lisette), Broer, L. (Linda), Amin, N. (Najaf), Campos Obanda, N. (Natalia), Enneman, A.W. (Anke), Estrada Gil, K. (Karol), Hofman, A. (Albert), Kloth, J.S.L. (Jacqueline), Launer, L.J. (Lenore), Medina-Gomez, M.C. (Carolina), Oostra, B.A. (Ben), Zhou, Y. (Yanhua), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), and Kiel, D.P. (Douglas P.)
Abstract: Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body and appendicular lean body mass measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantl
Published: 2017
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21. MAFB enhances oncogenic Notch signaling in T cell acute lymphoblastic leukemia

Author: Pajcini, K.V. (Kostandin V.), Xu, L. (Liang), Shao, L. (Lijian), Petrovic, J. (Jelena), Palasiewicz, K. (Karol), Ohtani, Y. (Yumi), Bailis, W. (Will), Lee, C. (Curtis), Wertheim, G. (Gerald), Mani, R. (Rajeswaran), Musuthamy, N. (Natarajan), Li, Y. (Yunlei), Meijerink, J.P.P. (Jules), Blacklow, S.C. (Stephen C.), Faryabi, R.B. (Robert B.), Cherry, S. (Sara), Pear, W.S. (Warren), Pajcini, K.V. (Kostandin V.), Xu, L. (Liang), Shao, L. (Lijian), Petrovic, J. (Jelena), Palasiewicz, K. (Karol), Ohtani, Y. (Yumi), Bailis, W. (Will), Lee, C. (Curtis), Wertheim, G. (Gerald), Mani, R. (Rajeswaran), Musuthamy, N. (Natarajan), Li, Y. (Yunlei), Meijerink, J.P.P. (Jules), Blacklow, S.C. (Stephen C.), Faryabi, R.B. (Robert B.), Cherry, S. (Sara), and Pear, W.S. (Warren)
Abstract: Activating mutations in the gene encoding the cell-cell contact signaling protein Notch1 are common in human T cell acute lymphoblastic leukemias (T-ALLs). However, expressing Notch1 mutant alleles in mice fails to efficiently induce the develop
Published: 2017
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22. Quantifying prion disease penetrance using large population control cohorts

Author: Minikel, E.V. (Eric Vallabh), Vallabh, S.M. (Sonia M.), Lek, M. (Monkol), Estrada Gil, K. (Karol), Samocha, K.E. (Kaitlin E.), Sathirapongsasuti, J.F. (J. Fah), McLean, C.Y. (Cory Y.), Tung, J.Y. (Joyce Y.), Yu, L.P.C. (Linda P. C.), Gambetti, P. (Pierluigi), Blevins, J. (Janis), Zhang, S. (Shulin), Cohen, Y. (Yvonne), Chen, W. (Wei), Yamada, M., Hamaguchi, T. (Tsuyoshi), Sanjo, N. (Nobuo), Mizusawa, H. (Hidehiro), Nakamura, Y. (Yosikazu), Kitamoto, T. (Tetsuyuki), Collins, S.J. (Steven), Boyd, A. (Alison), Will, R.G. (Robert G.), Knight, R. (Richard), Ponto, C. (Claudia), Zerr, I. (Inga), Kraus, T.F.J. (Theo F.J.), Eigenbrod, S. (Sabina), Giese, A. (Armin), Calero, M. (Miguel), Pedro-Cuesta, J. (Jesús) de, Haik, S., Laplanche, J.-L. (Jean-Louis), Bouaziz-Amar, E. (Elodie), Brandel, J-P. (Jean-Philippe), Capellari, S. (Sabina), Parchi, P. (Piero), Poleggi, A. (Anna), Ladogana, A. (Anna), O'Donnell-Luria, A.H. (Anne H.), Karczewski, K.J. (Konrad), Marshall, J.L. (Jamie L.), Boehnke, M. (Michael), Laakso, M. (Markku), Mohlke, K.L. (Karen), Kähler, J. (Jan), Chambert, K. (Kimberly), McCarroll, S.A. (Steven), Sullivan, P.F. (Patrick F.), Hultman, C.M. (Christina), Purcell, S. (Shaun), Sklar, P. (Pamela), Lee, S.J. (Sven) van der, Rozemuller, A.J.M. (Annemieke), Jansen, C. (Casper), Hofman, A. (Albert), Kraaij, R. (Robert), Rooij, J.G.J. (Jeroen) van, Ikram, M.A. (Arfan), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Daly, M.J. (Mark), MacArthur, D.G. (Daniel G.), Minikel, E.V. (Eric Vallabh), Vallabh, S.M. (Sonia M.), Lek, M. (Monkol), Estrada Gil, K. (Karol), Samocha, K.E. (Kaitlin E.), Sathirapongsasuti, J.F. (J. Fah), McLean, C.Y. (Cory Y.), Tung, J.Y. (Joyce Y.), Yu, L.P.C. (Linda P. C.), Gambetti, P. (Pierluigi), Blevins, J. (Janis), Zhang, S. (Shulin), Cohen, Y. (Yvonne), Chen, W. (Wei), Yamada, M., Hamaguchi, T. (Tsuyoshi), Sanjo, N. (Nobuo), Mizusawa, H. (Hidehiro), Nakamura, Y. (Yosikazu), Kitamoto, T. (Tetsuyuki), Collins, S.J. (Steven), Boyd, A. (Alison), Will, R.G. (Robert G.), Knight, R. (Richard), Ponto, C. (Claudia), Zerr, I. (Inga), Kraus, T.F.J. (Theo F.J.), Eigenbrod, S. (Sabina), Giese, A. (Armin), Calero, M. (Miguel), Pedro-Cuesta, J. (Jesús) de, Haik, S., Laplanche, J.-L. (Jean-Louis), Bouaziz-Amar, E. (Elodie), Brandel, J-P. (Jean-Philippe), Capellari, S. (Sabina), Parchi, P. (Piero), Poleggi, A. (Anna), Ladogana, A. (Anna), O'Donnell-Luria, A.H. (Anne H.), Karczewski, K.J. (Konrad), Marshall, J.L. (Jamie L.), Boehnke, M. (Michael), Laakso, M. (Markku), Mohlke, K.L. (Karen), Kähler, J. (Jan), Chambert, K. (Kimberly), McCarroll, S.A. (Steven), Sullivan, P.F. (Patrick F.), Hultman, C.M. (Christina), Purcell, S. (Shaun), Sklar, P. (Pamela), Lee, S.J. (Sven) van der, Rozemuller, A.J.M. (Annemieke), Jansen, C. (Casper), Hofman, A. (Albert), Kraaij, R. (Robert), Rooij, J.G.J. (Jeroen) van, Ikram, M.A. (Arfan), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Daly, M.J. (Mark), and MacArthur, D.G. (Daniel G.)
Abstract: Copyright
Published: 2016
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23. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Author: Hehir-Kwa, J.Y. (Jayne), Marschall, T. (Tobias), Kloosterman, W.P. (Wigard), Francioli, L.C. (Laurent), Baaijens, J.A. (Jasmijn), Dijkstra, L.J. (Louis), Abdellaoui, A. (Abdel), Koval, V. (Vyacheslav), Thung, (), D.T. (Djie Tjwan), Wardenaar, R. (René), Renkens, I. (Ivo), Coe, B.P. (Bradley), Deelen, P. (Patrick), Ligt, J. (Joep) de, Lameijer, E.-W. (Eric-Wubbo), Dijk, F. (Freerk) van, Hormozdiari, F. (Fereydoun), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Eichler, E.E. (Evan), Bakker, P.I.W. (Paul) de, Swertz, M.A. (Morris), Wijmenga, C. (Cisca), Ommen, G.-J.B. (Gert-Jan) van, Slagboom, P.E. (Eline), Boomsma, D.I. (Dorret), Schönhuth, A. (Alexander), Ye, K. (Kai), Guryev, V. (Victor), Bovenberg, J.A. (Jasper), Craen, A.J.M. (Anton) de, Beekman, M. (Marian), Hofman, A. (Albert), Willemsen, G. (Gonneke), Wolffenbuttel, B. (Bruce), Platteel, M. (Mathieu), Du, Y. (Yuanping), Chen, R. (Ruoyan), Cao, H. (Hongzhi), Cao, R. (Rui), Sun, Y. (Yushen), Cao, J.S. (Jeremy Sujie), Neerincx, P.B.T. (Pieter), Dijkstra, M. (Martijn), Byelas, G. (George), Kanterakis, A. (Alexandros), Bot, J. (Jan), Vermaat, M. (Martijn), Laros, J.F.J. (Jeroen), Dunnen, J.T. (Johan) den, Knijff, P. (Peter) de, Karssen, L.C. (Lennart), van Leeuwen, E.M. (Elisa), Amin, N. (Najaf), Rivadeneira, F. (Fernando), Estrada, K. (Karol), Hottenga, J.-J. (Jouke-Jan), Kattenberg, V.M. (Mathijs), Enckevort, D. (David) van, Mei, H. (Hailiang), Santcroos, M. (Mark), Schaik, B.D.C. (Barbera) van, Handsaker, R.E. (Robert), McCarroll, S.A. (Steven), Ko, A. (Arthur), Sudmant, P. (Peter), Nijman, I.J. (Isaac), Hehir-Kwa, J.Y. (Jayne), Marschall, T. (Tobias), Kloosterman, W.P. (Wigard), Francioli, L.C. (Laurent), Baaijens, J.A. (Jasmijn), Dijkstra, L.J. (Louis), Abdellaoui, A. (Abdel), Koval, V. (Vyacheslav), Thung, (), D.T. (Djie Tjwan), Wardenaar, R. (René), Renkens, I. (Ivo), Coe, B.P. (Bradley), Deelen, P. (Patrick), Ligt, J. (Joep) de, Lameijer, E.-W. (Eric-Wubbo), Dijk, F. (Freerk) van, Hormozdiari, F. (Fereydoun), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Eichler, E.E. (Evan), Bakker, P.I.W. (Paul) de, Swertz, M.A. (Morris), Wijmenga, C. (Cisca), Ommen, G.-J.B. (Gert-Jan) van, Slagboom, P.E. (Eline), Boomsma, D.I. (Dorret), Schönhuth, A. (Alexander), Ye, K. (Kai), Guryev, V. (Victor), Bovenberg, J.A. (Jasper), Craen, A.J.M. (Anton) de, Beekman, M. (Marian), Hofman, A. (Albert), Willemsen, G. (Gonneke), Wolffenbuttel, B. (Bruce), Platteel, M. (Mathieu), Du, Y. (Yuanping), Chen, R. (Ruoyan), Cao, H. (Hongzhi), Cao, R. (Rui), Sun, Y. (Yushen), Cao, J.S. (Jeremy Sujie), Neerincx, P.B.T. (Pieter), Dijkstra, M. (Martijn), Byelas, G. (George), Kanterakis, A. (Alexandros), Bot, J. (Jan), Vermaat, M. (Martijn), Laros, J.F.J. (Jeroen), Dunnen, J.T. (Johan) den, Knijff, P. (Peter) de, Karssen, L.C. (Lennart), van Leeuwen, E.M. (Elisa), Amin, N. (Najaf), Rivadeneira, F. (Fernando), Estrada, K. (Karol), Hottenga, J.-J. (Jouke-Jan), Kattenberg, V.M. (Mathijs), Enckevort, D. (David) van, Mei, H. (Hailiang), Santcroos, M. (Mark), Schaik, B.D.C. (Barbera) van, Handsaker, R.E. (Robert), McCarroll, S.A. (Steven), Ko, A. (Arthur), Sudmant, P. (Peter), and Nijman, I.J. (Isaac)
Abstract: Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full spectrum of these variants nor integrate them into reference panels of genetic variation. Here, we analyse whole genome sequencing data of 769 individuals from 250 Dutch families, and provide a haplotype-resolved map of 1.9 million genome variants across 9 different variant classes, including novel forms of complex indels, and retrotransposition-mediated insertions of mobile elements and processed RNAs. A large proportion are previously under reported variants sized between 21 and 100 bp. We detect 4 megabases of novel sequence, encoding 11 new transcripts. Finally, we show 191 known, trait-associated SNPs to be in strong linkage disequilibrium with SVs and demonstrate that our panel facilitates accurate imputation of SVs in unrelated individuals.
Published: 2016
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24. Radiological Abnormalities of Paranasal Sinuses in Asthmatics with Rhinitis

Author: Promila Bhatia, Rajesh K. Karol, and Mrinal Sircar
Subjects: medicine.medical_specialty, business.industry, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Paranasal sinuses, Otorhinolaryngology, 030220 oncology & carcinogenesis, Radiological weapon, otorhinolaryngologic diseases, medicine, Radiology, 030223 otorhinolaryngology, business, Sinus (anatomy), Asthma
Abstract: A total of 114 patients with asthma and coexisting rhinitis were screened radiologically for abnormalities suggestive of paranasal sinus (PNS) disease. We found such radiological abnormalities in 87 (76.3%) patients. Of these, 79 (90.8%) had involvement of maxillary sinuses, 29 (33.3%) of frontal sinuses, and 8 (9.2%) of sphenoidal sinuses. Sixteen (18.4%) patients had single sinus involvement, none being that of sphenoidal sinuses. We found erect occipito-mental (Water's) view most useful for the radiological screening of the PNS. Significance of these findings and possible clinical implications are reviewed. Radiological evaluation of the PNS is suggested to select patients requiring evaluation for sinusitis.
Published: 1995
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25. Phylogenetic relationships of Lecythidaceae: a cladistic analysis using rbcL sequence and morphological data

Author: C, Morton, S, Mori, G, Prance, K, Karol, and M, Chase
Abstract: This study examined in detail the rbcL sequence and morphological support for subfamilial relationships and monophyly of Lecythidaceae. Initially we needed to establish relationships of Lecythidaceae among other dicot families. To complete this we examined 47 rbcL sequences of 25 families along with molecular observations from several large analyses of rbcL data. All analyses strongly support the monophyly of the asterid III grouping. This analysis revealed Lecythidaceae to be paraphyletic and indicated potential outgroup relationships with Sapotaceae. Once relationships had been evaluated using molecular data we then concentrated on analyzing separate and combined morphological and molecular databases. The topology of the morphological data set was similar to the rbcL sequence and combined data sets except for the positioning of Napoleonaeoideae, Grias, Gustavia, and Oubanguia. According to the combined results, Planchonioideae, Lecythidoideae. and Foetidioideae are monophyletic, whereas the subfamily Napoleonaeoideae are paraphyletic. Nested within Napolconaeoideae, we found Asteronthos forms a strongly supported clade with Oubanguia (Scytopetalaceae). Foetidia, the only genus of Foetidioideae, is sister to Planchonioideae, and this clade is sister to Lecythidoideae. The [(Planchonioideae, Foetidioideae) Lecythidoideae are sister to Asteranthos/Oubanguia. Napoleonaeoideae are sister to the rest of Lecythidaceae.
Published: 2011

26. Circumscription of the Malvales and relationships to other Rosidae: evidence from rbcL sequence data

Author: W, Alverson, K, Karol, D, Baum, M, Chase, S, Swensen, R, McCourt, and K, Sytsma
Abstract: The order Malvales remains poorly circumscribed, despite its seemingly indisputable core constituents: Bombacaceae, Malvaceae, Sterculiaceae, and Tiliaceae. We conducted a two-step parsimony analysis on 125 rbcL sequences to clarify the composition of Malvales, to determine the relationships of some controversial families, and to identify the placement of the Malvales within Rosidae. We sampled taxa that have been previously suggested to be within, or close to, Malvales (83 sequences), plus additional rosids (26 sequences) and nonrosid eudicots (16 sequences) to provide a broader framework for the analysis. The resulting trees strongly support the monophyly of the core malvalean families, listed above. In addition, these data serve to identify a broader group of taxa that are closely associated with the core families. This expanded malvalean clade is composed of four major subclades: (1) the core families (Bombacaceae, Malvaceae, Sterculiaceae, Tiliaceae); (2) Bixaceae, Cochlospermaceae, and Sphaerosepalaceae (Rhopalocarpaceae); (3) Thymelaeaceae sensu lato (s.l.); and (4) Cistaceae, Dipterocarpaceae s.l., Sarcolaenaceae (Chlaenaceae), and Muntingia. In addition, Neurada (Neuradaceae or Rosaceae) falls in the expanded malvalean clade but not clearly within any of the four major subclades. This expanded malvalean clade is sister to either the expanded capparalean clade of Rodman et al. or the sapindalean clade of Gadek et al. Members of Elaeocarpaceae, hypothesized by most authors as a sister group to the four core malvalean families, are shown to not fall close to these taxa. Also excluded as members of, or sister groups to, the expanded malvalean clade were the families Aextoxicaceae, Barbeyaceae, Cannabinaceae, Cecropiaceae, Dichapetalaceae, Elaeagnaceae, Euphorbiaceae s.l., Huaceae, Lecythidaceae, Moraceae s.l., Pandaceae, Plagiopteraceae, Rhamnaceae, Scytopetalaceae, Ulmaceae, and Urticaceae.
Published: 2011

27. Parallel evolution of glucosinolate biosynthesis inferred from congruent nuclear and plastid gene phylogenies

Author: J, Rodman, P, Soltis, D, Soltis, K, Sytsma, and K, Karol
Abstract: The phytochemical system of mustard-oil glucosides (glucosinolates) accompanied by the hydrolytic enzyme myrosinase (beta-thioglucosidase), the latter usually compartmented in special myrosin cells, characterizes plants in 16 families of angiosperms. Traditional classifications place these taxa in many separate orders and thus imply multiple convergences in the origin of this chemical defense system. DNA sequencing of the chloroplast rbcL gene for representatives of all 16 families and several putative relatives, with phylogenetic analyses by parsimony and maximum likelihood methods, demonstrated instead a single major clade of mustard-oil plants and one phylogenetic outlier. In a further independent test, DNA sequencing of the nuclear 18S ribosomal RNA gene for all these exemplars has yielded the same result, a major mustard-oil clade of 15 families (Akaniaceae, Bataceae, Brassicaceae, Bretschneideraceae, Capparaceae, Caricaceae, Gyrostemonaceae, Koeberliniaceae, Limnanthaceae, Moringaceae, Pentadiplandraceae, Resedaceae, Salvadoraceae, Tovariaceae, and Tropaeolaceae) and one outlier, the genus Drypetes, traditionally placed in Euphorbiaceae. Concatenating the two gene sequences (for a total of 3254 nucleotides) in a data set for 33 taxa, we obtain robust support for this finding of parallel origins of glucosinolate biosynthesis. From likely cyanogenic ancestors, the "mustard oil bomb" was invented twice.
Published: 2011

