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Randall, Joshua C. ; Winkler, Thomas W. ; Kutalik, Zoltán ; I. Berndt, Sonja ; Jackson, Anne U. ; Monda, Keri L. ; Kilpeläinen, Tuomas O. ; Esko, Tõnu ; Mägi, Reedik ; Li, Shengxu ; Workalemahu, Tsegaselassie ; Feitosa, Mary F. ; Croteau-Chonka, Damien C. ; Day, Felix R. ; Fall, Tove ; Ferreira, Teresa ; Gustafsson, Stefan ; Locke, Adam E. ; Mathieson, Iain ; Scherag, André ; Vedantam, Sailaja ; Wood, Andrew R. ; Liang, Liming ; Steinthorsdottir, Valgerdur ; Thorleifsson, Gudmar ; Dermitzakis, Emmanouil T. ; Dimas, Antigone S. ; Karpe, Fredrik ; Min, Josine L. ; Nicholson, George ; Clegg, Deborah J. ; Person, Thomas ; Krohn, Jon P. ; Bauer, Sabrina ; Buechler, Christa ; Eisinger, Kristina ; Bonnefond, Amélie ; Froguel, Philippe ; Hottenga, Jouke-Jan ; Prokopenko, Inga ; Waite, Lindsay L. ; Harris, Tamara B. ; Smith, Albert Vernon ; Shuldiner, Alan R. ; McArdle, Wendy L. ; Caulfield, Mark J. ; Munroe, Patricia B. ; Grönberg, Henrik ; Chen, Yii-Der Ida ; Li, Guo ; Beckmann, Jacques S. ; Johnson, Toby ; Thorsteinsdottir, Unnur ; Teder-Laving, Maris ; Khaw, Kay-Tee ; Wareham, Nicholas J. ; Zhao, Jing Hua ; Amin, Najaf ; Oostra, Ben A. ; Kraja, Aldi T. ; Province, Michael A. ; Cupples, L. Adrienne ; Heard-Costa, Nancy L. ; Kaprio, Jaakko ; Ripatti, Samuli ; Surakka, Ida ; Collins, Francis S. ; Saramies, Jouko ; Tuomilehto, Jaakko ; Jula, Antti ; Salomaa, Veikko ; Erdmann, Jeanette ; Hengstenberg, Christian ; Loley, Christina ; Schunkert, Heribert ; Lamina, Claudia ; Wichmann, Heinz Erich ; Albrecht, Eva ; Gieger, Christian ; Hicks, Andrew A. ; Johansson, Åsa ; Pramstaller, Peter P. ; Kathiresan, Sekar ; Speliotes, Elizabeth K. ; Penninx, Brenda W. J. H. ; Hartikainen, Anna-Liisa ; Jarvelin, Marjo-Riitta ; Gyllensten, Ulf ; Boomsma, Dorret I. ; Campbell, Harry ; Wilson, James F. ; Chanock, Stephen J. ; Farrall, Martin ; Goel, Anuj ; Medina-Gomez, Carolina ; Rivadeneira, Fernando ; Estrada, Karol ; Uitterlinden, André G. ; Hofman, Albert ; Zillikens, M. Carola ; Heijer, Martin den ; Kiemeney, Lambertus Adrianus ; Maschio, Andrea ; Hall, Per ; Tyrer, Jonathan ; Teumer, Alexander ; Völzke, Henry ; Kovacs, Peter ; Tönjes, Anke ; Mangino, Massimo ; Spector, Tim D. ; Hayward, Caroline ; Rudan, Igor ; Hall, Alistair S. ; Samani, Nilesh J. ; Attwood, Antony Paul ; Sambrook, Jennifer G. ; Hung, Joseph ; Palmer, Lyle J. ; Lokki, Marja-Liisa ; Sinisalo, Juha ; Boucher, Gabrielle ; Huikuri, Heikki ; Lorentzon, Mattias ; Ohlsson, Claes ; Eklund, Niina ; Eriksson, Johan G. ; Barlassina, Cristina ; Rivolta, Carlo ; Nolte, Ilja M. ; Snieder, Harold ; Klauw, Melanie M. van der ; Vliet-Ostaptchouk, Jana V. van ; Gejman, Pablo V. ; Shi, Jianxin ; Jacobs, Kevin B. ; Wang, Zhaoming ; Bakker, Stephan J. L. ; Mateo Leach, Irene ; Navis, Gerjan ; Harst, Pim van der ; Martin, Nicholas Gordon ; Medland, Sarah E. ; Montgomery, Grant W. ; Yang, Jian ; Chasman, Daniel I. ; Ridker, Paul M. ; Rose, Lynda M. ; Lehtimäki, Terho ; Raitakari, Olli ; Absher, Devin ; Iribarren, Carlos ; Basart, Hanneke ; Hovingh, Kees G. ; Hyppönen, Elina ; Power, Chris ; Power, Chris ; Anderson, Denise ; Beilby, John P. ; Hui, Jennie ; Jolley, Jennifer ; Sager, Hendrik ; Bornstein, Stefan R. ; Schwarz, Peter E. H. ; Kristiansson, Kati ; Perola, Markus ; Lindström, Jaana ; Swift, Amy J. ; Uusitupa, Matti ; Atalay, Mustafa ; Lakka, Timo A. ; Rauramaa, Rainer ; Bolton, Jennifer L. ; Fowkes, Gerry ; Fraser, Ross M. ; Price, Jackie F. ; Fischer, Krista ; KrjutÅ¡kov, Kaarel ; Metspalu, Andres ; Mihailov, Evelin ; Langenberg, Claudia ; Luan, Jian'an ; Ong, Ken K. ; Chines, Peter S. ; Keinanen-Kiukaanniemi, Sirkka M. ; Saaristo, Timo E. ; Edkins, Sarah ; Franks, Paul W. ; Hallmans, Göran ; Shungin, Dmitry ; Morris, Andrew David ; Palmer, Colin N. A. ; Erbel, Raimund ; Moebus, Susanne ; Nöthen, Markus Maria ; Pechlivanis, Sonali ; Hveem, Kristian ; Narisu, Narisu ; Hamsten, Anders ; Humphries, Steve E. ; Strawbridge, Rona J. ; Tremoli, Elena ; Grallert, Harald ; Thorand, Barbara ; Illig, Thomas ; Koenig, Wolfgang ; Müller-Nurasyid, Martina ; Peters, Annette ; Böhm, Bernhard O. ; Kleber, Marcus E. ; März, Winfried ; Winkelmann, Bernhard R. ; Kuusisto, Johanna ; Laakso, Markku ; Arveiler, Dominique ; Cesana, Giancarlo ; Kuulasmaa, Kari ; Virtamo, Jarmo ; Yarnell, John W. G. ; Kuh, Diana ; Wong, Andrew ; Lind, Lars ; Faire, Ulf de ; Gigante, Bruna ; Magnusson, Patrik K. E. ; Pedersen, Nancy L. ; Dedoussis, George ; Dimitriou, Maria ; Kolovou, Genovefa ; Kanoni, Stavroula ; Stirrups, Kathleen ; Bonnycastle, Lori L. ; Njølstad, Inger ; Wilsgaard, Tom ; Ganna, Andrea ; Rehnberg, Emil ; Hingorani, Aroon ; Kivimaki, Mika ; Kumari, Meena ; Assimes, Themistocles L. ; Barroso, Inês ; Boehnke, Michael ; Borecki, Ingrid B. ; Deloukas, Panos ; Fox, Caroline S. ; Frayling, Timothy ; Groop, Leif C. ; Haritunians, Talin ; Hunter, David ; Ingelsson, Erik ; Kaplan, Robert ; Mohlke, Karen L. ; North, Kari E. ; Lindgren, Cecilia M. ; Qi, Lu ; Loos, Ruth J. F. ; Heid, Iris M. ; Hirschhorn, Joel N. ; McCarthy, Mark I. ; Abecasis, Gonçalo R. ; Stefansson, Kari ; Strachan, David P. ; Schlessinger, David ; O'Connell, Jeffrey R. ; Duijn, Cornelia M. van