28. New genetic loci link adipose and insulin biology to body fat distribution

Author: Shungin, D. (Dmitry), Winkler, T.W. (Thomas W.), Croteau-Chonka, D.C. (Damien), Ferreira, T. (Teresa), Locke, A. (Adam), Mägi, R. (Reedik), Strawbridge, R.J. (Rona), Pers, T.H. (Tune), Fischer, K. (Krista), Justice, A.E. (Anne), Workalemahu, T. (Tsegaselassie), Wu, J.M.W. (Joseph M. W.), Buchkovich, M.L. (Martin), Heard-Costa, N.L. (Nancy), Roman, T.S. (Tamara S.), Drong, A. (Alexander), Song, C. (Ci), Gustafsson, S. (Stefan), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Kutalik, Z. (Zolta'n), Luan, J., Randall, J.C. (Joshua), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Chen, J. (Jin), Fehrmann, R.S.N. (Rudolf), Karjalainen, J. (Juha), Kahali, B. (Bratati), Liu, C.-T. (Ching-Ti), Schmidt, E.M. (Ellen), Absher, D. (Devin), Amin, N. (Najaf), Beekman, M. (Marian), Bragg-Gresham, J.L. (Jennifer L.), Buyske, S. (Steven), Demirkan, A. (Ayşe), Ehret, G.B. (Georg), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Jackson, A.U. (Anne), Johnson, T. (Toby), Kleber, M.E. (Marcus), Kristiansson, K. (Kati), Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medina-Gomez, M.C. (Carolina), Palmer, C. (Cameron), Pasko, D. (Dorota), Pechlivanis, S. (Sonali), Peters, M.J. (Marjolein), Prokopenko, I. (Inga), Stanca'kova', A. (Alena), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Vliet-Ostaptchouk, J.V. (Jana) van, Yengo, L. (Loic), Zhang, W. (Weihua), Albrecht, E. (Eva), Ärnlöv, J. (Johan), Arscott, G.M. (Gillian M.), Bandinelli, S. (Stefania), Barrett, A. (Angela), Bellis, C. (Claire), Bennett, A.J. (Amanda), Berne, C. (Christian), Blüher, M. (Matthias), Böhringer, S. (Stefan), Bonnet, F. (Fabrice), Böttcher, Y. (Yvonne), Bruinenberg, M. (M.), Carba, D.B. (Delia B.), Caspersen, I.H. (Ida H.), Clarke, R. (Robert), Daw, E.W. (E. Warwick), Deelen, J. (Joris), Deelman, E. (Ewa), Delgado, G., Doney, A.S.F. (Alex), Eklund, N. (Niina), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Eury, E. (Elodie), Friedrich, N. (Nele), Garcia, M. (Melissa), Giedraitis, V. (Vilmantas), Gigante, B. (Bruna), Go, A.T.J.I. (Attie), Golay, A. (Alain), Grallert, H. (Harald), Grammer, T.B. (Tanja), Gräsler, J. (Jürgen), Grewal, J. (Jagvir), Groves, C.J. (Christopher), Haller, T. (Toomas), Hallmans, G. (Göran), Hartman, C.A. (Catharina), Hassinen, M. (Maija), Hayward, C. (Caroline), Heikkilä, K. (Kauko), Herzig, K.H., Helmer, Q. (Quinta), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hunt, S.C. (Steven), Isaacs, A. (Aaron), Ittermann, T. (Till), James, A.L. (Alan), Johansson, I. (Inger), Juliusdottir, T. (Thorhildur), Kalafati, I.-P. (Ioanna-Panagiota), Kinnunen, L. (Leena), Koenig, W. (Wolfgang), Kooner, I.K. (Ishminder K.), Kratzer, W. (Wolfgang), Lamina, C. (Claudia), Leander, K. (Karin), Lee, N.R. (Nanette R.), Lichtner, P. (Peter), Lind, L. (Lars), Lindström, J. (Jaana), Lobbens, S. (Stéphane), Lorentzon, M. (Mattias), MacH, F. (François), Magnusson, P.K. (Patrik), Mahajan, A. (Anubha), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Moayyeri, A. (Alireza), Monda, K.L. (Keri), Mooijaart, S.P. (Simon), Mühleisen, T.W. (Thomas), Mulas, A. (Antonella), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nagaraja, R. (Ramaiah), Nalls, M.A. (Michael), Narisu, N. (Narisu), Glorioso, N. (Nicola), Nolte, I.M. (Ilja M.), Olden, M. (Matthias), Rayner, N.W. (Nigel William), Renström, F. (Frida), Ried, J.S. (Janina), Robertson, N.R. (Neil R.), Rose, L.M. (Lynda), Sanna, S. (Serena), Scharnagl, H. (Hubert), Scholtens, S. (Salome), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Sitlani, C.M. (Colleen), Smith, A.V. (Davey), Stirrups, K. (Kathy), Stringham, H.M. (Heather), Sundstrom, J. (Johan), Swertz, M. (Morris), Swift, A.J. (Amy), Syvanen, A.C., Tayo, B. (Bamidele), Thorand, B. (Barbara), Thorleifsson, G. (Gudmar), Tomaschitz, A. (Andreas), Troffa, C. (Chiara), Oort, F.V.A. (Floor) van, Verweij, N. (Niek), Vonk, J.M. (Judith), Waite, L. (Lindsay), Wennauer, R. (Roman), Wilsgaard, T. (Tom), Wojczynski, M.K. (Mary ), Wong, A. (Andrew), Zhang, Q. (Qunyuan), Zhao, J.H. (Jing Hua), Brennan, E.P. (Eoin P.), Choi, M. (Murim), Eriksson, P. (Per), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Gharavi, A.G. (Ali G.), Hedman, A.K. (Asa), Hivert, M.-F. (Marie-France), Huang, J. (Jinyan), Kanoni, S. (Stavroula), Karpe, F. (Fredrik), Keildson, S. (Sarah), Kiryluk, K. (Krzysztof), Liang, L. (Liming), Lifton, R.P. (Richard), Ma, B. (Baoshan), McKnight, A.J. (Amy J.), McPherson, R. (Ruth), Metspalu, A. (Andres), Min, J.L. (Josine L.), Moffatt, M.F. (Miriam), Montgomery, G.W. (Grant), Murabito, J. (Joanne), Nicholson, G. (Ggeorge), Dimas, A.S. (Antigone), Olsson, C. (Christian), Perry, J.R.B. (John), Reinmaa, E. (Eva), Salem, R.M. (Rany), Sandholm, N. (Niina), Schadt, E.E. (Eric), Scott, R.A. (Robert), Stolk, L. (Lisette), Vallejo, E.E. (Edgar E.), Westra, H.J. (Harm-Jan), Zondervan, K.T. (Krina), Amouyel, P. (Philippe), Arveiler, D. (Dominique), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Bergman, R.N. (Richard), Blangero, J. (John), Brown, M.J. (Morris), Burnier, M. (Michel), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Collins, F.S. (Francis), Crawford, D.C. (Dana), Danesh, J. (John), Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Dörr, M. (Marcus), Erbel, R. (Raimund), Hagen, K. (Knut), Farrall, M. (Martin), Ferrannini, E. (Ele), Ferrieres, J. (Jean), Forouhi, N.G. (Nita), Forrester, T. (Terrence), Franco, O.H. (Oscar), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Heliovaara, M. (Markku), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Homuth, G. (Georg), Humphries, S.E. (Steve), Hypponen, E. (Elina), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Johansen, B. (Berit), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaprio, J. (Jaakko), Kee, F. (F.), Keinanen-Kiukaanniemi, S. (Sirkka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Le Marchand, L. (Loic), Lehtimäki, T. (Terho), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Marette, A. (Andre'), Matise, T.C. (Tara C.), McKenzie, C.A. (Colin A.), McKnight, B. (Barbara), Musk, A.W. (Arthur), Möhlenkamp, S. (Stefan), Morris, A.D. (Andrew), Nelis, M. (Mari), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ong, K.K. (Ken K.), Penninx, B.W.J.H. (Brenda), Peters, A. (Annette), Pramstaller, P.P. (Peter Paul), Raitakari, O. (Olli), Rankinen, T. (Tuomo), Rao, D.C. (Dabeeru C.), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Ritchie, M.D. (Marylyn D.), Rudan, I. (Igor), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sarzynski, M.A. (Mark A.), Schwarz, P.E.H. (Peter E. H.), Shuldiner, A.R. (Alan), Staessen, J.A. (Jan), Steinthorsdottir, V. (Valgerdur), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tremoli, E. (Elena), Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Vollenweider, P. (Peter), Wilson, J.F. (James F), Witteman, J.C.M. (Jacqueline), Adair, L.S. (Linda), Bochud, M. (Murielle), Boehm, B.O. (Bernhard), Bornstein, S.R. (Stefan R.), Bouchard, C. (Claude), Cauchi, S. (Ste'phane), Caulfield, M. (Mark), Chambers, J.C. (John C.), Chasman, D.I. (Daniel), Cooper, R.S. (Richard S.), Dedoussis, G.V. (George), Ferrucci, L. (Luigi), Froguel, P. (Philippe), Grabe, H.J. (Hans Jörgen), Hamsten, A. (Anders), Hui, J. (Jennie), Hveem, K. (Kristian), Jöckel, K.-H. (Karl-Heinz), Kivimaki, M. (Mika), Kuh, D. (Diana), Laakso, M. (Markku), Liu, Y. (YongMei), März, W. (Winfried), Munroe, P. (Patricia), Njølstad, I. (Inger), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Pedersen, N.L. (Nancy L.), Perola, M. (Markus), Perusse, L. (Louis), Peters, U. (Ulrike), Power, C. (Christopher), Quertermous, T. (Thomas), Rauramaa, R. (Rainer), Rivadeneira Ramirez, F. (Fernando), Saaristo, T. (Timo), Saleheen, D., Sinisalo, J. (Juha), Slagboom, P.E. (Eline), Snieder, H. (Harold), Spector, T.D. (Timothy), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Veronesi, G. (Giovanni), Walker, M. (Mark), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Franke, L. (Lude), Frayling, T.M. (Timothy), Groop, L. (Leif), Hunter, D. (David), Kaplan, R.C. (Robert), O´Connell, J.R., Qi, L. (Lu), Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Willer, C.J. (Cristen), Visscher, P.M. (Peter), Yang, J. (Joanna), Hirschhorn, J.N. (Joel N.), Zillikens, M.C. (Carola), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Fox, C.S. (Caroline S.), Barroso, I.E. (Inês), Franks, P.W. (Paul), Anderson, D. (Denise), Ingelsson, E. (Erik), Heid, I.M. (Iris), Loos, R.J.F. (Ruth), Cupples, L.A. (Adrienne), Morris, A.P. (Andrew), Lindgren, C.M. (Cecilia), Mohlke, K.L. (Karen), Shungin, D. (Dmitry), Winkler, T.W. (Thomas W.), Croteau-Chonka, D.C. (Damien), Ferreira, T. (Teresa), Locke, A. (Adam), Mägi, R. (Reedik), Strawbridge, R.J. (Rona), Pers, T.H. (Tune), Fischer, K. (Krista), Justice, A.E. (Anne), Workalemahu, T. (Tsegaselassie), Wu, J.M.W. (Joseph M. W.), Buchkovich, M.L. (Martin), Heard-Costa, N.L. (Nancy), Roman, T.S. (Tamara S.), Drong, A. (Alexander), Song, C. (Ci), Gustafsson, S. (Stefan), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Kutalik, Z. (Zolta'n), Luan, J., Randall, J.C. (Joshua), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Chen, J. (Jin), Fehrmann, R.S.N. (Rudolf), Karjalainen, J. (Juha), Kahali, B. (Bratati), Liu, C.-T. (Ching-Ti), Schmidt, E.M. (Ellen), Absher, D. (Devin), Amin, N. (Najaf), Beekman, M. (Marian), Bragg-Gresham, J.L. (Jennifer L.), Buyske, S. (Steven), Demirkan, A. (Ayşe), Ehret, G.B. (Georg), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Jackson, A.U. (Anne), Johnson, T. (Toby), Kleber, M.E. (Marcus), Kristiansson, K. (Kati), Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medina-Gomez, M.C. (Carolina), Palmer, C. (Cameron), Pasko, D. (Dorota), Pechlivanis, S. (Sonali), Peters, M.J. (Marjolein), Prokopenko, I. (Inga), Stanca'kova', A. (Alena), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Vliet-Ostaptchouk, J.V. (Jana) van, Yengo, L. (Loic), Zhang, W. (Weihua), Albrecht, E. (Eva), Ärnlöv, J. (Johan), Arscott, G.M. (Gillian M.), Bandinelli, S. (Stefania), Barrett, A. (Angela), Bellis, C. (Claire), Bennett, A.J. (Amanda), Berne, C. (Christian), Blüher, M. (Matthias), Böhringer, S. (Stefan), Bonnet, F. (Fabrice), Böttcher, Y. (Yvonne), Bruinenberg, M. (M.), Carba, D.B. (Delia B.), Caspersen, I.H. (Ida H.), Clarke, R. (Robert), Daw, E.W. (E. Warwick), Deelen, J. (Joris), Deelman, E. (Ewa), Delgado, G., Doney, A.S.F. (Alex), Eklund, N. (Niina), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Eury, E. (Elodie), Friedrich, N. (Nele), Garcia, M. (Melissa), Giedraitis, V. (Vilmantas), Gigante, B. (Bruna), Go, A.T.J.I. (Attie), Golay, A. (Alain), Grallert, H. (Harald), Grammer, T.B. (Tanja), Gräsler, J. (Jürgen), Grewal, J. (Jagvir), Groves, C.J. (Christopher), Haller, T. (Toomas), Hallmans, G. (Göran), Hartman, C.A. (Catharina), Hassinen, M. (Maija), Hayward, C. (Caroline), Heikkilä, K. (Kauko), Herzig, K.H., Helmer, Q. (Quinta), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hunt, S.C. (Steven), Isaacs, A. (Aaron), Ittermann, T. (Till), James, A.L. (Alan), Johansson, I. (Inger), Juliusdottir, T. (Thorhildur), Kalafati, I.-P. (Ioanna-Panagiota), Kinnunen, L. (Leena), Koenig, W. (Wolfgang), Kooner, I.K. (Ishminder K.), Kratzer, W. (Wolfgang), Lamina, C. (Claudia), Leander, K. (Karin), Lee, N.R. (Nanette R.), Lichtner, P. (Peter), Lind, L. (Lars), Lindström, J. (Jaana), Lobbens, S. (Stéphane), Lorentzon, M. (Mattias), MacH, F. (François), Magnusson, P.K. (Patrik), Mahajan, A. (Anubha), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Moayyeri, A. (Alireza), Monda, K.L. (Keri), Mooijaart, S.P. (Simon), Mühleisen, T.W. (Thomas), Mulas, A. (Antonella), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nagaraja, R. (Ramaiah), Nalls, M.A. (Michael), Narisu, N. (Narisu), Glorioso, N. (Nicola), Nolte, I.M. (Ilja M.), Olden, M. (Matthias), Rayner, N.W. (Nigel William), Renström, F. (Frida), Ried, J.S. (Janina), Robertson, N.R. (Neil R.), Rose, L.M. (Lynda), Sanna, S. (Serena), Scharnagl, H. (Hubert), Scholtens, S. (Salome), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Sitlani, C.M. (Colleen), Smith, A.V. (Davey), Stirrups, K. (Kathy), Stringham, H.M. (Heather), Sundstrom, J. (Johan), Swertz, M. (Morris), Swift, A.J. (Amy), Syvanen, A.C., Tayo, B. (Bamidele), Thorand, B. (Barbara), Thorleifsson, G. (Gudmar), Tomaschitz, A. (Andreas), Troffa, C. (Chiara), Oort, F.V.A. (Floor) van, Verweij, N. (Niek), Vonk, J.M. (Judith), Waite, L. (Lindsay), Wennauer, R. (Roman), Wilsgaard, T. (Tom), Wojczynski, M.K. (Mary ), Wong, A. (Andrew), Zhang, Q. (Qunyuan), Zhao, J.H. (Jing Hua), Brennan, E.P. (Eoin P.), Choi, M. (Murim), Eriksson, P. (Per), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Gharavi, A.G. (Ali G.), Hedman, A.K. (Asa), Hivert, M.-F. (Marie-France), Huang, J. (Jinyan), Kanoni, S. (Stavroula), Karpe, F. (Fredrik), Keildson, S. (Sarah), Kiryluk, K. (Krzysztof), Liang, L. (Liming), Lifton, R.P. (Richard), Ma, B. (Baoshan), McKnight, A.J. (Amy J.), McPherson, R. (Ruth), Metspalu, A. (Andres), Min, J.L. (Josine L.), Moffatt, M.F. (Miriam), Montgomery, G.W. (Grant), Murabito, J. (Joanne), Nicholson, G. (Ggeorge), Dimas, A.S. (Antigone), Olsson, C. (Christian), Perry, J.R.B. (John), Reinmaa, E. (Eva), Salem, R.M. (Rany), Sandholm, N. (Niina), Schadt, E.E. (Eric), Scott, R.A. (Robert), Stolk, L. (Lisette), Vallejo, E.E. (Edgar E.), Westra, H.J. (Harm-Jan), Zondervan, K.T. (Krina), Amouyel, P. (Philippe), Arveiler, D. (Dominique), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Bergman, R.N. (Richard), Blangero, J. (John), Brown, M.J. (Morris), Burnier, M. (Michel), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Collins, F.S. (Francis), Crawford, D.C. (Dana), Danesh, J. (John), Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Dörr, M. (Marcus), Erbel, R. (Raimund), Hagen, K. (Knut), Farrall, M. (Martin), Ferrannini, E. (Ele), Ferrieres, J. (Jean), Forouhi, N.G. (Nita), Forrester, T. (Terrence), Franco, O.H. (Oscar), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Heliovaara, M. (Markku), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Homuth, G. (Georg), Humphries, S.E. (Steve), Hypponen, E. (Elina), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Johansen, B. (Berit), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaprio, J. (Jaakko), Kee, F. (F.), Keinanen-Kiukaanniemi, S. (Sirkka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Le Marchand, L. (Loic), Lehtimäki, T. (Terho), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Marette, A. (Andre'), Matise, T.C. (Tara C.), McKenzie, C.A. (Colin A.), McKnight, B. (Barbara), Musk, A.W. (Arthur), Möhlenkamp, S. (Stefan), Morris, A.D. (Andrew), Nelis, M. (Mari), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ong, K.K. (Ken K.), Penninx, B.W.J.H. (Brenda), Peters, A. (Annette), Pramstaller, P.P. (Peter Paul), Raitakari, O. (Olli), Rankinen, T. (Tuomo), Rao, D.C. (Dabeeru C.), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Ritchie, M.D. (Marylyn D.), Rudan, I. (Igor), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sarzynski, M.A. (Mark A.), Schwarz, P.E.H. (Peter E. H.), Shuldiner, A.R. (Alan), Staessen, J.A. (Jan), Steinthorsdottir, V. (Valgerdur), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tremoli, E. (Elena), Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Vollenweider, P. (Peter), Wilson, J.F. (James F), Witteman, J.C.M. (Jacqueline), Adair, L.S. (Linda), Bochud, M. (Murielle), Boehm, B.O. (Bernhard), Bornstein, S.R. (Stefan R.), Bouchard, C. (Claude), Cauchi, S. (Ste'phane), Caulfield, M. (Mark), Chambers, J.C. (John C.), Chasman, D.I. (Daniel), Cooper, R.S. (Richard S.), Dedoussis, G.V. (George), Ferrucci, L. (Luigi), Froguel, P. (Philippe), Grabe, H.J. (Hans Jörgen), Hamsten, A. (Anders), Hui, J. (Jennie), Hveem, K. (Kristian), Jöckel, K.-H. (Karl-Heinz), Kivimaki, M. (Mika), Kuh, D. (Diana), Laakso, M. (Markku), Liu, Y. (YongMei), März, W. (Winfried), Munroe, P. (Patricia), Njølstad, I. (Inger), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Pedersen, N.L. (Nancy L.), Perola, M. (Markus), Perusse, L. (Louis), Peters, U. (Ulrike), Power, C. (Christopher), Quertermous, T. (Thomas), Rauramaa, R. (Rainer), Rivadeneira Ramirez, F. (Fernando), Saaristo, T. (Timo), Saleheen, D., Sinisalo, J. (Juha), Slagboom, P.E. (Eline), Snieder, H. (Harold), Spector, T.D. (Timothy), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Veronesi, G. (Giovanni), Walker, M. (Mark), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Franke, L. (Lude), Frayling, T.M. (Timothy), Groop, L. (Leif), Hunter, D. (David), Kaplan, R.C. (Robert), O´Connell, J.R., Qi, L. (Lu), Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Willer, C.J. (Cristen), Visscher, P.M. (Peter), Yang, J. (Joanna), Hirschhorn, J.N. (Joel N.), Zillikens, M.C. (Carola), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Fox, C.S. (Caroline S.), Barroso, I.E. (Inês), Franks, P.W. (Paul), Anderson, D. (Denise), Ingelsson, E. (Erik), Heid, I.M. (Iris), Loos, R.J.F. (Ruth), Cupples, L.A. (Adrienne), Morris, A.P. (Andrew), Lindgren, C.M. (Cecilia), and Mohlke, K.L. (Karen)
Abstract: Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10-8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Published: 2015
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29. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Author: Zheng, H.-F. (Hou-Feng), Forgetta, V. (Vincenzo), Hsu, Y.-H. (Yi-Hsiang), Estrada Gil, K. (Karol), Rosello-Diez, A. (Alberto), Leo, P.J. (Paul), Dahia, C.L. (Chitra L.), Park-Min, K.H. (Kyung Hyun), Tobias, J.H. (Jon), Kooperberg, C. (Charles), Kleinman, A. (Aaron), Styrkarsdottir, U. (Unnur), Liu, C.-T. (Ching-Ti), Uggla, C. (Charlotta), Evans, D.S. (Daniel), Nielson, C. (Carrie), Walter, K. (Klaudia), Pettersson-Kymmer, U. (Ulrika), McCarthy, S. (Shane), Eriksson, J. (Joel), Kwan, T. (Tony), Jhamai, M. (Mila), Trajanoska, K. (Katerina), Memari, Y. (Yasin), Min, J.L. (Josine L.), Huang, J. (Jie), Danecek, P. (Petr), Wilmot, B. (Beth), Li, R. (Rui), Chou, W.-C. (Wen-Chi), Mokry, L.E. (Lauren E.), Moayyeri, A. (Alireza), Claussnitzer, M. (Melina), Cheng, C.-H. (Chia-Ho), Cheung, W. (Warren), Medina-Gomez, M.C. (Carolina), Ge, B. (Bing), Chen, S.-H. (Shu-Huang), Choi, K. (Kunho), Oei, L. (Ling), Fraser, J. (James), Kraaij, R. (Robert), Hibbs, M.A. (Matthew A.), Gregson, C.L. (Celia L.), Paquette, D. (Denis), Hofman, A. (Albert), Wibom, C. (Carl), Tranah, G.J. (Gregory), Marshall, M. (Mhairi), Gardiner, B.B. (Brooke B.), Cremin, K. (Katie), Auer, P. (Paul), Hsu, L. (Li), Ring, S. (Susan), Tung, J.Y. (Joyce Y.), Thorleifsson, G. (Gudmar), Enneman, A.W. (Anke), Schoor, N.M. (Natasja) van, Groot, L.C.P.G.M. (Lisette) de, Velde, N. (Nathalie) van der, Melin, B. (Beatrice), Kemp, J.P. (John), Christiansen, C., Sayers, I. (Ian), Zhou, Y. (Yanhua), Calderari, S. (Sophie), Rooij, J.G.J. (Jeroen) van, Carlson, C. (Chris), Peters, U. (Ulrike), Berlivet, S. (Soizik), Dostie, J. (Josée), Uitterlinden, A.G. (André), Williams, S.R. (Stephen R.), Farber, C. (Charles), Grinberg, D. (Daniel), LaCroix, A.Z. (Andrea), Haessler, J. (Jeff), Chasman, D.I. (Daniel), Giulianini, F. (Franco), Rose, L.M. (Lynda M.), Ridker, P.M. (Paul), Eisman, J.A. (John), Nguyen, T.V. (Tuan), Center, J.R. (Jacqueline), Nogues, X. (Xavier), Garcia-Giralt, N. (Natàlia), Launer, L.J. (Lenore), Gudnason, V. (Vilmunder), Mellström, D. (Dan), Vandenput, L. (Liesbeth), Amin, N. (Najaf), Duijn, C.M. (Cornelia) van, Karlsson, M. (Magnus), Ljunggren, O. (Östen), Svensson, O. (Olle), Hallmans, G. (Göran), Rousseau, M.F. (Francois), Giroux, S. (Sylvie), Bussière, J. (Johanne), Arp, P.P. (Pascal), Koromani, F. (Fjorda), Prince, R.L. (Richard L.), Lewis, J.R. (Joshua), Langdahl, B.L. (Bente), Hermann, A.P. (A. Pernille), Jensen, J.-E.B. (Jens-Erik B.), Kaptoge, S. (Stephen), Khaw, K.T., Reeve, J. (Jonathan), Formosa, M.M. (Melissa M.), Xuereb-Anastasi, A. (Angela), Åkesson, K. (Kristina), McGuigan, F.E., Garg, G. (Gaurav), Olmos, D. (David), Zarrabeitia, M.T. (María), Riancho, J.A. (José), Ralston, S.H. (Stuart), Alonso, N. (Nerea), Jiang, X. (Xi), Goltzman, D. (David), Pastinen, T. (Tomi), Grundberg, E. (Elin), Gauguier, D. (Dominique), Orwoll, E.S. (Eric), Karasik, D. (David), Smith, A.V. (Davey), Siggeirsdottir, K. (Kristin), Harris, T.B. (Tamara), Zillikens, M.C. (Carola), Meurs, J.B.J. (Joyce) van, Thorsteinsdottir, U. (Unnur), Maurano, M.T. (Matthew T.), Timpson, N.J. (Nicholas), Soranzo, N. (Nicole), Durbin, R. (Richard), Wilson, S.G. (Scott), Ntzani, E.E. (Evangelia), Brown, M.A. (Matthew), Zwart, J-A. (John-Anker), Hinds, D.A. (David A.), Spector, T.D. (Timothy), Cupples, L.A. (Adrienne), Ohlsson, C. (Claes), Greenwood, C.M.T. (Celia), Jackson, R.D. (Rebecca), Rowe, D.W. (David W.), Loomis, C.A. (Cynthia A.), Evans, D.M. (David M.), Ackert-Bicknell, C.L. (Cheryl), Joyner, A.L. (Alexandra L.), Duncan, E.L. (Emma), Kiel, D.P. (Douglas P.), Rivadeneira Ramirez, F. (Fernando), Richards, J.B. (Brent), Zheng, H.-F. (Hou-Feng), Forgetta, V. (Vincenzo), Hsu, Y.-H. (Yi-Hsiang), Estrada Gil, K. (Karol), Rosello-Diez, A. (Alberto), Leo, P.J. (Paul), Dahia, C.L. (Chitra L.), Park-Min, K.H. (Kyung Hyun), Tobias, J.H. (Jon), Kooperberg, C. (Charles), Kleinman, A. (Aaron), Styrkarsdottir, U. (Unnur), Liu, C.-T. (Ching-Ti), Uggla, C. (Charlotta), Evans, D.S. (Daniel), Nielson, C. (Carrie), Walter, K. (Klaudia), Pettersson-Kymmer, U. (Ulrika), McCarthy, S. (Shane), Eriksson, J. (Joel), Kwan, T. (Tony), Jhamai, M. (Mila), Trajanoska, K. (Katerina), Memari, Y. (Yasin), Min, J.L. (Josine L.), Huang, J. (Jie), Danecek, P. (Petr), Wilmot, B. (Beth), Li, R. (Rui), Chou, W.-C. (Wen-Chi), Mokry, L.E. (Lauren E.), Moayyeri, A. (Alireza), Claussnitzer, M. (Melina), Cheng, C.-H. (Chia-Ho), Cheung, W. (Warren), Medina-Gomez, M.C. (Carolina), Ge, B. (Bing), Chen, S.-H. (Shu-Huang), Choi, K. (Kunho), Oei, L. (Ling), Fraser, J. (James), Kraaij, R. (Robert), Hibbs, M.A. (Matthew A.), Gregson, C.L. (Celia L.), Paquette, D. (Denis), Hofman, A. (Albert), Wibom, C. (Carl), Tranah, G.J. (Gregory), Marshall, M. (Mhairi), Gardiner, B.B. (Brooke B.), Cremin, K. (Katie), Auer, P. (Paul), Hsu, L. (Li), Ring, S. (Susan), Tung, J.Y. (Joyce Y.), Thorleifsson, G. (Gudmar), Enneman, A.W. (Anke), Schoor, N.M. (Natasja) van, Groot, L.C.P.G.M. (Lisette) de, Velde, N. (Nathalie) van der, Melin, B. (Beatrice), Kemp, J.P. (John), Christiansen, C., Sayers, I. (Ian), Zhou, Y. (Yanhua), Calderari, S. (Sophie), Rooij, J.G.J. (Jeroen) van, Carlson, C. (Chris), Peters, U. (Ulrike), Berlivet, S. (Soizik), Dostie, J. (Josée), Uitterlinden, A.G. (André), Williams, S.R. (Stephen R.), Farber, C. (Charles), Grinberg, D. (Daniel), LaCroix, A.Z. (Andrea), Haessler, J. (Jeff), Chasman, D.I. (Daniel), Giulianini, F. (Franco), Rose, L.M. (Lynda M.), Ridker, P.M. (Paul), Eisman, J.A. (John), Nguyen, T.V. (Tuan), Center, J.R. (Jacqueline), Nogues, X. (Xavier), Garcia-Giralt, N. (Natàlia), Launer, L.J. (Lenore), Gudnason, V. (Vilmunder), Mellström, D. (Dan), Vandenput, L. (Liesbeth), Amin, N. (Najaf), Duijn, C.M. (Cornelia) van, Karlsson, M. (Magnus), Ljunggren, O. (Östen), Svensson, O. (Olle), Hallmans, G. (Göran), Rousseau, M.F. (Francois), Giroux, S. (Sylvie), Bussière, J. (Johanne), Arp, P.P. (Pascal), Koromani, F. (Fjorda), Prince, R.L. (Richard L.), Lewis, J.R. (Joshua), Langdahl, B.L. (Bente), Hermann, A.P. (A. Pernille), Jensen, J.-E.B. (Jens-Erik B.), Kaptoge, S. (Stephen), Khaw, K.T., Reeve, J. (Jonathan), Formosa, M.M. (Melissa M.), Xuereb-Anastasi, A. (Angela), Åkesson, K. (Kristina), McGuigan, F.E., Garg, G. (Gaurav), Olmos, D. (David), Zarrabeitia, M.T. (María), Riancho, J.A. (José), Ralston, S.H. (Stuart), Alonso, N. (Nerea), Jiang, X. (Xi), Goltzman, D. (David), Pastinen, T. (Tomi), Grundberg, E. (Elin), Gauguier, D. (Dominique), Orwoll, E.S. (Eric), Karasik, D. (David), Smith, A.V. (Davey), Siggeirsdottir, K. (Kristin), Harris, T.B. (Tamara), Zillikens, M.C. (Carola), Meurs, J.B.J. (Joyce) van, Thorsteinsdottir, U. (Unnur), Maurano, M.T. (Matthew T.), Timpson, N.J. (Nicholas), Soranzo, N. (Nicole), Durbin, R. (Richard), Wilson, S.G. (Scott), Ntzani, E.E. (Evangelia), Brown, M.A. (Matthew), Zwart, J-A. (John-Anker), Hinds, D.A. (David A.), Spector, T.D. (Timothy), Cupples, L.A. (Adrienne), Ohlsson, C. (Claes), Greenwood, C.M.T. (Celia), Jackson, R.D. (Rebecca), Rowe, D.W. (David W.), Loomis, C.A. (Cynthia A.), Evans, D.M. (David M.), Ackert-Bicknell, C.L. (Cheryl), Joyner, A.L. (Alexandra L.), Duncan, E.L. (Emma), Kiel, D.P. (Douglas P.), Rivadeneira Ramirez, F. (Fernando), and Richards, J.B. (Brent)
Abstract: The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants, as well as rare, population-specific, coding variants. Here we identify novel non-coding genetic variants with large effects on BMD (ntotal = 53,236) and fracture (ntotal = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole-genome sequencing (n = 2,882 from UK10K (ref. 10); a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). We identified a low-frequency non-coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD (rs11692564(T), MAF = 1.6%, replication effect size = +0.20 s.d., Pmeta = 2 × 10-14), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 × 10-11; ncases = 98,742 and n controls = 409,511). Using an En1 cre/flox mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low-frequency non-coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size = +0.41 s.d., Pmeta = 1 × 10-11). In general, there was an excess of association signals arising from deleterious coding and conserved non-coding variants. These findings provide evidence that low-frequency non-coding variants have large effects on BMD and fracture, thereby providing rationale for whole-genome sequencing and improved imputation
Published: 2015
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30. Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci

Author: Reppe, S. (Sjur), Wang, Y. (Yunpeng), Thompson, W.K. (Wesley K.), McEvoy, L.K. (Linda K.), Schork, N.J. (Nicholas), Zuber, V. (Verena), Leblanc, M. (Marissa), Bettella, F. (Francesco), Mills, I.G. (Ian G.), Desikan, R.S. (Rahul S.), Djurovic, S. (Srdjan), Gautvik, K.M. (Kaare), Dale, A.M. (Anders), Andreassen, O.A. (Ole), Estrada Gil, K. (Karol), Styrkarsdottir, U. (Unnur), Evangelou, E. (Evangelos), Hsu, Y.-H. (Yi-Hsiang), Duncan, E.L. (Emma), Ntzani, E.E. (Evangelia), Oei, L. (Ling), Albagha, O.M.E. (Omar M.), Amin, N. (Najaf), Kemp, J.P. (John), Koller, D.L. (Daniel), Li, G. (Guo), Liu, C.-T. (Ching-Ti), Minster, R.L. (Ryan), Moayyeri, A. (Alireza), Vandenput, L. (Liesbeth), Willner, D. (Dana), Xiao, S.-M. (Su-Mei), Yerges-Armstrong, L.M. (Laura), Zheng, H.-F. (Hou-Feng), Alonso, N. (Nerea), Eriksson, J. (Joel), Kammerer, C.M. (Candace), Kaptoge, S. (Stephen), Leo, P.J. (Paul), Thorleifsson, G. (Gudmar), Wilson, S.G. (Scott), Wilson, J.F. (James F), Aalto, V. (Ville), Alen, M. (Markku), Aragaki, A.K. (Aaron), Aspelund, T. (Thor), Center, J.R. (Jacqueline), Dailiana, Z. (Zoe), Duggan, C., Garcia, M. (Melissa), Garcia-Giralt, N. (Natàlia), Giroux, S. (Sylvie), Hallmans, G. (Göran), Hocking, L.J. (Lynne), Husted, L.B. (Lise Bjerre), Jameson, K. (Karen), Khusainova, R. (Rita), Kim, G.S. (Ghi Su), Kooperberg, C. (Charles), Koromila, T. (Theodora), Kruk, M. (Marcin), Laaksonen, M. (Marika), Lacroix, A.Z. (Andrea Z.), Lee, S.H. (Seung Hun), Leung, P.C. (Ping C.), Lewis, J.R. (Joshua), Masi, L. (Laura), Mencej-Bedrac, S. (Simona), Nguyen, T.V. (Tuan), Nogues, X. (Xavier), Patel, M.S. (Millan), Prezelj, J. (Janez), Rose, L.M. (Lynda), Scollen, S. (Serena), Siggeirsdottir, K. (Kristin), Smith, A.V. (Davey), Svensson, O. (Olle), Trompet, S. (Stella), Trummer, O. (Olivia), Schoor, N.M. (Natasja) van, Woo, J. (Jean), Zhu, K. (Kun), Balcells, S. (Susana), Brandi, M.L., Buckley, B.M. (Brendan M.), Cheng, S. (Sulin), Christiansen, C., Cooper, C. (Charles), Dedoussis, G.V. (George), Ford, I. (Ian), Frost, M. (Morten), Goltzman, D. (David), González-Macías, J. (Jesús), Kähönen, M. (Mika), Karlsson, M. (Magnus), Khusnutdinova, E.K. (Elza), Koh, J.-M. (Jung-Min), Kollia, P. (Panagoula), Langdahl, B.L. (Bente), Leslie, W.D. (William D.), Lips, P. (Paul), Ljunggren, O. (Östen), Lorenc, R. (Roman), Marc, J. (Janja), Mellström, D. (Dan), Obermayer-Pietsch, B. (Barbara), Olmos, D. (David), Pettersson-Kymmer, U. (Ulrika), Reid, D.M. (David), Riancho, J.A. (José), Ridker, P.M. (Paul), Rousseau, M.F. (Francois), Slagboom, P.E. (Eline), Tang, N.L.S. (Nelson L.S.), Urreizti, R. (Roser), Van Hul, W. (Wim), Viikari, J. (Jorma), Zarrabeitia, M.T. (María), Aulchenko, Y.S. (Yurii), Castaño Betancourt, M.C. (Martha), Grundberg, E. (Elin), Herrera, L. (Lizbeth), Ingvarsson, T. (Torvaldur), Johannsdottir, H. (Hrefna), Kwan, T. (Tony), Li, R. (Rui), Luben, R.N. (Robert), Medina-Gomez, M.C. (Carolina), Palsson, S.T. (Stefan Th), Rotter, J.I. (Jerome I.), Sigurdsson, G. (Gunnar), Meurs, J.B.J. (Joyce) van, Verlaan, D.J. (Dominique), Williams, F.M. (Frances), Wood, A.R. (Andrew), Zhou, Y. (Yanhua), Pastinen, T. (Tomi), Raychaudhuri, S. (Soumya), Cauley, J.A. (Jane), Chasman, D.I. (Daniel), Clark, G.R. (Graeme), Cummings, S.R. (Steven R.), Danoy, P. (Patrick), Dennison, E.M. (Elaine), Eastell, R. (Richard), Eisman, J.A. (John), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Jackson, R.D. (Rebecca), Jones, G. (Graeme), Jukema, J.W. (Jan Wouter), Khaw, K.T., Lehtimäki, T. (Terho), Liu, Y. (YongMei), Lorentzon, M. (Mattias), McCloskey, E.V. (Eugene), Mitchell, B.D. (Braxton), Nandakumar, K. (Kannabiran), Nicholson, G.C. (Geoffrey), Oostra, B.A. (Ben), Peacock, M. (Munro), Pols, H.A.P. (Huib), Prince, R.L. (Richard), Raitakari, O. (Olli), Reid, I.R. (Ian), Robbins, J. (John), Sambrook, P.N. (Philip), Sham, P.C. (Pak Chung), Shuldiner, A.R. (Alan), Tylavsky, F.A. (Frances), Duijn, C.M. (Cornelia) van, Wareham, N.J. (Nicholas J.), Cupples, L.A. (Adrienne), Econs, M.J. (Michael), Evans, D.M. (David), Harris, T.B. (Tamara B.), Kung, A.W.C. (Annie Wai Chee), Psaty, B.M. (Bruce), Reeve, J. (Jonathan), Spector, T.D. (Timothy), Streeten, E.A. (Elizabeth), Zillikens, M.C. (Carola), Thorsteinsdottir, U. (Unnur), Ohlsson, C. (Claes), Karasik, D. (David), Richards, J.B. (Brent), Brown, M.A. (Matthew), Zwart, J-A. (John-Anker), Uitterlinden, A.G. (André), Ralston, S.H. (Stuart), Ioannidis, J.P.A. (John P.A.), Kiel, D.P. (Douglas P.), Rivadeneira Ramirez, F. (Fernando), Reppe, S. (Sjur), Wang, Y. (Yunpeng), Thompson, W.K. (Wesley K.), McEvoy, L.K. (Linda K.), Schork, N.J. (Nicholas), Zuber, V. (Verena), Leblanc, M. (Marissa), Bettella, F. (Francesco), Mills, I.G. (Ian G.), Desikan, R.S. (Rahul S.), Djurovic, S. (Srdjan), Gautvik, K.M. (Kaare), Dale, A.M. (Anders), Andreassen, O.A. (Ole), Estrada Gil, K. (Karol), Styrkarsdottir, U. (Unnur), Evangelou, E. (Evangelos), Hsu, Y.-H. (Yi-Hsiang), Duncan, E.L. (Emma), Ntzani, E.E. (Evangelia), Oei, L. (Ling), Albagha, O.M.E. (Omar M.), Amin, N. (Najaf), Kemp, J.P. (John), Koller, D.L. (Daniel), Li, G. (Guo), Liu, C.-T. (Ching-Ti), Minster, R.L. (Ryan), Moayyeri, A. (Alireza), Vandenput, L. (Liesbeth), Willner, D. (Dana), Xiao, S.-M. (Su-Mei), Yerges-Armstrong, L.M. (Laura), Zheng, H.-F. (Hou-Feng), Alonso, N. (Nerea), Eriksson, J. (Joel), Kammerer, C.M. (Candace), Kaptoge, S. (Stephen), Leo, P.J. (Paul), Thorleifsson, G. (Gudmar), Wilson, S.G. (Scott), Wilson, J.F. (James F), Aalto, V. (Ville), Alen, M. (Markku), Aragaki, A.K. (Aaron), Aspelund, T. (Thor), Center, J.R. (Jacqueline), Dailiana, Z. (Zoe), Duggan, C., Garcia, M. (Melissa), Garcia-Giralt, N. (Natàlia), Giroux, S. (Sylvie), Hallmans, G. (Göran), Hocking, L.J. (Lynne), Husted, L.B. (Lise Bjerre), Jameson, K. (Karen), Khusainova, R. (Rita), Kim, G.S. (Ghi Su), Kooperberg, C. (Charles), Koromila, T. (Theodora), Kruk, M. (Marcin), Laaksonen, M. (Marika), Lacroix, A.Z. (Andrea Z.), Lee, S.H. (Seung Hun), Leung, P.C. (Ping C.), Lewis, J.R. (Joshua), Masi, L. (Laura), Mencej-Bedrac, S. (Simona), Nguyen, T.V. (Tuan), Nogues, X. (Xavier), Patel, M.S. (Millan), Prezelj, J. (Janez), Rose, L.M. (Lynda), Scollen, S. (Serena), Siggeirsdottir, K. (Kristin), Smith, A.V. (Davey), Svensson, O. (Olle), Trompet, S. (Stella), Trummer, O. (Olivia), Schoor, N.M. (Natasja) van, Woo, J. (Jean), Zhu, K. (Kun), Balcells, S. (Susana), Brandi, M.L., Buckley, B.M. (Brendan M.), Cheng, S. (Sulin), Christiansen, C., Cooper, C. (Charles), Dedoussis, G.V. (George), Ford, I. (Ian), Frost, M. (Morten), Goltzman, D. (David), González-Macías, J. (Jesús), Kähönen, M. (Mika), Karlsson, M. (Magnus), Khusnutdinova, E.K. (Elza), Koh, J.-M. (Jung-Min), Kollia, P. (Panagoula), Langdahl, B.L. (Bente), Leslie, W.D. (William D.), Lips, P. (Paul), Ljunggren, O. (Östen), Lorenc, R. (Roman), Marc, J. (Janja), Mellström, D. (Dan), Obermayer-Pietsch, B. (Barbara), Olmos, D. (David), Pettersson-Kymmer, U. (Ulrika), Reid, D.M. (David), Riancho, J.A. (José), Ridker, P.M. (Paul), Rousseau, M.F. (Francois), Slagboom, P.E. (Eline), Tang, N.L.S. (Nelson L.S.), Urreizti, R. (Roser), Van Hul, W. (Wim), Viikari, J. (Jorma), Zarrabeitia, M.T. (María), Aulchenko, Y.S. (Yurii), Castaño Betancourt, M.C. (Martha), Grundberg, E. (Elin), Herrera, L. (Lizbeth), Ingvarsson, T. (Torvaldur), Johannsdottir, H. (Hrefna), Kwan, T. (Tony), Li, R. (Rui), Luben, R.N. (Robert), Medina-Gomez, M.C. (Carolina), Palsson, S.T. (Stefan Th), Rotter, J.I. (Jerome I.), Sigurdsson, G. (Gunnar), Meurs, J.B.J. (Joyce) van, Verlaan, D.J. (Dominique), Williams, F.M. (Frances), Wood, A.R. (Andrew), Zhou, Y. (Yanhua), Pastinen, T. (Tomi), Raychaudhuri, S. (Soumya), Cauley, J.A. (Jane), Chasman, D.I. (Daniel), Clark, G.R. (Graeme), Cummings, S.R. (Steven R.), Danoy, P. (Patrick), Dennison, E.M. (Elaine), Eastell, R. (Richard), Eisman, J.A. (John), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Jackson, R.D. (Rebecca), Jones, G. (Graeme), Jukema, J.W. (Jan Wouter), Khaw, K.T., Lehtimäki, T. (Terho), Liu, Y. (YongMei), Lorentzon, M. (Mattias), McCloskey, E.V. (Eugene), Mitchell, B.D. (Braxton), Nandakumar, K. (Kannabiran), Nicholson, G.C. (Geoffrey), Oostra, B.A. (Ben), Peacock, M. (Munro), Pols, H.A.P. (Huib), Prince, R.L. (Richard), Raitakari, O. (Olli), Reid, I.R. (Ian), Robbins, J. (John), Sambrook, P.N. (Philip), Sham, P.C. (Pak Chung), Shuldiner, A.R. (Alan), Tylavsky, F.A. (Frances), Duijn, C.M. (Cornelia) van, Wareham, N.J. (Nicholas J.), Cupples, L.A. (Adrienne), Econs, M.J. (Michael), Evans, D.M. (David), Harris, T.B. (Tamara B.), Kung, A.W.C. (Annie Wai Chee), Psaty, B.M. (Bruce), Reeve, J. (Jonathan), Spector, T.D. (Timothy), Streeten, E.A. (Elizabeth), Zillikens, M.C. (Carola), Thorsteinsdottir, U. (Unnur), Ohlsson, C. (Claes), Karasik, D. (David), Richards, J.B. (Brent), Brown, M.A. (Matthew), Zwart, J-A. (John-Anker), Uitterlinden, A.G. (André), Ralston, S.H. (Stuart), Ioannidis, J.P.A. (John P.A.), Kiel, D.P. (Douglas P.), and Rivadeneira Ramirez, F. (Fernando)
Abstract: Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity.
Published: 2015
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31. Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study