Men and women differ substantially regarding height, weight, and body fat. Interestingly, previous work detecting genetic effects for waist-to-hip ratio, to assess body fat distribution, has found that many of these showed sex-differences. However, systematic searches for sex-differences in genetic effects have not yet been conducted. Therefore, we undertook a genome-wide search for sexually dimorphic genetic effects for anthropometric traits including 133,723 individuals in a large meta-analysis and followed promising variants in further 137,052 individuals, including a total of 94 studies. We identified seven loci with significant sex-difference including four previously established (near GRB14/COBLL1, LYPLAL1/SLC30A10, VEGFA, ADAMTS9) and three novel anthropometric trait loci (near MAP3K1, HSD17B4, PPARG), all of which were significant in women, but not in men. Of interest is that sex-difference was only observed for waist phenotypes, but not for height or body-mass-index. We found no evidence for sex-differences with opposite effect direction for men and women. The PPARG locus is of specific interest due to its link to diabetes genetics and therapy. Our findings demonstrate the importance of investigating sex differences, which may lead to a better understanding of disease mechanisms with a potential relevance to treatment options.
Pinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Wang, Zhuozhi ; Vorstman, Jacob A. S. ; Thompson, Ann P. ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T. ; Oliveira, Bárbara ; Marshall, Christian R. ; Magalhães, Tiago R. ; Lowe, Jennifer K. ; Howe, Jennifer L. ; Griswold, Anthony J. ; Gilbert, John ; Duketis, Eftichia ; Dombroski, Beth A. ; Jonge, Maretha de ; Cuccaro, Michael L. ; Crawford, Emily L. ; Correia, Catarina T. ; Conroy, Judith ; Conceição, Inȇs C. ; Geburtig-Chiocchetti, Andreas ; Casey, Jillian P. ; Cai, Guiqing ; Cabrol, Christelle ; Bolshakova, Nadia ; Bacchelli, Elena ; Anney, Richard ; Gallinger, Steven ; Cotterchio, Michelle ; Casey, Graham ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; Wallace, Simon ; Engeland, Herman van ; Tryfon, Ana ; Thomson, Susanne ; Soorya, Latha ; Roge, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy J. ; McInnes, L. Alison ; McGrew, Susan G. ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann ; Kolevzon, Alexander ; González, Patricia Jiménez ; Jacob, Suma ; Holt, Richard ; Guter, Stephen J. ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Fernandez, Bridget A. ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F. ; Bölte, Sven ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J. ; Anagnostou, Evdokia ; Almeida, Joana ; Wijsman, Ellen M. ; Vieland, Veronica J. ; Vicente, Astrid M. ; Schellenberg, Gerard D. ; Pericak-Vance, Margaret Ann ; Paterson, Andrew D. ; Parr, Jeremy R. ; Oliveira, Guiomar ; Nurnberger, John I. ; Monaco, Anthony P. ; Maestrini, Elena ; Klauck, Sabine M. ; Hakonarson, Hakon ; Haines, Jonathan L. ; Geschwind, Daniel H. ; Freitag, Christine M. ; Folstein, Susan E. ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S. ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H. ; Buxbaum, Joseph D. ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W.