Author: Medina-Gomez, M.C. (Carolina), Felix, J.F. (Janine), Estrada Gil, K. (Karol), Peters, M.J. (Marjolein), Herrera, L. (Lizbeth), Kruithof, C.J. (Claudia), Duijts, L. (Liesbeth), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Uitterlinden, A.G. (André), Jaddoe, V.W.V. (Vincent), Rivadeneira Ramirez, F. (Fernando), Medina-Gomez, M.C. (Carolina), Felix, J.F. (Janine), Estrada Gil, K. (Karol), Peters, M.J. (Marjolein), Herrera, L. (Lizbeth), Kruithof, C.J. (Claudia), Duijts, L. (Liesbeth), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Uitterlinden, A.G. (André), Jaddoe, V.W.V. (Vincent), and Rivadeneira Ramirez, F. (Fernando)
Abstract: Genome-wide association studies (GWAS) have been successful in identifying loci associated with a wide range of complex human traits and diseases. Up to now, the majority of GWAS have focused on European populations. However, the inclusion of other ethnic groups as well as admixed populations in GWAS studies is rapidly rising following the pressing need to extrapolate findings to non-European populations and to increase statistical power. In this paper, we describe the methodological steps surrounding genetic data generation, quality control, study design and analytical procedures needed to run GWAS in the multiethnic and highly admixed Generation R Study, a large prospective birth cohort in Rotterdam, the Netherlands. Furthermore, we highlight a number of practical considerations and alternatives pertinent to the quality control and analysis of admixed GWAS data.
Published: 2015
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32. Evaluación de la resistencia de un aislado bacteriano nativo compatible con Pseudomona sp. al insecticida Lorsban 4 EC

Author: Quinchía-Figueroa, A. M. (Adriana María), Gomez-Velasquez, F. A. (Felipe Andres), Palencia-Penagos, K. (Karol), and Giraldo-Lopera, C. E. (Clara Eugenia)
Subjects: PESTICIDES, BACTERIA - ISOLATION & PURIFICATION, PLAGUICIDA, AISLAMIENTO BACTERIANO, TECNOLOGÍAS PARA LA SALUD, LORSBAN 4 EC, BACTERIAS - AISLAMIENTO & PURIFICACIÓN, BACTERIAL CULTURE, REI00041, PSEUDOMONA SP
Abstract: Se evaluó la resistencia de un aislado bacteriano compatible con Pseudomona sp. frente al insecticida Lorsban 4EC (ingrediente activo Chlorpyrifos) a escala de laboratorio. El aislado bacteriano se obtuvo a partir de un suelo del Oriente Antioqueño sometido a la aplicación del insecticida para el cultivo de pastos. Al suelo se le analizaron los principales factores que afectan la movilidad y adsorción del insecticida en él, se obtuvieron como resultados un porcentaje alto de materia orgánica, elementos mayores y menores así como media a alta capacidad de intercambio catiónico, lo que facilita la adsorción del plaguicida en su fracción coloidal de la micela orgánica e inorgánica. La textura franco arenosa del suelo genera buena aireación, que favorece los procesos de volatilización y degradación del plaguicida. El aislado bacteriano se expuso a diferentes concentraciones del insecticida (480 ppm, 4.800 ppm, 24.000 ppm y 48.000 ppm), evaluando de esta manera el efecto del agente sobre la población bacteriana. Según los resultados de los ensayos, la bacteria nativa compatible con Pseudomona sp. es resistente al insecticida con las concentraciones estudiadas y puede poseer la capacidad de degradar el insecticida. The resistance of an isolated bacterial culture compatible with Pseudomona sp. to the insecticide Lorsban 4 EC (active ingredient Chlorpyrifos) was evaluated at laboratory scale. The bacterial culture was isolated from a soil sample obtained in East Antioquia that was exposed to the application of the insecticide which is used in grass culture. The principal factors that affect the mobility and adsorption of insecticides in soil were analyzed. The results showed a high percentage of organic matter, and macro and micronutrients as well as medium to high cationic capacity of exchange, which facilitates the adsorption of the pesticide in the colloidal fraction of organic and inorganic fraction. The sandy texture of the soil generates good aeration that favors the processes of volatilization and degradation of the pesticide. Isolated bacterial culture was exposed to different concentrations of the insecticide (480, 4,800, 24,000 and 48,000 ppm), to evaluate the effect of the agent on the bacterial population. According to the results of the tests, the native isolated bacterium compatible with Pseudomona sp. is resistant to the insecticide concentrations studied and possibly has the capacity to degrade the Lorsban 4 EC.
Published: 2006

33. Phenotypic Dissection of Bone Mineral Density Reveals Skeletal Site Specificity and Facilitates the Identification of Novel Loci in the Genetic Regulation of Bone Mass Attainment

Author: Kemp, J.P. (John), Medina-Gomez, M.C. (Carolina), Estrada Gil, K. (Karol), St Pourcain, B. (Beate), Heppe, D.H.M. (Denise), Warrington, N.M. (Nicole), Oei, L. (Ling), Ring, S.M. (Susan), Kruithof, C.J. (Claudia), Timpson, N.J. (Nicholas), Wolber, L.E. (Lisa), Reppe, S. (Sjur), Gautvik, K.M. (Kaare), Grundberg, E. (Elin), Ge, B. (Bing), Eerden, B.C.J. (Bram) van der, Peppel, J. (Jeroen) van de, Hibbs, M.A. (Matthew), Ackert-Bicknell, C.L. (Cheryl), Choi, K. (Kunho), Koller, D.L. (Daniel), Econs, M.J. (Michael), Williams, F.M. (Frances), Foroud, T. (Tatiana), Zillikens, M.C. (Carola), Ohlsson, C. (Claes), Hofman, A. (Albert), Uitterlinden, A.G. (André), Davey-Smith, G. (George), Jaddoe, V.W.V. (Vincent), Tobias, J.H. (Jon), Rivadeneira Ramirez, F. (Fernando), Evans, D.M. (David), Kemp, J.P. (John), Medina-Gomez, M.C. (Carolina), Estrada Gil, K. (Karol), St Pourcain, B. (Beate), Heppe, D.H.M. (Denise), Warrington, N.M. (Nicole), Oei, L. (Ling), Ring, S.M. (Susan), Kruithof, C.J. (Claudia), Timpson, N.J. (Nicholas), Wolber, L.E. (Lisa), Reppe, S. (Sjur), Gautvik, K.M. (Kaare), Grundberg, E. (Elin), Ge, B. (Bing), Eerden, B.C.J. (Bram) van der, Peppel, J. (Jeroen) van de, Hibbs, M.A. (Matthew), Ackert-Bicknell, C.L. (Cheryl), Choi, K. (Kunho), Koller, D.L. (Daniel), Econs, M.J. (Michael), Williams, F.M. (Frances), Foroud, T. (Tatiana), Zillikens, M.C. (Carola), Ohlsson, C. (Claes), Hofman, A. (Albert), Uitterlinden, A.G. (André), Davey-Smith, G. (George), Jaddoe, V.W.V. (Vincent), Tobias, J.H. (Jon), Rivadeneira Ramirez, F. (Fernando), and Evans, D.M. (David)
Abstract: Heritability of bone mineral density (BMD) varies across skeletal sites, reflecting different relative contributions of genetic and environmental influences. To quantify the degree to which common genetic variants tag and environmental factors influence BMD, at different sites, we estimated the genetic (rg) and residual (re) correlations between BMD measured at the upper limbs (UL-BMD), lower limbs (LL-BMD) and skull (SK-BMD), using total-body DXA scans of ~4,890 participants recruited by the Avon Longitudinal Study of Parents and their Children (ALSPAC). Point estimates of rg indicated that appendicular sites have a greater proportion of shared genetic architecture (LL-/UL-BMD rg = 0.78) between them, than with the skull (UL-/SK-BMD rg = 0.58 and LL-/SK-BMD rg = 0.43). Likewise, the residual correlation between BMD at appendicular sites (re = 0.55) was higher than the residual correlation between SK-BMD and BMD at appendicular sites (re = 0.20-0.24). To explore the basis for
Published: 2014
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34. Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of the Netherlands'

Author: Deelen, P. (Patrick), Menelaou, A. (Androniki), Leeuwen, E.M. (Elisa) van, Kanterakis, A. (Alexandros), Dijk, F. (Freerk) van, Medina-Gomez, M.C. (Carolina), Francioli, L.C. (Laurent), Hottenga, J.J. (Jouke Jan), Karssen, L.C. (Lennart), Estrada Gil, K. (Karol), Kreiner-Møller, E. (Eskil), Rivadeneira Ramirez, F. (Fernando), Setten, J. (Jessica) van, Gutierrez-Achury, J. (Javier), Westra, H.J. (Harm-Jan), Franke, L. (Lude), Enckevort, D. (David) van, Dijkstra, M.K., Byelas, H. (Heorhiy), Duijn, C.M. (Cornelia) van, Bakker, P.I.W. (Paul) de, Wijmenga, C. (Cisca), Swertz, M. (Morris), Deelen, P. (Patrick), Menelaou, A. (Androniki), Leeuwen, E.M. (Elisa) van, Kanterakis, A. (Alexandros), Dijk, F. (Freerk) van, Medina-Gomez, M.C. (Carolina), Francioli, L.C. (Laurent), Hottenga, J.J. (Jouke Jan), Karssen, L.C. (Lennart), Estrada Gil, K. (Karol), Kreiner-Møller, E. (Eskil), Rivadeneira Ramirez, F. (Fernando), Setten, J. (Jessica) van, Gutierrez-Achury, J. (Javier), Westra, H.J. (Harm-Jan), Franke, L. (Lude), Enckevort, D. (David) van, Dijkstra, M.K., Byelas, H. (Heorhiy), Duijn, C.M. (Cornelia) van, Bakker, P.I.W. (Paul) de, Wijmenga, C. (Cisca), and Swertz, M. (Morris)
Abstract: Although genome-wide association studies (GWAS) have identified many common variants associated with complex traits, low-frequency and rare variants have not been interrogated in a comprehensive manner. Imputation from dense reference panels, such as the 1000 Genomes Project (1000G), enables testing of ungenotyped variants for association. Here we present the results of imputation using a large, new population-specific panel: the Genome of The Netherlands (GoNL). We benchmarked the performance of the 1000G and GoNL reference sets by comparing imputation genotypes with 'true' genotypes typed on ImmunoChip in three European populations (Dutch, British, and Italian). GoNL showed significant improvement in the imputation quality for rare variants (MAF 0.05-0.5%) compared with 1000G. In Dutch samples, the mean observed Pearson correlation, r 2, increased from 0.61 to 0.71. We
Published: 2014
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35. Improving accuracy of rare variant imputation with a two-step imputation approach

Author: Kreiner-Møller, E. (Eskil), Medina-Gomez, M.C. (Carolina), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Kreiner-Møller, E. (Eskil), Medina-Gomez, M.C. (Carolina), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), and Estrada Gil, K. (Karol)
Published: 2014
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36. The Genome of the Netherlands: Design, and project goals

Author: Boomsma, D.I. (Dorret), Wijmenga, C. (Cisca), Slagboom, P.E. (Eline), Swertz, M. (Morris), Karssen, L.C. (Lennart), Abdellaoui, A. (Abdel), Ye, K. (Kai), Guryev, V. (Victor), Vermaat, J.S. (Joost), Dijk, F. (Freerk) van, Francioli, L.C. (Laurent), Hottenga, J.J. (Jouke Jan), Laros, J.F.J. (Jeroen F.), Li, Q. (Qibin), Li, Y. (Yingrui), Cao, H. (Hongzhi), Chen, R. (Ruoyan), Du, Y. (Yangchun), Li, N. (Ning), Cao, S. (Sherry), Setten, J. (Jessica) van, Menelaou, A. (Androniki), Pulit, S.L. (Sara), Hehir-Kwa, J. (Jayne), Beekman, M. (Marian), Elbers, C.C. (Clara), Byelas, H. (Heorhiy), Craen, A.J. (Anton) de, Deelen, P. (Patrick), Dijkstra, M. (Martijn), Dunnen, J.T. (Johan) den, Knijff, P. (Peter) de, Houwing-Duistermaat, J.J. (Jeanine), Koval, V. (Vyacheslav), Estrada Gil, K. (Karol), Hofman, A. (Albert), Kanterakis, A. (Alexandros), Enckevort, D. (David) van, Mai, H. (Hailiang), Kattenberg, V.M. (Mathijs), Leeuwen, E.M. (Elisa) van, Neerincx, P.B.T. (Pieter B T), Oostra, B.A. (Ben), Rivadeneira Ramirez, F. (Fernando), Suchiman, H.E.D. (Eka), Uitterlinden, A.G. (André), Willemsen, G.A.H.M. (Gonneke), Wolffenbuttel, B.H.R. (Bruce), Wang, J. (Jinxia), Bakker, P.I.W. (Paul) de, Ommen, G.J. (Gert) van, Duijn, C.M. (Cornelia) van, Boomsma, D.I. (Dorret), Wijmenga, C. (Cisca), Slagboom, P.E. (Eline), Swertz, M. (Morris), Karssen, L.C. (Lennart), Abdellaoui, A. (Abdel), Ye, K. (Kai), Guryev, V. (Victor), Vermaat, J.S. (Joost), Dijk, F. (Freerk) van, Francioli, L.C. (Laurent), Hottenga, J.J. (Jouke Jan), Laros, J.F.J. (Jeroen F.), Li, Q. (Qibin), Li, Y. (Yingrui), Cao, H. (Hongzhi), Chen, R. (Ruoyan), Du, Y. (Yangchun), Li, N. (Ning), Cao, S. (Sherry), Setten, J. (Jessica) van, Menelaou, A. (Androniki), Pulit, S.L. (Sara), Hehir-Kwa, J. (Jayne), Beekman, M. (Marian), Elbers, C.C. (Clara), Byelas, H. (Heorhiy), Craen, A.J. (Anton) de, Deelen, P. (Patrick), Dijkstra, M. (Martijn), Dunnen, J.T. (Johan) den, Knijff, P. (Peter) de, Houwing-Duistermaat, J.J. (Jeanine), Koval, V. (Vyacheslav), Estrada Gil, K. (Karol), Hofman, A. (Albert), Kanterakis, A. (Alexandros), Enckevort, D. (David) van, Mai, H. (Hailiang), Kattenberg, V.M. (Mathijs), Leeuwen, E.M. (Elisa) van, Neerincx, P.B.T. (Pieter B T), Oostra, B.A. (Ben), Rivadeneira Ramirez, F. (Fernando), Suchiman, H.E.D. (Eka), Uitterlinden, A.G. (André), Willemsen, G.A.H.M. (Gonneke), Wolffenbuttel, B.H.R. (Bruce), Wang, J. (Jinxia), Bakker, P.I.W. (Paul) de, Ommen, G.J. (Gert) van, and Duijn, C.M. (Cornelia) van
Abstract: Within the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the European BBMRI. One of the aims of BBMRI-NL is to enrich biobanks with different types of molecular and phenotype data. Here, we describe the Genome of the Netherlands (GoNL), one of the projects within BBMRI-NL. GoNL is a whole-genome-sequencing project in a representative sample consisting of 250 trio-families from all provinces in the Netherlands, which aims to characterize DNA sequence variation in the Dutch population. The parent-offspring trios include adult individuals ranging in age from 19 to 87 years (mean=53 years; SD=16 years) from birth cohorts 1910-1994. Sequencing was done on blood-derived DNA from uncultured cells and accomplished coverage was 14-15x. The family-based design represents a unique resource to assess the frequency of regional variants, accurately reconstruct haplotypes by family-based phasing, characterize short indels and complex structural variants, and establish the rate of de novo mutational events. GoNL will also serve as a reference panel for imputation in the available genome-wide association studies in Dutch and other cohorts to refine association signals and uncover population-specific variants. GoNL will create a catalog of human genetic variation in this sample that is uniquely characterized with respect to micro-geographic location and a wide range of phenotypes. The resource will be made available to the research and medical community to guide the interpretation of sequencing projects. The present paper summarizes the global characteristics of the project.
Published: 2014
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37. A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

Author: Oei, L. (Ling), Hsu, Y.-H. (Yi-Hsiang), Styrkarsdottir, U. (Unnur), Eussen, H.J.F.M.M. (Bert), Klein, J.E.M.M. (Annelies) de, Peters, M.J. (Marjolein), Halldorsson, B.V. (Bjarni), Liu, C.-T. (Ching-Ti), Alonso, N. (Nerea), Kaptoge, S. (Stephen), Thorleifsson, G. (Gudmar), Hallmans, G. (Göran), Hocking, L.J. (Lynne), Husted, L.B. (Lise Bjerre), Jameson, K. (Karen), Kingdom, M.K. (Marcin KrUnited), Lewis, J.R. (Joshua), Patel, M.S. (Millan), Scollen, S. (Serena), Svensson, O. (Olle), Trompet, S. (Stella), Schoor, N.M. (Natasja) van, Zhu, K. (Kun), Buckley, B.M. (Brendan M.), Cooper, C. (Charles), Ford, I. (Ian), Goltzman, D. (David), González-Macías, J. (Jesús), Langdahl, B.L. (Bente), Leslie, W.D. (William), Lips, P. (Paul), Lorenc, R. (Roman), Olmos, D. (David), Pettersson-Kymmer, U. (Ulrika), Reid, D.M. (David), Riancho, J.A. (José), Slagboom, P.E. (Eline), Garcia-Ibarbia, C. (Carmen), Ingvarsson, T. (Torvaldur), Johannsdottir, H. (Hrefna), Luben, R.N. (Robert), Medina-Gomez, M.C. (Carolina), Arp, P.P. (Pascal), Nandakumar, K. (Kannabiran), Palsson, S.T. (Stefan Th), Sigurdsson, G. (Gunnar), Meurs, J.B.J. (Joyce) van, Zhou, Y. (Yanhua), Hofman, A. (Albert), Jukeme, J.W. (J. Wouter), Pols, H.A.P. (Huib), Prince, R.L. (Richard), Cupples, L.A. (Adrienne), Marshall, C.R. (Christian), Pinto, D. (Duane), Sato, D.K. (DaisUnited Kingdome), Scherer, S.W. (Stephen), Reeve, J. (Jonathan), Thorsteinsdottir, U. (Unnur), Karasik, D. (David), Richards, J.B. (Brent), Zwart, J-A. (John-Anker), Uitterlinden, A.G. (André), Ralston, S.H. (Stuart), Ioannidis, J.P.A. (John), Kiel, D.P. (Douglas), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Oei, L. (Ling), Hsu, Y.-H. (Yi-Hsiang), Styrkarsdottir, U. (Unnur), Eussen, H.J.F.M.M. (Bert), Klein, J.E.M.M. (Annelies) de, Peters, M.J. (Marjolein), Halldorsson, B.V. (Bjarni), Liu, C.-T. (Ching-Ti), Alonso, N. (Nerea), Kaptoge, S. (Stephen), Thorleifsson, G. (Gudmar), Hallmans, G. (Göran), Hocking, L.J. (Lynne), Husted, L.B. (Lise Bjerre), Jameson, K. (Karen), Kingdom, M.K. (Marcin KrUnited), Lewis, J.R. (Joshua), Patel, M.S. (Millan), Scollen, S. (Serena), Svensson, O. (Olle), Trompet, S. (Stella), Schoor, N.M. (Natasja) van, Zhu, K. (Kun), Buckley, B.M. (Brendan M.), Cooper, C. (Charles), Ford, I. (Ian), Goltzman, D. (David), González-Macías, J. (Jesús), Langdahl, B.L. (Bente), Leslie, W.D. (William), Lips, P. (Paul), Lorenc, R. (Roman), Olmos, D. (David), Pettersson-Kymmer, U. (Ulrika), Reid, D.M. (David), Riancho, J.A. (José), Slagboom, P.E. (Eline), Garcia-Ibarbia, C. (Carmen), Ingvarsson, T. (Torvaldur), Johannsdottir, H. (Hrefna), Luben, R.N. (Robert), Medina-Gomez, M.C. (Carolina), Arp, P.P. (Pascal), Nandakumar, K. (Kannabiran), Palsson, S.T. (Stefan Th), Sigurdsson, G. (Gunnar), Meurs, J.B.J. (Joyce) van, Zhou, Y. (Yanhua), Hofman, A. (Albert), Jukeme, J.W. (J. Wouter), Pols, H.A.P. (Huib), Prince, R.L. (Richard), Cupples, L.A. (Adrienne), Marshall, C.R. (Christian), Pinto, D. (Duane), Sato, D.K. (DaisUnited Kingdome), Scherer, S.W. (Stephen), Reeve, J. (Jonathan), Thorsteinsdottir, U. (Unnur), Karasik, D. (David), Richards, J.B. (Brent), Zwart, J-A. (John-Anker), Uitterlinden, A.G. (André), Ralston, S.H. (Stuart), Ioannidis, J.P.A. (John), Kiel, D.P. (Douglas), Rivadeneira Ramirez, F. (Fernando), and Estrada Gil, K. (Karol)
Abstract: Background Osteoporosis is a systemic skeletal disease characterised by reduced bone mineral density and increased susceptibility to fracture; these traits are highly heritable. Both common and rare copy number variants (CNVs) potentially affect the function of genes and may influence disease risk. Aim To identify CNVs associated with osteoporotic bone fracture risk. Method We performed a genome-wide CNV association study in 5178 individuals from a prospective cohort in the Netherlands, including 809 osteoporotic fracture cases, and performed in silico lookups and de novo genotyping to replicate in several independent studies. Results A rare (population prevalence 0.14%, 95% CI 0.03% to 0.24%) 210 kb deletion located on chromosome 6p25.1 was associated with the risk of fracture (OR 32.58, 95% CI 3.95 to 1488.89; p=8.69×10−5). We performed an in silico meta-analysis in four studies with CNV microarray data and the association with fracture risk was replicated (OR 3.11, 95% CI 1.01 to 8.22; p=0.02). The prevalence of this deletion showed geographic diversity, being absent in additional samples from Australia, Canada, Poland, Iceland, Denmark, and Sweden, but present in the Netherlands (0.34%), Spain (0.33%), USA (0.23%), England (0.15%), Scotland (0.10%), and Ireland (0.06%), with insufficient evidence for association with fracture risk. Conclusions These results suggest that deletions in the 6p25.1 locus may predispose to higher risk of fracture in a subset of populations of European origin; larger and geographically restricted studies will be needed to confirm this regional association. This is a first step towards the evaluation of the role of rare CNVs in osteoporosis.
Published: 2014
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38. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Author: Berndt, S.I. (Sonja), Gustafsson, S. (Stefan), Mägi, R. (Reedik), Ganna, A. (Andrea), Wheeler, E. (Eleanor), Feitosa, M.F. (Mary Furlan), Justice, A.E. (Anne), Monda, K.L. (Keri), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Ferreira, T. (Teresa), Gentilini, D. (Davide), Jackson, A.U. (Anne), Luan, J., Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Willer, C.J. (Cristen), Winkler, T.W. (Thomas), Wood, A.R. (Andrew), Workalemahu, T. (Tsegaselassie), Hu, Y.-J. (Yi-Juan), Lee, S.H. (Sang Hong), Liang, L. (Liming), Lin, D.Y. (Dan), Min, J. (Josine), Neale, B.M. (Benjamin), Thorleifsson, G. (Gudmar), Yang, J. (Jian), Albrecht, E. (Eva), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Heijer, M. (Martin) den, Eklund, N. (Niina), Fischer, K. (Krista), Goel, A. (Anuj), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jarick, I. (Ivonne), Johansson, A. (Åsa), Johnson, T. (Toby), Kanoni, S. (Stavroula), Kleber, M.E. (Marcus), König, I.R. (Inke), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lamina, C. (Claudia), Lecoeur, C. (Cécile), Li, G. (Guo), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Medina-Gomez, M.C. (Carolina), Müller-Nurasyid, M. (Martina), Ngwa, J.S., Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Pechlivanis, S. (Sonali), Perola, M. (Markus), Peters, M.J. (Marjolein), Preuss, M. (Michael), Rose, L.M. (Lynda), Shi, J. (Jianxin), Shungin, D. (Dmitry), Smith, A.V. (Davey), Strawbridge, R.J. (Rona), Surakka, I. (Ida), Teumer, A. (Alexander), Trip, M.D. (Mieke), Tyrer, J.P. (Jonathan), Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Waite, L. (Lindsay), Zhao, J.H. (Jing Hua), Absher, D. (Devin), Asselbergs, F.W. (Folkert), Atalay, M. (Mustafa), Attwood, A.P. (Antony), Balmforth, A.J. (Anthony), Basart, D.C.G. (Dick), Beilby, J.P. (John), Bonnycastle, L.L. (Lori), Brambilla, P. (Paolo), Bruinenberg, M. (M.), Campbell, H. (Harry), Chasman, D.I. (Daniel), Chines, P.S. (Peter), Collins, F.S. (Francis), Connell, J. (John), Cookson, W.O. (William), Faire, U. (Ulf) de, Vegt, F. (Femmie) de, Dei, M. (Mariano), Dimitriou, M. (Maria), Edkins, T. (Ted), Estrada Gil, K. (Karol), Evans, D.M. (David), Farrall, M. (Martin), Ferrario, F. (Franco), Ferrières, J. (Jean), Franke, L. (Lude), Frau, F. (Francesca), Gejman, P.V. (Pablo), Grallert, H. (Harald), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Hall, A. (Anne), Hall, A.S. (Alistair), Hartikainen, A.L., Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Heath, A.C. (Andrew), Hebebrand, J. (Johannes), Homuth, G. (Georg), Hu, F.B. (Frank), Hunt, S.E. (Sarah), Hyppönen, E. (Elina), Iribarren, C. (Carlos), Jacobs, K.B. (Kevin), Jansson, J.-O. (John-Olov), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Kee, F. (F.), Khaw, K-T. (Kay-Tee), Kivimaki, M. (Mika), Koenig, W. (Wolfgang), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lind, L. (Lars), Lindstrom, J. (Jaana), Liu, J. (Jianjun), Liuzzi, A. (Antonio), Lokki, M.L., Lorentzon, M. (Mattias), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Manunta, P. (Paolo), Marek, D. (Diana), März, W. (Winfried), Leach, I.M. (Irene Mateo), McKnight, B. (Barbara), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Milani, L. (Lili), Montgomery, G.W. (Grant), Mooser, V. (Vincent), Mühleisen, T.W. (Thomas), Munroe, P. (Patricia), Musk, A.W. (Arthur), Narisu, N. (Narisu), Navis, G. (Gerjan), Nicholson, G. (Ggeorge), Nohr, C. (Christian), Ong, K. (Ken), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Palotie, A. (Aarno), Peden, J. (John), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polasek, O. (Ozren), Pouta, A. (Anneli), Pramstaller, P.P. (Peter Paul), Prokopenko, I. (Inga), Pütter, C. (Carolin), Radhakrishnan, A. (Aparna), Raitakari, O. (Olli), Rendon, A. (Augusto), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Saaristo, T. (Timo), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Sanna, S. (Serena), Saramies, J. (Jouko), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Shin, S.-Y., Signorini, S. (Stefano), Sinisalo, J. (Juha), Skrobek, B. (Boris), Soranzo, N. (Nicole), Stancáková, A. (Alena), Stark, K. (Klaus), Stephens, J. (Jonathan), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stumvoll, M. (Michael), Swift, A.J. (Amy), Theodoraki, E.V. (Eirini), Thorand, B. (Barbara), Tregouet, D.-A. (David-Alexandre), Tremoli, E. (Elena), Klauw, M.M. (Melanie) van der, Meurs, J.B.J. (Joyce) van, Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Virtamo, J. (Jarmo), Vitart, V. (Veronique), Waeber, G. (Gérard), Wang, Z. (Zhaoming), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Winkelmann, B., Witteman, J.C.M. (Jacqueline), Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Amouyel, P. (Philippe), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Cupples, L.A. (Adrienne), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Eriksson, J.G. (Johan), Franks, P.W. (Paul), Froguel, P. (Philippe), Gieger, C. (Christian), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hinney, A. (Anke), Hofman, A. (Albert), Hovingh, G.K. (Kees), Hveem, K. (Kristian), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Jöckel, K.-H. (Karl-Heinz), Keinanen-Kiukaanniemi, S. (Sirkka), Kiemeney, L.A.L.M. (Bart), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Levinson, D.F. (Douglas), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Morris, A.D. (Andrew), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ouwehand, W.H. (Willem), Palmer, C. (Cameron), Penninx, B.W.J.H. (Brenda), Power, C. (Christopher), Province, M.A. (Mike), Psaty, B.M. (Bruce), Qi, L. (Lu), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Ripatti, S. (Samuli), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Snieder, H. (Harold), Sorensen, H.G., Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunian, T. (Talin), Heid, I.M. (Iris), Hunter, D. (David), Kaplan, R.C. (Robert), Karpe, F. (Fredrik), Moffatt, M.F. (Miriam), Mohlke, K.L. (Karen), O´Connell, J.R., Pawitan, Y. (Yudi), Schadt, E.E. (Eric), Schlessinger, D. (David), Steinthorsdottir, V. (Valgerdur), Strachan, D.P. (David), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Di Blasio, A.M. (Anna Maria), Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia), Meyre, D. (David), Scherag, A. (Andre), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Loos, R.J.F. (Ruth), Ingelsson, E. (Erik), Berndt, S.I. (Sonja), Gustafsson, S. (Stefan), Mägi, R. (Reedik), Ganna, A. (Andrea), Wheeler, E. (Eleanor), Feitosa, M.F. (Mary Furlan), Justice, A.E. (Anne), Monda, K.L. (Keri), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Ferreira, T. (Teresa), Gentilini, D. (Davide), Jackson, A.U. (Anne), Luan, J., Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Willer, C.J. (Cristen), Winkler, T.W. (Thomas), Wood, A.R. (Andrew), Workalemahu, T. (Tsegaselassie), Hu, Y.-J. (Yi-Juan), Lee, S.H. (Sang Hong), Liang, L. (Liming), Lin, D.Y. (Dan), Min, J. (Josine), Neale, B.M. (Benjamin), Thorleifsson, G. (Gudmar), Yang, J. (Jian), Albrecht, E. (Eva), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Heijer, M. (Martin) den, Eklund, N. (Niina), Fischer, K. (Krista), Goel, A. (Anuj), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jarick, I. (Ivonne), Johansson, A. (Åsa), Johnson, T. (Toby), Kanoni, S. (Stavroula), Kleber, M.E. (Marcus), König, I.R. (Inke), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lamina, C. (Claudia), Lecoeur, C. (Cécile), Li, G. (Guo), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Medina-Gomez, M.C. (Carolina), Müller-Nurasyid, M. (Martina), Ngwa, J.S., Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Pechlivanis, S. (Sonali), Perola, M. (Markus), Peters, M.J. (Marjolein), Preuss, M. (Michael), Rose, L.M. (Lynda), Shi, J. (Jianxin), Shungin, D. (Dmitry), Smith, A.V. (Davey), Strawbridge, R.J. (Rona), Surakka, I. (Ida), Teumer, A. (Alexander), Trip, M.D. (Mieke), Tyrer, J.P. (Jonathan), Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Waite, L. (Lindsay), Zhao, J.H. (Jing Hua), Absher, D. (Devin), Asselbergs, F.W. (Folkert), Atalay, M. (Mustafa), Attwood, A.P. (Antony), Balmforth, A.J. (Anthony), Basart, D.C.G. (Dick), Beilby, J.P. (John), Bonnycastle, L.L. (Lori), Brambilla, P. (Paolo), Bruinenberg, M. (M.), Campbell, H. (Harry), Chasman, D.I. (Daniel), Chines, P.S. (Peter), Collins, F.S. (Francis), Connell, J. (John), Cookson, W.O. (William), Faire, U. (Ulf) de, Vegt, F. (Femmie) de, Dei, M. (Mariano), Dimitriou, M. (Maria), Edkins, T. (Ted), Estrada Gil, K. (Karol), Evans, D.M. (David), Farrall, M. (Martin), Ferrario, F. (Franco), Ferrières, J. (Jean), Franke, L. (Lude), Frau, F. (Francesca), Gejman, P.V. (Pablo), Grallert, H. (Harald), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Hall, A. (Anne), Hall, A.S. (Alistair), Hartikainen, A.L., Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Heath, A.C. (Andrew), Hebebrand, J. (Johannes), Homuth, G. (Georg), Hu, F.B. (Frank), Hunt, S.E. (Sarah), Hyppönen, E. (Elina), Iribarren, C. (Carlos), Jacobs, K.B. (Kevin), Jansson, J.-O. (John-Olov), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Kee, F. (F.), Khaw, K-T. (Kay-Tee), Kivimaki, M. (Mika), Koenig, W. (Wolfgang), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lind, L. (Lars), Lindstrom, J. (Jaana), Liu, J. (Jianjun), Liuzzi, A. (Antonio), Lokki, M.L., Lorentzon, M. (Mattias), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Manunta, P. (Paolo), Marek, D. (Diana), März, W. (Winfried), Leach, I.M. (Irene Mateo), McKnight, B. (Barbara), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Milani, L. (Lili), Montgomery, G.W. (Grant), Mooser, V. (Vincent), Mühleisen, T.W. (Thomas), Munroe, P. (Patricia), Musk, A.W. (Arthur), Narisu, N. (Narisu), Navis, G. (Gerjan), Nicholson, G. (Ggeorge), Nohr, C. (Christian), Ong, K. (Ken), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Palotie, A. (Aarno), Peden, J. (John), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polasek, O. (Ozren), Pouta, A. (Anneli), Pramstaller, P.P. (Peter Paul), Prokopenko, I. (Inga), Pütter, C. (Carolin), Radhakrishnan, A. (Aparna), Raitakari, O. (Olli), Rendon, A. (Augusto), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Saaristo, T. (Timo), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Sanna, S. (Serena), Saramies, J. (Jouko), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Shin, S.-Y., Signorini, S. (Stefano), Sinisalo, J. (Juha), Skrobek, B. (Boris), Soranzo, N. (Nicole), Stancáková, A. (Alena), Stark, K. (Klaus), Stephens, J. (Jonathan), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stumvoll, M. (Michael), Swift, A.J. (Amy), Theodoraki, E.V. (Eirini), Thorand, B. (Barbara), Tregouet, D.-A. (David-Alexandre), Tremoli, E. (Elena), Klauw, M.M. (Melanie) van der, Meurs, J.B.J. (Joyce) van, Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Virtamo, J. (Jarmo), Vitart, V. (Veronique), Waeber, G. (Gérard), Wang, Z. (Zhaoming), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Winkelmann, B., Witteman, J.C.M. (Jacqueline), Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Amouyel, P. (Philippe), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Cupples, L.A. (Adrienne), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Eriksson, J.G. (Johan), Franks, P.W. (Paul), Froguel, P. (Philippe), Gieger, C. (Christian), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hinney, A. (Anke), Hofman, A. (Albert), Hovingh, G.K. (Kees), Hveem, K. (Kristian), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Jöckel, K.-H. (Karl-Heinz), Keinanen-Kiukaanniemi, S. (Sirkka), Kiemeney, L.A.L.M. (Bart), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Levinson, D.F. (Douglas), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Morris, A.D. (Andrew), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ouwehand, W.H. (Willem), Palmer, C. (Cameron), Penninx, B.W.J.H. (Brenda), Power, C. (Christopher), Province, M.A. (Mike), Psaty, B.M. (Bruce), Qi, L. (Lu), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Ripatti, S. (Samuli), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Snieder, H. (Harold), Sorensen, H.G., Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunian, T. (Talin), Heid, I.M. (Iris), Hunter, D. (David), Kaplan, R.C. (Robert), Karpe, F. (Fredrik), Moffatt, M.F. (Miriam), Mohlke, K.L. (Karen), O´Connell, J.R., Pawitan, Y. (Yudi), Schadt, E.E. (Eric), Schlessinger, D. (David), Steinthorsdottir, V. (Valgerdur), Strachan, D.P. (David), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Di Blasio, A.M. (Anna Maria), Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia), Meyre, D. (David), Scherag, A. (Andre), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Loos, R.J.F. (Ruth), and Ingelsson, E. (Erik)
Abstract: Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
Published: 2013
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39. Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations

Author: O'Seaghdha, C.M. (Conall), Wu, H. (Hongsheng), Yang, Q. (Qiong), Kapur, K. (Karen), Guessous, I. (Idris), Zuber, P. (Patrick), Köttgen, A. (Anna), Stoudmann, C. (Candice), Teumer, A. (Alexander), Kutalik, Z. (Zoltán), Mangino, M. (Massimo), Dehghan, A. (Abbas), Zhang, W. (Weihua), Eiriksdottir, G. (Gudny), Li, G. (Guo), Tanaka, T. (Toshiko), Portas, L. (Laura), Lopez, L.M. (Lorna), Hayward, C. (Caroline), Lohman, K. (Kurt), Matsuda, K. (Koichi), Padmanabhan, S. (Sandosh), Firsov, D. (Dmitri), Sorice, R., Ulivi, S. (Shelia), Brockhaus, A.C. (A. Catharina), Kleber, M.E. (Marcus), Mahajan, A. (Anubha), Ernst, F.D.J. (Florian), Gudnason, V. (Vilmundur), Launer, L.J. (Lenore), Mace, A. (Aurelien), Boerwinkle, E.A. (Eric), Arking, D.E. (Dan), Tanikawa, C. (Chizu), Nakamura, Y. (Yusuke), Brown, M.J. (Morris), Gaspoz, J.-M. (Jean-Michel), Theler, J.-M. (Jean-Marc), Siscovick, D.S. (David), Psaty, B.M. (Bruce), Bergmann, S.M. (Sven), Vollenweider, P. (Peter), Vitart, V. (Veronique), Wright, A.F. (Alan), Zemunik, T. (Tatijana), Boban, M. (Mladen), Kolcic, I. (Ivana), Navarro, P. (Pau), Brown, E.M. (Edward), Estrada Gil, K. (Karol), Ding, J. (Jingzhong), Harris, T.B. (Tamara), Bandinelli, S. (Stefania), Hernandez, D.G. (Dena), Singleton, A. (Andrew), Girotto, S., Ruggiero, D., Adamo, P. (Pio) d', Robino, A. (Antonietta), Meitinger, T. (Thomas), Meisinger, C. (Christa), Davies, G. (Gail), Starr, J.M. (John), Chambers, J.C. (John), Boehm, B.O. (Bernhard), Winkelmann, B., Huang, J. (Jian), Murgia, D. (Daniela), Wild, S.H. (Sarah), Campbell, H. (Harry), Morris, A.D. (Andrew), Franco, O.H. (Oscar), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Vol̈ker, U. (Uwe), Hannemann, M. (Mario), Biffar, R. (Reiner), Hoffmann, W. (Wolfgang), Shin, S.-Y., Lescuyer, P. (Pierre), Henry, H. (Hughes), Schurmann, C. (Claudia), Munroe, P. (Patricia), Gasparini, P. (Paolo), Pirastu, N. (Nicola), Ciullo, M., Gieger, C. (Christian), März, W. (Winfried), Lind, L. (Lars), Spector, T.D. (Timothy), Smith, A.V. (Davey), Rudan, I. (Igor), Wilson, J.F. (James), Polasek, O. (Ozren), Deary, I.J. (Ian), Pirastu, M. (Mario), Ferrucci, L. (Luigi), Liu, Y. (YongMei), Kestenbaum, B. (Bryan), Kooner, J.S. (Jaspal), Witteman, J.C.M. (Jacqueline), Nauck, M. (Matthias), Kao, W.H.L. (Wen), Wallaschofski, H. (Henri), Bonny, O. (Olivier), Fox, C. (Craig), Bochud, M. (Murielle), O'Seaghdha, C.M. (Conall), Wu, H. (Hongsheng), Yang, Q. (Qiong), Kapur, K. (Karen), Guessous, I. (Idris), Zuber, P. (Patrick), Köttgen, A. (Anna), Stoudmann, C. (Candice), Teumer, A. (Alexander), Kutalik, Z. (Zoltán), Mangino, M. (Massimo), Dehghan, A. (Abbas), Zhang, W. (Weihua), Eiriksdottir, G. (Gudny), Li, G. (Guo), Tanaka, T. (Toshiko), Portas, L. (Laura), Lopez, L.M. (Lorna), Hayward, C. (Caroline), Lohman, K. (Kurt), Matsuda, K. (Koichi), Padmanabhan, S. (Sandosh), Firsov, D. (Dmitri), Sorice, R., Ulivi, S. (Shelia), Brockhaus, A.C. (A. Catharina), Kleber, M.E. (Marcus), Mahajan, A. (Anubha), Ernst, F.D.J. (Florian), Gudnason, V. (Vilmundur), Launer, L.J. (Lenore), Mace, A. (Aurelien), Boerwinkle, E.A. (Eric), Arking, D.E. (Dan), Tanikawa, C. (Chizu), Nakamura, Y. (Yusuke), Brown, M.J. (Morris), Gaspoz, J.-M. (Jean-Michel), Theler, J.-M. (Jean-Marc), Siscovick, D.S. (David), Psaty, B.M. (Bruce), Bergmann, S.M. (Sven), Vollenweider, P. (Peter), Vitart, V. (Veronique), Wright, A.F. (Alan), Zemunik, T. (Tatijana), Boban, M. (Mladen), Kolcic, I. (Ivana), Navarro, P. (Pau), Brown, E.M. (Edward), Estrada Gil, K. (Karol), Ding, J. (Jingzhong), Harris, T.B. (Tamara), Bandinelli, S. (Stefania), Hernandez, D.G. (Dena), Singleton, A. (Andrew), Girotto, S., Ruggiero, D., Adamo, P. (Pio) d', Robino, A. (Antonietta), Meitinger, T. (Thomas), Meisinger, C. (Christa), Davies, G. (Gail), Starr, J.M. (John), Chambers, J.C. (John), Boehm, B.O. (Bernhard), Winkelmann, B., Huang, J. (Jian), Murgia, D. (Daniela), Wild, S.H. (Sarah), Campbell, H. (Harry), Morris, A.D. (Andrew), Franco, O.H. (Oscar), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Vol̈ker, U. (Uwe), Hannemann, M. (Mario), Biffar, R. (Reiner), Hoffmann, W. (Wolfgang), Shin, S.-Y., Lescuyer, P. (Pierre), Henry, H. (Hughes), Schurmann, C. (Claudia), Munroe, P. (Patricia), Gasparini, P. (Paolo), Pirastu, N. (Nicola), Ciullo, M., Gieger, C. (Christian), März, W. (Winfried), Lind, L. (Lars), Spector, T.D. (Timothy), Smith, A.V. (Davey), Rudan, I. (Igor), Wilson, J.F. (James), Polasek, O. (Ozren), Deary, I.J. (Ian), Pirastu, M. (Mario), Ferrucci, L. (Luigi), Liu, Y. (YongMei), Kestenbaum, B. (Bryan), Kooner, J.S. (Jaspal), Witteman, J.C.M. (Jacqueline), Nauck, M. (Matthias), Kao, W.H.L. (Wen), Wallaschofski, H. (Henri), Bonny, O. (Olivier), Fox, C. (Craig), and Bochud, M. (Murielle)
Abstract: Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in ≤21,679 additional individuals. Seven l
Published: 2013
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40. High bone mineral density and fracture risk in type 2 diabetes as skeletal complications of inadequate glucose control: The Rotterdam study

Author: Oei, L. (Ling), Zillikens, M.C. (Carola), Dehghan, A. (Abbas), Buitendijk, G.H.S. (Gabrielle), Castaño Betancourt, M.C. (Martha), Estrada Gil, K. (Karol), Stolk, L. (Lisette), Oei, E.H.G. (Edwin), Meurs, J.B.J. (Joyce) van, Janssen, J.A.M.J.L. (Joop), Hofman, A. (Albert), Leeuwen, J.P.T.M. (Hans) van, Witteman, J.C.M. (Jacqueline), Pols, H.A.P. (Huib), Uitterlinden, A.G. (André), Klaver, C.C.W. (Caroline), Franco, O.H. (Oscar), Rivadeneira Ramirez, F. (Fernando), Oei, L. (Ling), Zillikens, M.C. (Carola), Dehghan, A. (Abbas), Buitendijk, G.H.S. (Gabrielle), Castaño Betancourt, M.C. (Martha), Estrada Gil, K. (Karol), Stolk, L. (Lisette), Oei, E.H.G. (Edwin), Meurs, J.B.J. (Joyce) van, Janssen, J.A.M.J.L. (Joop), Hofman, A. (Albert), Leeuwen, J.P.T.M. (Hans) van, Witteman, J.C.M. (Jacqueline), Pols, H.A.P. (Huib), Uitterlinden, A.G. (André), Klaver, C.C.W. (Caroline), Franco, O.H. (Oscar), and Rivadeneira Ramirez, F. (Fernando)
Abstract: OBJECTIVE - Individuals with type 2 diabetes have increased fracture risk despite higher bone mineral density (BMD). Our aim was to examine the influence of glucose control on skeletal complications. RESEARCH DESIGN AND METHODS - Data of 4,135 participants of the Rotterdam Study, a prospective population-based cohort, were available (mean follow-up 12.2 years). At baseline, 420 participants with type 2 diabetes were classified by glucose control (according to HbA1c calculated from fructosamine), resulting in three comparison groups: adequately controlled diabetes (ACD; n = 203; HbA1c <7.5%), inadequately controlled diabetes (ICD; n = 217; HbA1c ≥7.5%), and no diabetes (n = 3,715). Models adjusted for sex, age, height, and weight (and femoral neck BMD) were used to test for differences in bone parameters and fracture risk (hazard ratio [HR] [95% CI]). RESULTS - The ICD group had 1.1-5.6% higher BMD, 4.6-5.6% thicker cortices, and -1.2 to -1.8% narrower femoral necks than ACD an dND, respectively. Participants with ICD had 47-62% higher fracture risk than individuals without diabetes (HR 1.47 [1.12-1.92]) and ACD (1.62 [1.09-2.40]), whereas those with ACD had a risk similar to those without diabetes (0.91 [0.67-1.23]). CONCLUSIONS - Poor glycemic control in type 2 diabetes is associated with fracture risk, high BMD, and thicker femoral cortices in narrower bones. We postulate that fragility in apparently "strong" bones in ICD can result from microcrack accumulation and/or cortical porosity, reflecting impaired bone repair.
Published: 2013
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41. Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropomet

Author: Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Kutalik, Z. (Zoltán), Berndt, S.I. (Sonja), Jackson, A.U. (Anne), Monda, K.L. (Keri), Kilpeläinen, T.O. (Tuomas), Esko, T. (Tõnu), Mägi, R. (Reedik), Li, S. (Shengxu), Workalemahu, T. (Tsegaselassie), Feitosa, M.F. (Mary Furlan), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Fall, M. (Magnus), Ferreira, T. (Teresa), Gustafsson, S. (Stefan), Locke, A.E. (Adam), Mathieson, I. (Iain), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Liang, L. (Liming), Steinthorsdottir, V. (Valgerdur), Thorleifsson, G. (Gudmar), Dermitzakis, E.T. (Emmanouil), Dimas, A.S. (Antigone), Karpe, F. (Fredrik), Min, J. (Josine), Nicholson, G. (Ggeorge), Clegg, D.J. (Deborah), Person, A.D. (Anthony), Krohn, J.P. (Jon), Bauer, S. (Stephanie), Buechler, C. (Christa), Eisinger, F. (François), Bonnefond, A. (Amélie), Froguel, P. (Philippe), Hottenga, J.J. (Jouke Jan), Prokopenko, I. (Inga), Waite, L. (Lindsay), Harris, T.B. (Tamara), Smith, A.V. (Davey), Shuldiner, A.R. (Alan), McArdle, W.L. (Wendy), Caulfield, M. (Mark), Munroe, P. (Patricia), Grönberg, H. (Henrik), Chen, Y.D.I. (Yii-Der Ida), Li, G. (Guo), Beckmann, J.S. (Jacques), Johnson, T. (Toby), Thorsteinsdottir, U. (Unnur), Teder-Laving, M. (Maris), Khaw, K-T. (Kay-Tee), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Oostra, B.A. (Ben), Kraja, A. (Aldi), Province, M.A. (Mike), Cupples, L.A. (Adrienne), Heard-Costa, N.L. (Nancy), Kaprio, J. (Jaakko), Ripatti, S. (Samuli), Surakka, I. (Ida), Collins, F.S. (Francis), Saramies, J. (Jouko), Tuomilehto, J. (Jaakko), Jula, A. (Antti), Salomaa, V. (Veikko), Erdmann, J. (Jeanette), Hengstenberg, C. (Christian), Loley, C. (Christina), Schunkert, H. (Heribert), Lamina, C. (Claudia), Wichmann, H.E. (Heinz Erich), Albrecht, E. (Eva), Gieger, C. (Christian), Hicks, A.A. (Andrew), Johansson, A. (Åsa), Pramstaller, P.P. (Peter Paul), Kathiresan, S. (Sekar), Speliotes, E.K. (Elizabeth), Penninx, B.W.J.H. (Brenda), Hartikainen, A.L., Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Wilson, J.F. (James), Chanock, S.J. (Stephen), Farrall, M. (Martin), Goel, A. (Anuj), Medina-Gomez, M.C. (Carolina), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Uitterlinden, A.G. (André), Hofman, A. (Albert), Zillikens, M.C. (Carola), Heijer, M. (Martin) den, Kiemeney, L.A.L.M. (Bart), Maschio, A., Hall, A.S. (Alistair), Tyrer, J.P. (Jonathan), Teumer, A. (Alexander), Völzke, H. (Henry), Kovacs, P. (Peter), Tönjes, A. (Anke), Mangino, M. (Massimo), Spector, T.D. (Timothy), Hayward, C. (Caroline), Rudan, I. (Igor), Hall, A. (Anne), Samani, N.J. (Nilesh), Attwood, A.P. (Antony), Sambrook, J.G. (Jennifer), Hung, J. (Judy), Palmer, C. (Cameron), Lokki, M.L., Sinisalo, J. (Juha), Boucher, G. (Gabrielle), Huikuri, H.V. (Heikki), Lorentzon, M. (Mattias), Ohlsson, C. (Claes), Eklund, N. (Niina), Hagen, K. (Knut), Barlassina, C. (Christina), Rivolta, C. (Carlo), Nolte, I.M. (Ilja), Snieder, H. (Harold), Klauw, M.M. (Melanie) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Gejman, P.V. (Pablo), Shi, J. (Jianxin), Jacobs, K.B. (Kevin), Wang, Z. (Zhaoming), Bakker, S.J.L. (Stephan), Leach, I.M. (Irene Mateo), Navis, G. (Gerjan), Harst, P. (Pim) van der, Martin, N.G. (Nicholas), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Yang, J. (Joanna), Chasman, D.I. (Daniel), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Lehtimäki, T. (Terho), Raitakari, O. (Olli), Absher, D. (Devin), Iribarren, C. (Carlos), Basart, D.C.G. (Dick), Hovingh, G.K. (Kees), Hyppönen, E. (Elina), Power, C. (Christopher), Beilby, J.P. (John), Hui, J. (Jennie), Jolley, G.J. (Jason), Sager, H. (Hendrik), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Kristiansson, K. (Kati), Perola, M. (Markus), Lindström, J. (Jaana), Swift, A.J. (Amy), Uusitupa, M. (Matti), Atalay, M. (Mustafa), Lakka, T.A. (Timo), Rauramaa, R. (Rainer), Bolton, J.L. (Jennifer), Fowkes, G. (Gerry), Fraser, R.M. (Ross), Price, J.F. (Jackie F.), Fischer, K. (Krista), KrjutÅkov, K. (Kaarel), Metspalu, A. (Andres), Mihailov, E. (Evelin), Langenberg, C. (Claudia), Luan, J., Ong, K.K. (Ken), Chines, P.S. (Peter), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Edkins, T. (Ted), Franks, P.W. (Paul), Hallmans, G. (Göran), Shungin, D. (Dmitry), Morris, A.D. (Andrew), Palmer, C.N.A. (Colin), Erbel, R. (Raimund), Moebus, S. (Susanne), Nöthen, M.M. (Markus), Pechlivanis, S. (Sonali), Hveem, K. (Kristian), Narisu, N. (Narisu), Hamsten, A. (Anders), Humphries, S.E. (Steve), Strawbridge, R.J. (Rona), Tremoli, E. (Elena), Grallert, H. (Harald), Thorand, B. (Barbara), Illig, T. (Thomas), Koenig, W. (Wolfgang), Müller-Nurasyid, M. (Martina), Peters, A. (Annette), Boehm, B.O. (Bernhard), Kleber, M.E. (Marcus), März, W. (Winfried), Winkelmann, B., Kuusisto, J. (Johanna), Laakso, M. (Markku), Arveiler, D. (Dominique), Cesana, G. (Giancarlo), Kuulasmaa, K. (Kari), Virtamo, J. (Jarmo), Yarnell, J.W.G. (John W.), Kuh, D. (Diana), Wong, A. (Andrew), Lind, L. (Lars), Faire, U. (Ulf) de, Gigante, B. (Bruna), Magnusson, P.K. (Patrik), Pedersen, N.L. (Nancy), Dedoussis, G.V. (George), Dimitriou, M. (Maria), Kolovou, G. (Genovefa), Kanoni, S. (Stavroula), Stirrups, K. (Kathy), Bonnycastle, L.L. (Lori), Njølstad, I. (Inger), Wilsgaard, T. (Tom), Ganna, A. (Andrea), Rehnberg, E. (Emil), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Abecasis, G.R. (Gonçalo), McCarthy, M.I. (Mark), Anderson, D. (Denise), Hirschhorn, J.N. (Joel), Qi, L. (Lu), Loos, R.J.F. (Ruth), Lindgren, C.M. (Cecilia), North, K.E. (Kari), Heid, I.M. (Iris), Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Kutalik, Z. (Zoltán), Berndt, S.I. (Sonja), Jackson, A.U. (Anne), Monda, K.L. (Keri), Kilpeläinen, T.O. (Tuomas), Esko, T. (Tõnu), Mägi, R. (Reedik), Li, S. (Shengxu), Workalemahu, T. (Tsegaselassie), Feitosa, M.F. (Mary Furlan), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Fall, M. (Magnus), Ferreira, T. (Teresa), Gustafsson, S. (Stefan), Locke, A.E. (Adam), Mathieson, I. (Iain), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Liang, L. (Liming), Steinthorsdottir, V. (Valgerdur), Thorleifsson, G. (Gudmar), Dermitzakis, E.T. (Emmanouil), Dimas, A.S. (Antigone), Karpe, F. (Fredrik), Min, J. (Josine), Nicholson, G. (Ggeorge), Clegg, D.J. (Deborah), Person, A.D. (Anthony), Krohn, J.P. (Jon), Bauer, S. (Stephanie), Buechler, C. (Christa), Eisinger, F. (François), Bonnefond, A. (Amélie), Froguel, P. (Philippe), Hottenga, J.J. (Jouke Jan), Prokopenko, I. (Inga), Waite, L. (Lindsay), Harris, T.B. (Tamara), Smith, A.V. (Davey), Shuldiner, A.R. (Alan), McArdle, W.L. (Wendy), Caulfield, M. (Mark), Munroe, P. (Patricia), Grönberg, H. (Henrik), Chen, Y.D.I. (Yii-Der Ida), Li, G. (Guo), Beckmann, J.S. (Jacques), Johnson, T. (Toby), Thorsteinsdottir, U. (Unnur), Teder-Laving, M. (Maris), Khaw, K-T. (Kay-Tee), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Oostra, B.A. (Ben), Kraja, A. (Aldi), Province, M.A. (Mike), Cupples, L.A. (Adrienne), Heard-Costa, N.L. (Nancy), Kaprio, J. (Jaakko), Ripatti, S. (Samuli), Surakka, I. (Ida), Collins, F.S. (Francis), Saramies, J. (Jouko), Tuomilehto, J. (Jaakko), Jula, A. (Antti), Salomaa, V. (Veikko), Erdmann, J. (Jeanette), Hengstenberg, C. (Christian), Loley, C. (Christina), Schunkert, H. (Heribert), Lamina, C. (Claudia), Wichmann, H.E. (Heinz Erich), Albrecht, E. (Eva), Gieger, C. (Christian), Hicks, A.A. (Andrew), Johansson, A. (Åsa), Pramstaller, P.P. (Peter Paul), Kathiresan, S. (Sekar), Speliotes, E.K. (Elizabeth), Penninx, B.W.J.H. (Brenda), Hartikainen, A.L., Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Wilson, J.F. (James), Chanock, S.J. (Stephen), Farrall, M. (Martin), Goel, A. (Anuj), Medina-Gomez, M.C. (Carolina), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Uitterlinden, A.G. (André), Hofman, A. (Albert), Zillikens, M.C. (Carola), Heijer, M. (Martin) den, Kiemeney, L.A.L.M. (Bart), Maschio, A., Hall, A.S. (Alistair), Tyrer, J.P. (Jonathan), Teumer, A. (Alexander), Völzke, H. (Henry), Kovacs, P. (Peter), Tönjes, A. (Anke), Mangino, M. (Massimo), Spector, T.D. (Timothy), Hayward, C. (Caroline), Rudan, I. (Igor), Hall, A. (Anne), Samani, N.J. (Nilesh), Attwood, A.P. (Antony), Sambrook, J.G. (Jennifer), Hung, J. (Judy), Palmer, C. (Cameron), Lokki, M.L., Sinisalo, J. (Juha), Boucher, G. (Gabrielle), Huikuri, H.V. (Heikki), Lorentzon, M. (Mattias), Ohlsson, C. (Claes), Eklund, N. (Niina), Hagen, K. (Knut), Barlassina, C. (Christina), Rivolta, C. (Carlo), Nolte, I.M. (Ilja), Snieder, H. (Harold), Klauw, M.M. (Melanie) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Gejman, P.V. (Pablo), Shi, J. (Jianxin), Jacobs, K.B. (Kevin), Wang, Z. (Zhaoming), Bakker, S.J.L. (Stephan), Leach, I.M. (Irene Mateo), Navis, G. (Gerjan), Harst, P. (Pim) van der, Martin, N.G. (Nicholas), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Yang, J. (Joanna), Chasman, D.I. (Daniel), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Lehtimäki, T. (Terho), Raitakari, O. (Olli), Absher, D. (Devin), Iribarren, C. (Carlos), Basart, D.C.G. (Dick), Hovingh, G.K. (Kees), Hyppönen, E. (Elina), Power, C. (Christopher), Beilby, J.P. (John), Hui, J. (Jennie), Jolley, G.J. (Jason), Sager, H. (Hendrik), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Kristiansson, K. (Kati), Perola, M. (Markus), Lindström, J. (Jaana), Swift, A.J. (Amy), Uusitupa, M. (Matti), Atalay, M. (Mustafa), Lakka, T.A. (Timo), Rauramaa, R. (Rainer), Bolton, J.L. (Jennifer), Fowkes, G. (Gerry), Fraser, R.M. (Ross), Price, J.F. (Jackie F.), Fischer, K. (Krista), KrjutÅkov, K. (Kaarel), Metspalu, A. (Andres), Mihailov, E. (Evelin), Langenberg, C. (Claudia), Luan, J., Ong, K.K. (Ken), Chines, P.S. (Peter), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Edkins, T. (Ted), Franks, P.W. (Paul), Hallmans, G. (Göran), Shungin, D. (Dmitry), Morris, A.D. (Andrew), Palmer, C.N.A. (Colin), Erbel, R. (Raimund), Moebus, S. (Susanne), Nöthen, M.M. (Markus), Pechlivanis, S. (Sonali), Hveem, K. (Kristian), Narisu, N. (Narisu), Hamsten, A. (Anders), Humphries, S.E. (Steve), Strawbridge, R.J. (Rona), Tremoli, E. (Elena), Grallert, H. (Harald), Thorand, B. (Barbara), Illig, T. (Thomas), Koenig, W. (Wolfgang), Müller-Nurasyid, M. (Martina), Peters, A. (Annette), Boehm, B.O. (Bernhard), Kleber, M.E. (Marcus), März, W. (Winfried), Winkelmann, B., Kuusisto, J. (Johanna), Laakso, M. (Markku), Arveiler, D. (Dominique), Cesana, G. (Giancarlo), Kuulasmaa, K. (Kari), Virtamo, J. (Jarmo), Yarnell, J.W.G. (John W.), Kuh, D. (Diana), Wong, A. (Andrew), Lind, L. (Lars), Faire, U. (Ulf) de, Gigante, B. (Bruna), Magnusson, P.K. (Patrik), Pedersen, N.L. (Nancy), Dedoussis, G.V. (George), Dimitriou, M. (Maria), Kolovou, G. (Genovefa), Kanoni, S. (Stavroula), Stirrups, K. (Kathy), Bonnycastle, L.L. (Lori), Njølstad, I. (Inger), Wilsgaard, T. (Tom), Ganna, A. (Andrea), Rehnberg, E. (Emil), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Abecasis, G.R. (Gonçalo), McCarthy, M.I. (Mark), Anderson, D. (Denise), Hirschhorn, J.N. (Joel), Qi, L. (Lu), Loos, R.J.F. (Ruth), Lindgren, C.M. (Cecilia), North, K.E. (Kari), and Heid, I.M. (Iris)
Published: 2013
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42. Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