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
Pati, Sarthak ; Baid, Ujjwal ; Edwards, Brandon ; Sheller, Micah ; Wang, Shih-Han ; Reina, G. Anthony ; Foley, Patrick ; Gruzdev, Alexey ; Karkada, Deepthi ; Davatzikos, Christos ; Sako, Chiharu ; Ghodasara, Satyam ; Bilello, Michel ; Mohan, Suyash ; Vollmuth, Philipp ; Brugnara, Gianluca ; Jayachandran Preetha, Chandrakanth ; Sahm, Felix ; Maier-Hein, Klaus ; Zenk, Maximilian ; Bendszus, Martin ; Wick, Wolfgang ; Calabrese, Evan ; Rudie, Jeffrey ; Villanueva-Meyer, Javier ; Cha, Soonmee ; Ingalhalikar, Madhura ; Jadhav, Manali ; Pandey, Umang ; Saini, Jitender ; Garrett, John ; Larson, Matthew ; Jeraj, Robert ; Currie, Stuart ; Frood, Russell ; Fatania, Kavi ; Huang, Raymond Y. ; Chang, Ken ; Balaña, Carmen ; Capellades, Jaume ; Puig, Josep ; Trenkler, Johannes ; Pichler, Josef ; Necker, Georg ; Haunschmidt, Andreas ; Meckel, Stephan ; Shukla, Gaurav ; Liem, Spencer ; Alexander, Gregory S. ; Lombardo, Joseph ; Palmer, Joshua D. ; Flanders, Adam E. ; Dicker, Adam P. ; Sair, Haris I. ; Jones, Craig K. ; Venkataraman, Archana ; Jiang, Meirui ; So, Tiffany Y. ; Chen, Cheng ; Heng, Pheng Ann ; Dou, Qi ; Kozubek, Michal ; Lux, Filip ; Michálek, Jan ; Matula, Petr ; Keřkovský, Miloš ; Kopřivová, Tereza ; Dostál, Marek ; Vybíhal, Václav ; Vogelbaum, Michael A. ; Mitchell, J. Ross ; Farinhas, Joaquim ; Maldjian, Joseph A. ; Bangalore Yogananda, Chandan Ganesh ; Pinho, Marco C. ; Reddy, Divya ; Holcomb, James ; Wagner, Benjamin C. ; Ellingson, Benjamin M. ; Cloughesy, Timothy F. ; Raymond, Catalina ; Oughourlian, Talia ; Hagiwara, Akifumi ; Wang, Chencai ; To, Minh-Son ; Bhardwaj, Sargam ; Chong, Chee ; Agzarian, Marc ; Falcão, Alexandre Xavier ; Martins, Samuel B. ; Teixeira, Bernardo Corrêa de Almeida ; Sprenger, Flávia ; Menotti, David ; Lucio, Diego R. ; LaMontagne, Pamela ; Marcus, Daniel ; Wiestler, Benedikt ; Kofler, Florian ; Ezhov, Ivan ; Metz, Marie ; Jain, Rajan ; Lee, Matthew ; Lui, Yvonne W. ; McKinley, Richard ; Slotboom, Johannes ; Radojewski, Piotr ; Meier, Raphael ; Wiest, Roland Gerhard Rudi ; Murcia, Derrick ; Fu, Eric ; Haas, Rourke ; Thompson, John ; Ormond, David Ryan ; Badve, Chaitra ; Sloan, Andrew E. ; Vadmal, Vachan ; Waite, Kristin ; Colen, Rivka R. ; Pei, Linmin ; Ak, Murat ; Srinivasan, Ashok ; Bapuraj, Jayapalli Rajiv ; Rao, Arvind ; Wang, Nicholas ; Yoshiaki, Ota ; Moritani, Toshio ; Turk, Sevcan ; Lee, Joonsang ; Prabhudesai, Snehal ; Morón, Fanny ; Mandel, Jacob ; Kamnitsas, Konstantinos ; Glocker, Ben ; Dixon, Luke V. M. ; Williams, Matthew ; Zampakis, Peter ; Panagiotopoulos, Vasileios ; Tsiganos, Panagiotis ; Alexiou, Sotiris ; Haliassos, Ilias ; Zacharaki, Evangelia I. ; Moustakas, Konstantinos ; Kalogeropoulou, Christina ; Kardamakis, Dimitrios M. ; Choi, Yoon Seong ; Lee, Seung-Koo ; Chang, Jong Hee ; Ahn, Sung Soo ; Luo, Bing ; Poisson, Laila ; Wen, Ning ; Tiwari, Pallavi ; Verma, Ruchika ; Bareja, Rohan ; Yadav, Ipsa ; Chen, Jonathan ; Kumar, Neeraj ; Smits, Marion ; Voort, Sebastian R. van der ; Alafandi, Ahmed ; Incekara, Fatih ; Wijnenga, Maarten M. J. ; Kapsas, Georgios ; Gahrmann, Renske ; Schouten, Joost W. ; Dubbink, Hendrikus J. ; Vincent, Arnaud J. P. E. ; Van den Bent, Martin J. ; French, Pim J. ; Klein, Stefan ; Yuan, Yading ; Sharma, Sonam ; Tseng, Tzu-Chi ; Adabi, Saba ; Niclou, Simone P. ; Keunen, Olivier ; Hau, Ann-Christin ; Vallières, Martin ; Fortin, David ; Lepage, Martin ; Landman, Bennett ; Ramadass, Karthik ; Xu, Kaiwen ; Chotai, Silky ; Chambless, Lola B. ; Mistry, Akshitkumar ; Thompson, Reid C. ; Gusev, Yuriy ; Bhuvaneshwar, Krithika ; Sayah, Anousheh ; Bencheqroun, Camelia ; Belouali, Anas ; Madhavan, Subha ; Booth, Thomas C. ; Chelliah, Alysha ; Modat, Marc ; Shuaib, Haris ; Dragos, Carmen ; Abayazeed, Aly ; Kolodziej, Kenneth ; Hill, Michael ; Abbassy, Ahmed ; Gamal, Shady ; Mekhaimar, Mahmoud ; Qayati, Mohamed ; Reyes, Mauricio ; Park, Ji Eun ; Yun, Jihye ; Kim, Ho Sung ; Mahajan, Abhishek ; Muzi, Mark ; Benson, Sean ; Beets-Tan, Regina G. H. ; Teuwen, Jonas ; Herrera-Trujillo, Alejandro ; Trujillo, Maria ; Escobar, William ; Abello, Ana Lorena ; Bernal, Jose ; Gómez, Jhon ; Choi, Joseph ; Baek, Stephen ; Kim, Yusung ; Ismael, Heba ; Allen, Bryan ; Buatti, John M. ; Kotrotsou, Aikaterini ; Li, Hongwei ; Weiss, Tobias ; Weller, Michael ; Bink, Andrea ; Pouymayou, Bertrand ; Shaykh, Hassan F. ; Saltz, Joel ; Prasanna, Prateek ; Shrestha, Sampurna ; Mani, Kartik M. ; Payne, David ; Kurc, Tahsin ; Pelaez, Enrique ; Franco-Maldonado, Heydy ; Loayza, Francis ; Quevedo Sacoto, Andrés Sebastián ; Guevara, Pamela ; Torche, Esteban ; Mendoza, Cristobal ; Vera, Franco ; Ríos, Elvis ; López, Eduardo ; Velastin, Sergio Alejandro ; Ogbole, Godwin ; Soneye, Mayowa ; Oyekunle, Dotun ; Odafe-Oyibotha, Olubunmi ; Osobu, Babatunde ; Shu’aibu, Mustapha ; Dorcas, Adeleye ; Dako, Farouk ; Simpson, Amber L. ; Hamghalam, Mohammad ; Peoples, Jacob J. ; Hu, Ricky ; Tran, Anh ; Cutler, Danielle ; Moraes, Fabio Y. ; Boss, Michael A. ; Gimpel, James ; Kattil Veettil, Deepak ; Schmidt, Kendall ; Bialecki, Brian ; Marella, Sailaja ; Price, Cynthia ; Cimino, Lisa ; Apgar, Charles ; Shah, Prashant ; Menze, Bjoern Holger ; Barnholtz-Sloan, Jill S. ; Martin, Jason ; Bakas, Spyridon