Author: Valk, R.J.P. (Ralf) van der, Duijts, L. (Liesbeth), Timpson, N.J. (Nicholas), Salam, M.T. (Muhammad), Standl, E. (Eberhard), Curtin, J.A. (John), Genuneit, J. (Jon), Kerhof, M. (Marjan), Kreiner-Møller, E. (Eskil), Cáceres, A. (Alejandro), Gref, A. (Anna), Liang, L. (Liming), Taal, H.R. (Rob), Bouzigon, E. (Emmanuelle), Demenais, F. (Florence), Nadif, R. (Rachel), Ober, C. (Carole), Thompson, E.E. (Emma), Estrada Gil, K. (Karol), Hofman, A. (Albert), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Li, X. (Xia), Eckel, R. (Renate), Berhane, K. (Kiros), Gauderman, W.J. (W James), Granell, R. (Raquel), Evans, D.M. (David), St Pourcain, B. (Beate), McArdle, W.L. (Wendy), Kemp, J.P. (John), Smith, A.V. (Davey), Tiesler, C. (Carla), Flexeder, C. (Claudia), Simpson, A. (Angela), Murray, C.S. (Clare), Fuchs, O. (Oliver), Postma, D.S. (Dirkje), Bønnelykke, K. (Klaus), Torrent, M. (Maties), Andersson, M. (Martin), Sleiman, P.M.A. (Patrick), Hakonarson, H. (Hakon), Cookson, W.O. (William), Moffatt, M.F. (Miriam), Paternoster, L. (Lavinia), Melén, E. (Erik), Sunyer, J. (Jordi), Bisgaard, H. (Hans), Koppelman, G.H. (Gerard), Ege, M. (Markus), Custovic, A. (Adnan), Heinrich, J. (Joachim), Gilliland, D.G. (Gary), Henderson, A.J. (Alexander), Jaddoe, V.W.V. (Vincent), Jongste, J.C. (Johan) de, Valk, R.J.P. (Ralf) van der, Duijts, L. (Liesbeth), Timpson, N.J. (Nicholas), Salam, M.T. (Muhammad), Standl, E. (Eberhard), Curtin, J.A. (John), Genuneit, J. (Jon), Kerhof, M. (Marjan), Kreiner-Møller, E. (Eskil), Cáceres, A. (Alejandro), Gref, A. (Anna), Liang, L. (Liming), Taal, H.R. (Rob), Bouzigon, E. (Emmanuelle), Demenais, F. (Florence), Nadif, R. (Rachel), Ober, C. (Carole), Thompson, E.E. (Emma), Estrada Gil, K. (Karol), Hofman, A. (Albert), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Li, X. (Xia), Eckel, R. (Renate), Berhane, K. (Kiros), Gauderman, W.J. (W James), Granell, R. (Raquel), Evans, D.M. (David), St Pourcain, B. (Beate), McArdle, W.L. (Wendy), Kemp, J.P. (John), Smith, A.V. (Davey), Tiesler, C. (Carla), Flexeder, C. (Claudia), Simpson, A. (Angela), Murray, C.S. (Clare), Fuchs, O. (Oliver), Postma, D.S. (Dirkje), Bønnelykke, K. (Klaus), Torrent, M. (Maties), Andersson, M. (Martin), Sleiman, P.M.A. (Patrick), Hakonarson, H. (Hakon), Cookson, W.O. (William), Moffatt, M.F. (Miriam), Paternoster, L. (Lavinia), Melén, E. (Erik), Sunyer, J. (Jordi), Bisgaard, H. (Hans), Koppelman, G.H. (Gerard), Ege, M. (Markus), Custovic, A. (Adnan), Heinrich, J. (Joachim), Gilliland, D.G. (Gary), Henderson, A.J. (Alexander), Jaddoe, V.W.V. (Vincent), and Jongste, J.C. (Johan) de
Abstract: Background: The fraction of exhaled nitric oxide (Feno) value is a biomarker of eosinophilic airway inflammation and is associated with childhood asthma. Identification of common genetic variants associated with childhood Feno values might help to define biological mechanisms related to specific asthma phenotypes. Objective: We sought to identify the genetic variants associated with childhood Feno values and their relation with asthma. Methods: Feno values were measured in children age 5 to 15 years. In 14 genome-wide association studies (N = 8,858), we examined the associations of approximately 2.5 million single nucleotide polymorphisms (SNPs) with Feno values. Subsequently, we assessed whether significant SNPs were expression quantitative trait loci in genome-wide expression data sets of lymphoblastoid cell lines (n = 1,830) and were related to asthma in a previously published genome-wide association data set (cases, n = 10,365; control subjects: n = 16,110). Results: We identified 3 SNPs associated with Feno values: rs3751972 in LYR motif containing 9 (LYRM9; P = 1.97 × 10-10) and rs944722 in inducible nitric oxide synthase 2 (NOS2; P = 1.28 × 10-9), both of which are located at 17q11.2-q12, and rs8069176 near gasdermin B (GSDMB; P = 1.88 × 10-8) at 17q12-q21. We found a cis expression quantitative trait locus for the transcript soluble galactoside-binding lectin 9 (LGALS9) that is in linkage disequilibrium with rs944722. rs8069176 was associated with GSDMB and ORM1-like 3 (ORMDL3) expression. rs8069176 at 17q12-q21, but not rs3751972 and rs944722 at 17q11.2-q12, were associated with physician-diagnosed asthma. Conclusion: This study identified 3 variants associated with Feno values, explaining 0.95% of the variance. Identification of functional SNPs and haplotypes in these regio
Published: 2013
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43. Association between bone mineral density and type 2 diabetes mellitus: A meta-Analysis of observational studies

Author: Ma, L. (Libin), Oei, L. (Ling), Jiang, L. (Lindi), Estrada Gil, K. (Karol), Chen, H. (Huiyong), Wang, Z. (Zhen), Yu, Q. (Qingbao), Zillikens, M.C. (Carola), Gao, J. (Jian), Rivadeneira Ramirez, F. (Fernando), Ma, L. (Libin), Oei, L. (Ling), Jiang, L. (Lindi), Estrada Gil, K. (Karol), Chen, H. (Huiyong), Wang, Z. (Zhen), Yu, Q. (Qingbao), Zillikens, M.C. (Carola), Gao, J. (Jian), and Rivadeneira Ramirez, F. (Fernando)
Abstract: Type 2 diabetes mellitus (T2DM) influences bone metabolism, but the relation of T2DM with bone mineral density (BMD) remains inconsistent across studies. The objective of this study was to perform a meta-Analysis and meta-regression of the literature to estimate the difference in BMD (g/cm2) between diabetic and non-diabetic populations, and to investigate potential underlying mechanisms. A literature search was performed in PubMed and Ovid extracting data from articles prior to May 2010. Eligible studies were those where the association between T2DM and BMD measured by dual energy X-ray absorptiometry was evaluated using a cross-sectional, cohort or case-control design, including both healthy controls and subjects with T2DM. The analysis was done on 15 observational studies (3,437 diabetics and 19,139 controls). Meta-Analysis showed that BMD in diabetics was significantly higher, with pooled mean differences of 0.04 (95% CI: 0.02, 0.05) at the femoral neck, 0.06 (95% CI: 0.04, 0.08) at the hip and 0.06 (95% CI: 0.04, 0.07) at the spine. The differences for forearm BMD were not significantly different between diabetics and non-diabetics. Sex-stratified analyses showed similar results in both genders. Substantial heterogeneity was found to originate from differences in study design and possibly diabetes definition. Also, by applying meta-regression we could establish that younger age, male gender, higher body mass index and higher HbA1C were positively associated with higher BMD levels in diabetic individuals. We conclude that individuals with T2DM from both genders have higher BMD levels, but that multiple factors influence BMD in individuals with T2DM.
Published: 2012
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44. Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus

Author: Medina-Gomez, M.C. (Carolina), Kemp, J.P. (John), Estrada Gil, K. (Karol), Eriksson, J. (Joel), Idzenga, T. (Tim), Reppe, S. (Sjur), Evans, D.M. (David), Heppe, D.H.M. (Denise), Vandenput, L. (Liesbeth), Herrera, L. (Lizbeth), Ring, S.M. (Susan), Kruithof, C.J. (Claudia), Timpson, N.J. (Nicholas), Zillikens, M.C. (Carola), Olstad, O.K. (Ole), Zheng, H.-F. (Hou-Feng), Richards, J.B. (Brent), St Pourcain, B. (Beate), Hofman, A. (Albert), Jaddoe, V.W.V. (Vincent), Smith, A.V. (Davey), Lorentzon, M. (Mattias), Gautvik, K.M. (Kaare), Uitterlinden, A.G. (André), Brommage, R. (Robert), Ohlsson, C. (Claes), Tobias, J.H. (Jon), Rivadeneira Ramirez, F. (Fernando), Medina-Gomez, M.C. (Carolina), Kemp, J.P. (John), Estrada Gil, K. (Karol), Eriksson, J. (Joel), Idzenga, T. (Tim), Reppe, S. (Sjur), Evans, D.M. (David), Heppe, D.H.M. (Denise), Vandenput, L. (Liesbeth), Herrera, L. (Lizbeth), Ring, S.M. (Susan), Kruithof, C.J. (Claudia), Timpson, N.J. (Nicholas), Zillikens, M.C. (Carola), Olstad, O.K. (Ole), Zheng, H.-F. (Hou-Feng), Richards, J.B. (Brent), St Pourcain, B. (Beate), Hofman, A. (Albert), Jaddoe, V.W.V. (Vincent), Smith, A.V. (Davey), Lorentzon, M. (Mattias), Gautvik, K.M. (Kaare), Uitterlinden, A.G. (André), Brommage, R. (Robert), Ohlsson, C. (Claes), Tobias, J.H. (Jon), and Rivadeneira Ramirez, F. (Fernando)
Abstract: To identify genetic loci influencing bone accrual, we performed a genome-wide association scan for total-body bone mineral density (TB-BMD) variation in 2,660 children of different ethnicities. We discovered variants in 7q31.31 associated with BMD measurements, with the lowest P = 4.1×10-11 observed for rs917727 with minor allele frequency of 0.37. We sought replication for all SNPs located ±500 kb from rs917727 in 11,052 additional individuals from five independent studies including children and adults, together with de novo genotyping of rs3801387 (in perfect linkage disequilibrium (LD) with rs917727) in 1,014 mothers of children from the discovery cohort. The top signal mapping in the surroundings of WNT16 was replicated across studies with a meta-analysis P = 2.6×10-31 and an effect size explaining between 0.6%-1.8% of TB-BMD variance. Conditional analyses on this signal revealed a secondary signal for total body BMD (P = 1.42×10-10) for rs4609139 and mapping to C7orf58. We al
Published: 2012
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45. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Author: Estrada Gil, K. (Karol), Styrkarsdottir, U. (Unnur), Evangelou, E. (Evangelos), Hsu, Y.-H. (Yi-Hsiang), Duncan, E.L. (Emma), Ntzani, E.E. (Evangelia), Oei, L. (Ling), Albagha, O.M.E. (Omar M.), Amin, N. (Najaf), Kemp, J.P. (John), Koller, D.L. (Daniel), Li, G. (Guo), Liu, C.-T. (Ching-Ti), Minster, R.L. (Ryan), Moayyeri, A. (Alireza), Vandenput, L. (Liesbeth), Willner, D. (Dana), Xiao, S.-M. (Su-Mei), Yerges-Armstrong, L.M. (Laura), Zheng, H.-F. (Hou-Feng), Alonso, N. (Nerea), Eriksson, J. (Joel), Kammerer, C.M. (Candace), Kaptoge, S. (Stephen), Leo, P.J. (Paul), Thorleifsson, G. (Gudmar), Wilson, S.G. (Scott), Wilson, J.F. (James), Aalto, V. (Ville), Alen, T.A. (Theo) van, Aragaki, A.K. (Aaron), Aspelund, T. (Thor), Center, J.R. (Jacqueline), Dailiana, Z. (Zoe), Duggan, C., Garcia, M. (Melissa), Garcia-Giralt, N. (Natàlia), Giroux, S. (Sylvie), Hallmans, G. (Göran), Hocking, L.J. (Lynne), Husted, L.B. (Lise Bjerre), Jameson, K. (Karen), Khusainova, R. (Rita), Kim, G.S. (Ghi Su), Kooperberg, C. (Charles), Koromila, T. (Theodora), Kruk, M. (Marcin), Laaksonen, M. (Marika), LaCroix, A.Z. (Andrea), Lee, S.U. (Seung), Leung, P.C. (Ping), Lewis, J.R. (Joshua), Masi, L. (Laura), Mencej-Bedrac, S. (Simona), Nguyen, T.V. (Tuan), Nogues, X. (Xavier), Patel, M.S. (Millan), Prezelj, J. (Janez), Rose, L.M. (Lynda), Scollen, S. (Serena), Siggeirsdottir, K. (Kristin), Smith, A.V. (Davey), Svensson, O. (Olle), Trompet, S. (Stella), Trummer, O. (Olivia), Schoor, N.M. (Natasja) van, Woo, M.M. (Margaret M.), Zhu, K. (Kun), Balcells, S. (Susana), Brandi, M.L., Buckley, B.M. (Brendan M.), Cheng, S. (Sulin), Christiansen, C., Cooper, C. (Charles), Dedoussis, G.V. (George), Ford, I. (Ian), Frost, M. (Morten), Goltzman, D. (David), González-Macías, J. (Jesús), Kähönen, M. (Mika), Karlsson, M. (Magnus), Khusnutdinova, E.K. (Elza), Koh, J.-M. (Jung-Min), Kollia, P. (Panagoula), Langdahl, B.L. (Bente), Leslie, W.D. (William), Lips, P. (Paul), Ljunggren, O. (Östen), Lorenc, R. (Roman), Marc, J. (Janja), Mellström, D. (Dan), Obermayer-Pietsch, B. (Barbara), Olmos, D. (David), Pettersson-Kymmer, U. (Ulrika), Reid, D.M. (David), Riancho, J.A. (José), Ridker, P.M. (Paul), Rousseau, M.F. (Francois), Slagboom, P.E. (Eline), Tang, N.L.S. (Nelson L.), Urreizti, R. (Roser), Van Hul, W. (Wim), Viikari, J. (Jorma), Zarrabeitia, M.T. (María), Aulchenko, Y.S. (Yurii), Castaño Betancourt, M.C. (Martha), Grundberg, E. (Elin), Herrera, L. (Lizbeth), Ingvarsson, T. (Torvaldur), Johannsdottir, H. (Hrefna), Kwan, T. (Tony), Li, R. (Rui), Luben, R.N. (Robert), Medina-Gomez, M.C. (Carolina), Palsson, S.T. (Stefan), Reppe, S. (Sjur), Rotter, J.I. (Jerome), Sigurdsson, G. (Gunnar), Meurs, J.B.J. (Joyce) van, Verlaan, D.J. (Dominique), Williams, F.M. (Frances), Wood, A.R. (Andrew), Zhou, Y. (Yanhua), Gautvik, K.M. (Kaare), Pastinen, T. (Tomi), Raychaudhuri, S. (Soumya), Cauley, J.A. (Jane), Chasman, D.I. (Daniel), Clark, G.R. (Graeme), Cummings, S., Danoy, P. (Patrick), Dennison, E.M. (Elaine), Eastell, R. (Richard), Eisman, J.A. (John), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Jackson, R.D. (Rebecca), Jones, G. (Graeme), Jukema, J.W. (Jan Wouter), Khaw, K-T. (Kay-Tee), Lehtimäki, T. (Terho), Liu, Y. (YongMei), Lorentzon, M. (Mattias), McCloskey, E.V. (Eugene), Mitchell, B.D. (Braxton), Nandakumar, K. (Kannabiran), Nicholson, G.C. (Geoffrey), Oostra, B.A. (Ben), Peacock, M. (Munro), Pols, H.A.P. (Huib), Prince, R.L. (Richard), Raitakari, O. (Olli), Reid, I.R. (Ian), Robbins, J. (John), Sambrook, P.N. (Philip), Sham, P.C. (Pak), Shuldiner, A.R. (Alan), Tylavsky, F.A. (Frances), Duijn, C.M. (Cornelia) van, Wareham, N.J. (Nick), Cupples, L.A. (Adrienne), Econs, M.J. (Michael), Evans, D.M. (David), Harris, T.B. (Tamara), Kung, A.W.C. (Annie), Psaty, B.M. (Bruce), Reeve, J. (Jonathan), Spector, T.D. (Timothy), Streeten, E.A. (Elizabeth), Zillikens, M.C. (Carola), Thorsteinsdottir, U. (Unnur), Ohlsson, C. (Claes), Karasik, D. (David), Richards, J.B. (Brent), Brown, M.A. (Matthew), Zwart, J-A. (John-Anker), Uitterlinden, A.G. (André), Ralston, S.H. (Stuart), Ioannidis, J.P.A. (John), Kiel, D.P. (Douglas), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Styrkarsdottir, U. (Unnur), Evangelou, E. (Evangelos), Hsu, Y.-H. (Yi-Hsiang), Duncan, E.L. (Emma), Ntzani, E.E. (Evangelia), Oei, L. (Ling), Albagha, O.M.E. (Omar M.), Amin, N. (Najaf), Kemp, J.P. (John), Koller, D.L. (Daniel), Li, G. (Guo), Liu, C.-T. (Ching-Ti), Minster, R.L. (Ryan), Moayyeri, A. (Alireza), Vandenput, L. (Liesbeth), Willner, D. (Dana), Xiao, S.-M. (Su-Mei), Yerges-Armstrong, L.M. (Laura), Zheng, H.-F. (Hou-Feng), Alonso, N. (Nerea), Eriksson, J. (Joel), Kammerer, C.M. (Candace), Kaptoge, S. (Stephen), Leo, P.J. (Paul), Thorleifsson, G. (Gudmar), Wilson, S.G. (Scott), Wilson, J.F. (James), Aalto, V. (Ville), Alen, T.A. (Theo) van, Aragaki, A.K. (Aaron), Aspelund, T. (Thor), Center, J.R. (Jacqueline), Dailiana, Z. (Zoe), Duggan, C., Garcia, M. (Melissa), Garcia-Giralt, N. (Natàlia), Giroux, S. (Sylvie), Hallmans, G. (Göran), Hocking, L.J. (Lynne), Husted, L.B. (Lise Bjerre), Jameson, K. (Karen), Khusainova, R. (Rita), Kim, G.S. (Ghi Su), Kooperberg, C. (Charles), Koromila, T. (Theodora), Kruk, M. (Marcin), Laaksonen, M. (Marika), LaCroix, A.Z. (Andrea), Lee, S.U. (Seung), Leung, P.C. (Ping), Lewis, J.R. (Joshua), Masi, L. (Laura), Mencej-Bedrac, S. (Simona), Nguyen, T.V. (Tuan), Nogues, X. (Xavier), Patel, M.S. (Millan), Prezelj, J. (Janez), Rose, L.M. (Lynda), Scollen, S. (Serena), Siggeirsdottir, K. (Kristin), Smith, A.V. (Davey), Svensson, O. (Olle), Trompet, S. (Stella), Trummer, O. (Olivia), Schoor, N.M. (Natasja) van, Woo, M.M. (Margaret M.), Zhu, K. (Kun), Balcells, S. (Susana), Brandi, M.L., Buckley, B.M. (Brendan M.), Cheng, S. (Sulin), Christiansen, C., Cooper, C. (Charles), Dedoussis, G.V. (George), Ford, I. (Ian), Frost, M. (Morten), Goltzman, D. (David), González-Macías, J. (Jesús), Kähönen, M. (Mika), Karlsson, M. (Magnus), Khusnutdinova, E.K. (Elza), Koh, J.-M. (Jung-Min), Kollia, P. (Panagoula), Langdahl, B.L. (Bente), Leslie, W.D. (William), Lips, P. (Paul), Ljunggren, O. (Östen), Lorenc, R. (Roman), Marc, J. (Janja), Mellström, D. (Dan), Obermayer-Pietsch, B. (Barbara), Olmos, D. (David), Pettersson-Kymmer, U. (Ulrika), Reid, D.M. (David), Riancho, J.A. (José), Ridker, P.M. (Paul), Rousseau, M.F. (Francois), Slagboom, P.E. (Eline), Tang, N.L.S. (Nelson L.), Urreizti, R. (Roser), Van Hul, W. (Wim), Viikari, J. (Jorma), Zarrabeitia, M.T. (María), Aulchenko, Y.S. (Yurii), Castaño Betancourt, M.C. (Martha), Grundberg, E. (Elin), Herrera, L. (Lizbeth), Ingvarsson, T. (Torvaldur), Johannsdottir, H. (Hrefna), Kwan, T. (Tony), Li, R. (Rui), Luben, R.N. (Robert), Medina-Gomez, M.C. (Carolina), Palsson, S.T. (Stefan), Reppe, S. (Sjur), Rotter, J.I. (Jerome), Sigurdsson, G. (Gunnar), Meurs, J.B.J. (Joyce) van, Verlaan, D.J. (Dominique), Williams, F.M. (Frances), Wood, A.R. (Andrew), Zhou, Y. (Yanhua), Gautvik, K.M. (Kaare), Pastinen, T. (Tomi), Raychaudhuri, S. (Soumya), Cauley, J.A. (Jane), Chasman, D.I. (Daniel), Clark, G.R. (Graeme), Cummings, S., Danoy, P. (Patrick), Dennison, E.M. (Elaine), Eastell, R. (Richard), Eisman, J.A. (John), Gudnason, V. (Vilmundur), Hofman, A. (Albert), Jackson, R.D. (Rebecca), Jones, G. (Graeme), Jukema, J.W. (Jan Wouter), Khaw, K-T. (Kay-Tee), Lehtimäki, T. (Terho), Liu, Y. (YongMei), Lorentzon, M. (Mattias), McCloskey, E.V. (Eugene), Mitchell, B.D. (Braxton), Nandakumar, K. (Kannabiran), Nicholson, G.C. (Geoffrey), Oostra, B.A. (Ben), Peacock, M. (Munro), Pols, H.A.P. (Huib), Prince, R.L. (Richard), Raitakari, O. (Olli), Reid, I.R. (Ian), Robbins, J. (John), Sambrook, P.N. (Philip), Sham, P.C. (Pak), Shuldiner, A.R. (Alan), Tylavsky, F.A. (Frances), Duijn, C.M. (Cornelia) van, Wareham, N.J. (Nick), Cupples, L.A. (Adrienne), Econs, M.J. (Michael), Evans, D.M. (David), Harris, T.B. (Tamara), Kung, A.W.C. (Annie), Psaty, B.M. (Bruce), Reeve, J. (Jonathan), Spector, T.D. (Timothy), Streeten, E.A. (Elizabeth), Zillikens, M.C. (Carola), Thorsteinsdottir, U. (Unnur), Ohlsson, C. (Claes), Karasik, D. (David), Richards, J.B. (Brent), Brown, M.A. (Matthew), Zwart, J-A. (John-Anker), Uitterlinden, A.G. (André), Ralston, S.H. (Stuart), Ioannidis, J.P.A. (John), Kiel, D.P. (Douglas), and Rivadeneira Ramirez, F. (Fernando)
Abstract: Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10 -8). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10 -4, Bonferroni corrected), of which six reached P < 5 × 10 -8, including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
Published: 2012
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46. Dissection of the Complex Genetic Architecture of Human Stature and Osteoporosis

Author: Estrada Gil, K. (Karol) and Estrada Gil, K. (Karol)
Abstract: Osteoporosis is a common complex disease mostly characterized by decreased bone mineral density (BMD). In this thesis we show that hundreds of variants affect adult height and it is the same case for many other complex traits such as bone mineral density. We have applied the novel hypothesis-free approach of Genome-wide Association Study (GWAS) to identify those loci harboring at least one variant affecting these osteoporosis-related traits.
Published: 2012

47. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS

Author: Diekstra, F.P. (Frank), Saris, C.G.J. (Christiaan), Rheenen, W. (Wouter) van, Franke, L. (Lude), Jansen, R.C. (Ritsert), Es, M.A. (Michael) van, Estrada Gil, K. (Karol), Vught, P.W.J. (Paul) van, Blauw, H.M. (Hylke), Groen, E.J.N. (Ewout), Horvath, S. (Steve), Rivadeneira Ramirez, F. (Fernando), Hofman, A. (Albert), Uitterlinden, A.G. (André), Robberecht, W. (Wim), Andersen, P.M. (Peter), Melki, J. (Judith), Meininger, V. (Vincent), Hardiman, O. (Orla), Landers, J.E. (John), Brown, R.H. (Robert), Shatunov, A. (Aleksey), Shaw, C.E. (Christopher), Leigh, P.N. (Nigel), Al-Chalabi, A. (Ammar), Ophoff, R.A. (Roel), Berg, L.H. (Leonard) van den, Veldink, J.H. (Jan), Diekstra, F.P. (Frank), Saris, C.G.J. (Christiaan), Rheenen, W. (Wouter) van, Franke, L. (Lude), Jansen, R.C. (Ritsert), Es, M.A. (Michael) van, Estrada Gil, K. (Karol), Vught, P.W.J. (Paul) van, Blauw, H.M. (Hylke), Groen, E.J.N. (Ewout), Horvath, S. (Steve), Rivadeneira Ramirez, F. (Fernando), Hofman, A. (Albert), Uitterlinden, A.G. (André), Robberecht, W. (Wim), Andersen, P.M. (Peter), Melki, J. (Judith), Meininger, V. (Vincent), Hardiman, O. (Orla), Landers, J.E. (John), Brown, R.H. (Robert), Shatunov, A. (Aleksey), Shaw, C.E. (Christopher), Leigh, P.N. (Nigel), Al-Chalabi, A. (Ammar), Ophoff, R.A. (Roel), Berg, L.H. (Leonard) van den, and Veldink, J.H. (Jan)
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS) have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic variants associated with complex traits are more likely to be eQTLs than frequency-matched variants from GWAS platforms, we conducted a two-stage genome-wide screening for eQTLs associated with ALS. In addition, we applied an eQTL analysis to finemap association loci. Expression profiles using peripheral blood of 323 sporadic ALS patients and 413 controls were mapped to genome-wide genotyping data. Subsequently, data from a two-stage GWAS (3,568 patients and 10,163 controls) were used to prioritize eQTLs identified in the first stage (162 ALS, 207 controls). These prioritized eQTLs were carried
Published: 2012
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48. Large common deletions associate with mortality at old age

Author: Kuningas, M. (Maris), Estrada Gil, K. (Karol), Hsu, Y.-H. (Yi-Hsiang), Nandakumar, K. (Kannabiran), Uitterlinden, A.G. (André), Lunetta, K.L. (Kathryn), Tikka-Kleemola, P. (Päivi), Karasik, D. (David), Hofman, A. (Albert), Murabito, J. (Joanne), Rivadeneira Ramirez, F. (Fernando), Kiel, D.P. (Douglas), Tiemeier, H.W. (Henning), Kuningas, M. (Maris), Estrada Gil, K. (Karol), Hsu, Y.-H. (Yi-Hsiang), Nandakumar, K. (Kannabiran), Uitterlinden, A.G. (André), Lunetta, K.L. (Kathryn), Tikka-Kleemola, P. (Päivi), Karasik, D. (David), Hofman, A. (Albert), Murabito, J. (Joanne), Rivadeneira Ramirez, F. (Fernando), Kiel, D.P. (Douglas), and Tiemeier, H.W. (Henning)
Abstract: Copy-number variants (CNVs) are a source of genetic variation that increasingly are associated with human disease. However, the role of CNVs in human lifespan is to date unknown. To identify CNVs that influence mortality at old age, we analyzed genome-wide CNV data in 5178 participants of Rotterdam Study (RS1) and positive findings were evaluated in 1714 participants of the second cohort of the Rotterdam Study (RS2) and in 4550 participants of Framingham Heart Study (FHS). First, we assessed the total burden of rare (frequency <1%) and common (frequency >1%) CNVs for association with mortality during follow-up. These analyses were repeated by stratifying CNVs by type and size. Secondly, we assessed individual comm
Published: 2011
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49. Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

Author: Duncan, E.L. (Emma), Danoy, P. (Patrick), Kemp, J.P. (John), Leo, P.J. (Paul), McCloskey, E.V. (Eugene), Nicholson, G.C. (Geoffrey), Eastell, R. (Richard), Prince, R.L. (Richard), Eisman, J.A. (John), Jones, G. (Graeme), Sambrook, P.N. (Philip), Reid, I.R. (Ian), Dennison, E.M. (Elaine), Wark, J. (John), Richards, J.B. (Brent), Uitterlinden, A.G. (André), Spector, T.D. (Timothy), Esapa, C. (Chris), Cox, R.D. (Roger), Brown, S.D.M. (Steve), Thakker, R.V. (Rajesh), Addison, K.A. (Kathryn), Bradbury, L.A. (Linda), Center, J.R. (Jacqueline), Cooper, C. (Cyrus), Cremin, C. (Catherine), Estrada Gil, K. (Karol), Felsenberg, D. (Dieter), Glüer, C.-C. (Claus-), Hadler, J. (Johanna), Henry, M.J. (Margaret), Hofman, A. (Albert), Kotowicz, M.A. (Mark), Makovey, J. (Joanna), Nguyen, S.C. (Sing), Pasco, J.A. (Julie), Pryce, K. (Karena), Rivadeneira Ramirez, F. (Fernando), Roux, C. (Christian), Stefansson, K. (Kari), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Tichawangana, R. (Rumbidzai), Evans, D.M. (David), Duncan, E.L. (Emma), Danoy, P. (Patrick), Kemp, J.P. (John), Leo, P.J. (Paul), McCloskey, E.V. (Eugene), Nicholson, G.C. (Geoffrey), Eastell, R. (Richard), Prince, R.L. (Richard), Eisman, J.A. (John), Jones, G. (Graeme), Sambrook, P.N. (Philip), Reid, I.R. (Ian), Dennison, E.M. (Elaine), Wark, J. (John), Richards, J.B. (Brent), Uitterlinden, A.G. (André), Spector, T.D. (Timothy), Esapa, C. (Chris), Cox, R.D. (Roger), Brown, S.D.M. (Steve), Thakker, R.V. (Rajesh), Addison, K.A. (Kathryn), Bradbury, L.A. (Linda), Center, J.R. (Jacqueline), Cooper, C. (Cyrus), Cremin, C. (Catherine), Estrada Gil, K. (Karol), Felsenberg, D. (Dieter), Glüer, C.-C. (Claus-), Hadler, J. (Johanna), Henry, M.J. (Margaret), Hofman, A. (Albert), Kotowicz, M.A. (Mark), Makovey, J. (Joanna), Nguyen, S.C. (Sing), Pasco, J.A. (Julie), Pryce, K. (Karena), Rivadeneira Ramirez, F. (Fernando), Roux, C. (Christian), Stefansson, K. (Kari), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Tichawangana, R. (Rumbidzai), and Evans, D.M. (David)
Abstract: Osteoporotic fracture is a major cause of morbidity and mortality worldwide. Low bone mineral density (BMD) is a major predisposing factor to fracture and is known to be highly heritable. Site-, gender-, and age-specific genetic effects on BMD are thought to be significant, but have largely not been considered in the design of genome-wide association studies (GWAS) of BMD to date. We report here a GWAS using a novel study design focusing on women of a specific age (postmenopausal women, age 55-85 years), with either extreme high or low hip BMD (age- and gender-adjusted BMD z-scores of +1.5 to +4.0, n = 1055, or -4.0 to -1.5, n = 900), with replication in cohorts of women drawn from the general population (n = 20,898). The study replicates 21 of 26 known BMD-associated genes. Additionally, we report suggestive association of a further six new genetic associations in or around the genes CLCN7, GALNT3, IBSP, LTBP3, RSPO3, and SOX4, with replication in two independent datasets. A novel mouse model with a loss-of-function mutation in GALNT3 is also reported, which has high bone mass, supporting the involvement of this gene in BMD determination. In addition to identifying further genes associated with BMD, this study confirms the efficiency of extreme-truncate selection designs for quantitative trait association studies.
Published: 2011
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50. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Author: Kilpeläinen, T.O. (Tuomas), Zillikens, M.C. (Carola), Stancáková, A. (Alena), Finucane, F.M. (Francis), Ried, J.S. (Janina), Langenberg, C. (Claudia), Zhang, W. (Weihua), Beckmann, J.S. (Jacques), Luan, J., Vandenput, L. (Liesbeth), Styrkarsdottir, U. (Unnur), Zhou, Y. (Yanhua), Smith, A.V. (Albert Vernon), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Vedantam, S. (Sailaja), Shin, S.-Y., Haritunians, T. (Talin), Fu, M. (Mao), Feitosa, M.F. (Mary Furlan), Kumari, M. (Meena), Halldorsson, B.V. (Bjarni), Tikkanen, E. (Emmi), Mangino, M. (Massimo), Hayward, C. (Caroline), Song, C. (Ci), Arnold, A.M. (Alice), Oostra, B.A. (Ben), Campbell, H. (Harry), Cupples, L.A. (Adrienne), Davis, K.E. (Kathryn), Döring, A. (Angela), Eiriksdottir, G. (Gudny), Estrada Gil, K. (Karol), Fernández-Real, J.M., Garcia, M. (Melissa), Gieger, C. (Christian), Glazer, N.L. (Nicole), Guiducci, C. (Candace), Hofman, A. (Albert), Humphries, S.E. (Steve), Isomaa, B. (Bo), Jacobs, L.C. (Leonie), Jula, A. (Antti), Karasik, D. (David), Karlsson, M.K. (Magnus), Khaw, K-T. (Kay-Tee), Kim, L.J. (Lauren), Kivimaki, M. (Mika), Klopp, N. (Norman), Kuhnel, B. (Brigitte), Kuusisto, J. (Johanna), Liu, Y. (YongMei), Ljunggren, Ö., Lorentzon, M. (Mattias), Luben, R.N. (Robert), McKnight, B. (Barbara), Mellström, D. (Dan), Mitchell, B.D. (Braxton), Mooser, V. (Vincent), Moreno, J.M., Männistö, S. (Satu), O'Connell, J.R. (Jeffery), Pascoe, L. (Laura), Peltonen, L. (Leena Johanna), Peral, B. (Belén), Perola, M. (Markus), Psaty, B.M. (Bruce), Salomaa, V. (Veikko), Savage, D.B. (David), Semple, R.K. (Robert), Skaric-Juric, T. (Tatjana), Sigurdsson, G. (Gunnar), Spector, T.D. (Timothy), Syvänen, A.-C., Talmud, P.J. (Philippa), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Uitterlinden, A.G. (André), Tikka-Kleemola, P. (Päivi), Vidal-Puig, A. (Antonio), Wild, S.H. (Sarah), Wright, A.F. (Alan), Clegg, D.J. (Deborah), Schadt, E.E. (Eric), Wilson, J.F. (James), Rudan, I. (Igor), Ripatti, S. (Samuli), Borecki, I.B. (Ingrid), Shuldiner, A.R. (Alan), Ingelsson, E. (Erik), Jansson, J.O., Kaplan, R.C. (Robert), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Groop, L. (Leif), Kiel, D.P. (Douglas), Rivadeneira Ramirez, F. (Fernando), Walker, M. (Mark), Barroso, I.E. (Inês), Vollenweider, P. (Peter), Waeber, G. (Gérard), Chambers, J.C. (John), Kooner, J.S. (Jaspal), Soranzo, N. (Nicole), Hirschhorn, J.N. (Joel), Stefansson, K. (Kari), Wichmann, H.E. (Heinz Erich), Ohlsson, C. (Claes), O'Rahilly, S. (Stephen), Wareham, N.J. (Nick), Speliotes, E.K. (Elizabeth), Fox, C.S. (Caroline), Laakso, M. (Markku), Loos, R.J.F. (Ruth), Aulchenko, Y.S. (Yurii), Kilpeläinen, T.O. (Tuomas), Zillikens, M.C. (Carola), Stancáková, A. (Alena), Finucane, F.M. (Francis), Ried, J.S. (Janina), Langenberg, C. (Claudia), Zhang, W. (Weihua), Beckmann, J.S. (Jacques), Luan, J., Vandenput, L. (Liesbeth), Styrkarsdottir, U. (Unnur), Zhou, Y. (Yanhua), Smith, A.V. (Albert Vernon), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Vedantam, S. (Sailaja), Shin, S.-Y., Haritunians, T. (Talin), Fu, M. (Mao), Feitosa, M.F. (Mary Furlan), Kumari, M. (Meena), Halldorsson, B.V. (Bjarni), Tikkanen, E. (Emmi), Mangino, M. (Massimo), Hayward, C. (Caroline), Song, C. (Ci), Arnold, A.M. (Alice), Oostra, B.A. (Ben), Campbell, H. (Harry), Cupples, L.A. (Adrienne), Davis, K.E. (Kathryn), Döring, A. (Angela), Eiriksdottir, G. (Gudny), Estrada Gil, K. (Karol), Fernández-Real, J.M., Garcia, M. (Melissa), Gieger, C. (Christian), Glazer, N.L. (Nicole), Guiducci, C. (Candace), Hofman, A. (Albert), Humphries, S.E. (Steve), Isomaa, B. (Bo), Jacobs, L.C. (Leonie), Jula, A. (Antti), Karasik, D. (David), Karlsson, M.K. (Magnus), Khaw, K-T. (Kay-Tee), Kim, L.J. (Lauren), Kivimaki, M. (Mika), Klopp, N. (Norman), Kuhnel, B. (Brigitte), Kuusisto, J. (Johanna), Liu, Y. (YongMei), Ljunggren, Ö., Lorentzon, M. (Mattias), Luben, R.N. (Robert), McKnight, B. (Barbara), Mellström, D. (Dan), Mitchell, B.D. (Braxton), Mooser, V. (Vincent), Moreno, J.M., Männistö, S. (Satu), O'Connell, J.R. (Jeffery), Pascoe, L. (Laura), Peltonen, L. (Leena Johanna), Peral, B. (Belén), Perola, M. (Markus), Psaty, B.M. (Bruce), Salomaa, V. (Veikko), Savage, D.B. (David), Semple, R.K. (Robert), Skaric-Juric, T. (Tatjana), Sigurdsson, G. (Gunnar), Spector, T.D. (Timothy), Syvänen, A.-C., Talmud, P.J. (Philippa), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Uitterlinden, A.G. (André), Tikka-Kleemola, P. (Päivi), Vidal-Puig, A. (Antonio), Wild, S.H. (Sarah), Wright, A.F. (Alan), Clegg, D.J. (Deborah), Schadt, E.E. (Eric), Wilson, J.F. (James), Rudan, I. (Igor), Ripatti, S. (Samuli), Borecki, I.B. (Ingrid), Shuldiner, A.R. (Alan), Ingelsson, E. (Erik), Jansson, J.O., Kaplan, R.C. (Robert), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Groop, L. (Leif), Kiel, D.P. (Douglas), Rivadeneira Ramirez, F. (Fernando), Walker, M. (Mark), Barroso, I.E. (Inês), Vollenweider, P. (Peter), Waeber, G. (Gérard), Chambers, J.C. (John), Kooner, J.S. (Jaspal), Soranzo, N. (Nicole), Hirschhorn, J.N. (Joel), Stefansson, K. (Kari), Wichmann, H.E. (Heinz Erich), Ohlsson, C. (Claes), O'Rahilly, S. (Stephen), Wareham, N.J. (Nick), Speliotes, E.K. (Elizabeth), Fox, C.S. (Caroline), Laakso, M. (Markku), Loos, R.J.F. (Ruth), and Aulchenko, Y.S. (Yurii)
Abstract: Genome-wide association studies have identified 32 loci influencing body mass index, but this measure does not distinguish lean from fat mass. To identify adiposity loci, we meta-analyzed associations between ∼2.5 million SNPs and body fat percentage from 36,626 individuals and followed up the 14 most significant (P < 10-6) independent loci in 39,576 individuals. We confirmed a previously established adiposity locus in FTO (P = 3 × 10-26) and identified two new loci associated with body fat percentage, one near IRS1 (P = 4 × 10-11) and one near SPRY2 (P = 3 × 10-8). Both loci contain genes with potential links to adipocyte physiology. Notably, the body-fat-decreasing allele near IRS1 is associated with decreased IRS1 expression and with an impaired metabolic profile, including an increased visceral to subcutaneous fat ratio, insulin resistance, dyslipidemia, risk of diabetes and coronary artery disease and decreased adiponectin levels. Our findings provide new insights into adiposity and insulin resistance.
Published: 2011
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