Pati, Sarthak ; Baid, Ujjwal ; Edwards, Brandon ; Sheller, Micah ; Wang, Shih-Han ; Reina, G. Anthony ; Foley, Patrick ; Gruzdev, Alexey ; Karkada, Deepthi ; Davatzikos, Christos ; Sako, Chiharu ; Ghodasara, Satyam ; Bilello, Michel ; Mohan, Suyash ; Vollmuth, Philipp ; Brugnara, Gianluca ; Jayachandran Preetha, Chandrakanth ; Sahm, Felix ; Maier-Hein, Klaus ; Zenk, Maximilian ; Bendszus, Martin ; Wick, Wolfgang ; Calabrese, Evan ; Rudie, Jeffrey ; Villanueva-Meyer, Javier ; Cha, Soonmee ; Ingalhalikar, Madhura ; Jadhav, Manali ; Pandey, Umang ; Saini, Jitender ; Garrett, John ; Larson, Matthew ; Jeraj, Robert ; Currie, Stuart ; Frood, Russell ; Fatania, Kavi ; Huang, Raymond Y. ; Chang, Ken ; Balaña, Carmen ; Capellades, Jaume ; Puig, Josep ; Trenkler, Johannes ; Pichler, Josef ; Necker, Georg ; Haunschmidt, Andreas ; Meckel, Stephan ; Shukla, Gaurav ; Liem, Spencer ; Alexander, Gregory S. ; Lombardo, Joseph ; Palmer, Joshua D. ; Flanders, Adam E. ; Dicker, Adam P. ; Sair, Haris I. ; Jones, Craig K. ; Venkataraman, Archana ; Jiang, Meirui ; So, Tiffany Y. ; Chen, Cheng ; Heng, Pheng Ann ; Dou, Qi ; Kozubek, Michal ; Lux, Filip ; Michálek, Jan ; Matula, Petr ; Keřkovský, Miloš ; Kopřivová, Tereza ; Dostál, Marek ; Vybíhal, Václav ; Vogelbaum, Michael A. ; Mitchell, J. Ross ; Farinhas, Joaquim ; Maldjian, Joseph A. ; Bangalore Yogananda, Chandan Ganesh ; Pinho, Marco C. ; Reddy, Divya ; Holcomb, James ; Wagner, Benjamin C. ; Ellingson, Benjamin M. ; Cloughesy, Timothy F. ; Raymond, Catalina ; Oughourlian, Talia ; Hagiwara, Akifumi ; Wang, Chencai ; To, Minh-Son ; Bhardwaj, Sargam ; Chong, Chee ; Agzarian, Marc ; Falcão, Alexandre Xavier ; Martins, Samuel B. ; Teixeira, Bernardo Corrêa de Almeida ; Sprenger, Flávia ; Menotti, David ; Lucio, Diego R. ; LaMontagne, Pamela ; Marcus, Daniel ; Wiestler, Benedikt ; Kofler, Florian ; Ezhov, Ivan ; Metz, Marie ; Jain, Rajan ; Lee, Matthew ; Lui, Yvonne W. ; McKinley, Richard ; Slotboom, Johannes ; Radojewski, Piotr ; Meier, Raphael ; Wiest, Roland Gerhard Rudi ; Murcia, Derrick ; Fu, Eric ; Haas, Rourke ; Thompson, John ; Ormond, David Ryan ; Badve, Chaitra ; Sloan, Andrew E. ; Vadmal, Vachan ; Waite, Kristin ; Colen, Rivka R. ; Pei, Linmin ; Ak, Murat ; Srinivasan, Ashok ; Bapuraj, Jayapalli Rajiv ; Rao, Arvind ; Wang, Nicholas ; Yoshiaki, Ota ; Moritani, Toshio ; Turk, Sevcan ; Lee, Joonsang ; Prabhudesai, Snehal ; Morón, Fanny ; Mandel, Jacob ; Kamnitsas, Konstantinos ; Glocker, Ben ; Dixon, Luke V. M. ; Williams, Matthew ; Zampakis, Peter ; Panagiotopoulos, Vasileios ; Tsiganos, Panagiotis ; Alexiou, Sotiris ; Haliassos, Ilias ; Zacharaki, Evangelia I. ; Moustakas, Konstantinos ; Kalogeropoulou, Christina ; Kardamakis, Dimitrios M. ; Choi, Yoon Seong ; Lee, Seung-Koo ; Chang, Jong Hee ; Ahn, Sung Soo ; Luo, Bing ; Poisson, Laila ; Wen, Ning ; Tiwari, Pallavi ; Verma, Ruchika ; Bareja, Rohan ; Yadav, Ipsa ; Chen, Jonathan ; Kumar, Neeraj ; Smits, Marion ; Voort, Sebastian R. van der ; Alafandi, Ahmed ; Incekara, Fatih ; Wijnenga, Maarten M. J. ; Kapsas, Georgios ; Gahrmann, Renske ; Schouten, Joost W. ; Dubbink, Hendrikus J. ; Vincent, Arnaud J. P. E. ; Van den Bent, Martin J. ; French, Pim J. ; Klein, Stefan ; Yuan, Yading ; Sharma, Sonam ; Tseng, Tzu-Chi ; Adabi, Saba ; Niclou, Simone P. ; Keunen, Olivier ; Hau, Ann-Christin ; Vallières, Martin ; Fortin, David ; Lepage, Martin ; Landman, Bennett ; Ramadass, Karthik ; Xu, Kaiwen ; Chotai, Silky ; Chambless, Lola B. ; Mistry, Akshitkumar ; Thompson, Reid C. ; Gusev, Yuriy ; Bhuvaneshwar, Krithika ; Sayah, Anousheh ; Bencheqroun, Camelia ; Belouali, Anas ; Madhavan, Subha ; Booth, Thomas C. ; Chelliah, Alysha ; Modat, Marc ; Shuaib, Haris ; Dragos, Carmen ; Abayazeed, Aly ; Kolodziej, Kenneth ; Hill, Michael ; Abbassy, Ahmed ; Gamal, Shady ; Mekhaimar, Mahmoud ; Qayati, Mohamed ; Reyes, Mauricio ; Park, Ji Eun ; Yun, Jihye ; Kim, Ho Sung ; Mahajan, Abhishek ; Muzi, Mark ; Benson, Sean ; Beets-Tan, Regina G. H. ; Teuwen, Jonas ; Herrera-Trujillo, Alejandro ; Trujillo, Maria ; Escobar, William ; Abello, Ana Lorena ; Bernal, Jose ; Gómez, Jhon ; Choi, Joseph ; Baek, Stephen ; Kim, Yusung ; Ismael, Heba ; Allen, Bryan ; Buatti, John M. ; Kotrotsou, Aikaterini ; Li, Hongwei ; Weiss, Tobias ; Weller, Michael ; Bink, Andrea ; Pouymayou, Bertrand ; Shaykh, Hassan F. ; Saltz, Joel ; Prasanna, Prateek ; Shrestha, Sampurna ; Mani, Kartik M. ; Payne, David ; Kurc, Tahsin ; Pelaez, Enrique ; Franco-Maldonado, Heydy ; Loayza, Francis ; Quevedo Sacoto, Andrés Sebastián ; Guevara, Pamela ; Torche, Esteban ; Mendoza, Cristobal ; Vera, Franco ; Ríos, Elvis ; López, Eduardo ; Velastin, Sergio Alejandro ; Ogbole, Godwin ; Soneye, Mayowa ; Oyekunle, Dotun ; Odafe-Oyibotha, Olubunmi ; Osobu, Babatunde ; Shu’aibu, Mustapha ; Dorcas, Adeleye ; Dako, Farouk ; Simpson, Amber L. ; Hamghalam, Mohammad ; Peoples, Jacob J. ; Hu, Ricky ; Tran, Anh ; Cutler, Danielle ; Moraes, Fabio Y. ; Boss, Michael A. ; Gimpel, James ; Kattil Veettil, Deepak ; Schmidt, Kendall ; Bialecki, Brian ; Marella, Sailaja ; Price, Cynthia ; Cimino, Lisa ; Apgar, Charles ; Shah, Prashant ; Menze, Bjoern Holger ; Barnholtz-Sloan, Jill S. ; Martin, Jason ; Bakas, Spyridon
Magdy Abdelwahab Abdelrahman, Niseem ; Adamczyk, Leszek ; Adkins, J. Kevin ; Agakishiev, Geydar ; Aggarwal, Madan Mohan ; Ahammed, Zubayer ; Alekseev, Igor G. ; Alford, J. ; Anson, Christopher Daniel ; Aparin, Alexey ; Arkhipkin, Dmitry A. ; Aschenauer, Elke Caroline ; Averichev, Georgy S. ; Banerjee, A. ; Beavis, Dana Richard ; Bellwied, Rene ; Bhasin, Anju ; Bhati, Ashok Kumar ; Bhattarai, P. ; Bielčík, Jaroslav ; Bielčíková, Jana ; Bland, Leslie C. ; Bordyuzhin, Igor G. ; Borowski, W. ; Bouchet, Jonathan ; Brandin, Andrei V. ; Brovko, Samantha G. ; Bültmann, Stephen L. ; Bunzarov, Ivan ; Burton, T.P. ; Butterworth, Joseph ; Caines, Helen Louise ; Calderón de la Barca Sánchez, Manuel ; Campbell, J.M. ; Cebra, Daniel A. ; Cendejas, R. ; Cervantes, M.C. ; Chaloupka, Petr ; Chang, Z. ; Chattopadhyay, S. ; Chen, H.F. ; Chen, J.H. ; Chen, L. ; Cheng, J. ; Cherney, Michael Gerard ; Chikanian, Alexei ; Christie, William ; Codrington, M.J.M. ; Contin, Giacomo ; Cramer, John G. ; Crawford, Henry J. ; Cui, X. ; Das, Supriya ; Davila Leyva, A. ; De Silva, L.C. ; Debbe, R.R. ; Dedovič, Tatiana G. ; Deng, J. ; Derevschikov, Anatoly A. ; Souza, Rafael Derradi de ; di Ruzza, Benedetto ; Didenko, Lidia ; Dilks, Christopher ; Ding, F. ; Djawotho, P. ; Dong, X. ; Drachenberg, James Lucus ; Draper, James E. ; Du, C.M. ; Dunkelberger, Lloyd Edward ; Dunlop, James C. ; Efimov, Leonid G. ; Engelage, Jon M. ; Engle, K.S. ; Eppley, Geary Wareham ; Eun, L. ; Evdokimov, Olga Y. ; Eyser, Kjeld Oleg ; Fatemi, Renee H. ; Fazio, Salvatore ; Fedorišin, Jan ; Filip, Peter ; Fisyak, Yuri V. ; Flores, C.E. ; Gagliardi, Carl A. ; Gangadharan, Dhevan Raja ; Garand, David ; Geurts, Frank ; Gibson, Adam ; Girard, M. ; Gliske, S. ; Greiner, Leo Clifford ; Grosnick, David P. ; Gunarathne, D.S. ; Guo, Y. ; Gupta, Anik ; Gupta, S. ; Guryn, Włodzimierz ; Haag, B. ; Hamed, Ahmed M. ; Han, L-X. ; Haque, R. ; Harris, John W. ; Heppelmann, Steven Francis ; Hirsch, Andrew S. ; Hoffmann, Gerald W. ; Hofman, D.J. ; Horvat, S. ; Huang, B. ; Huang, H.Z. ; Huang, X. ; Huck, Patrick ; Humanic, Thomas J. ; Igo, George J. ; Jacobs, William W. ; Jang, H. ; Judd, Eleanor G. ; Kabana, Sonia ; Kalinkin, Dmitry ; Kang, K. ; Kauder, Kolja ; Ke, Hongwei ; Keane, Declan ; Kechechyan, Armen ; Kesich, A. ; Khan, Z.H. ; Kikola, D.P. ; Kisel, Ivan ; Kisiel, Adam Ryszard ; Koetke, Donald D. ; Kollegger, Thorsten ; Konzer, J. ; Koralt, I. ; Kosarzewski, Leszek Krzysztof ; Kotchenda, L. ; Kraishan, A.F. ; Kravtsov, Peter ; Krueger, Keith William ; Kulakov, Igor ; Kumar, Lokesh ; Kycia, R.A. ; Lamont, Matthew A. C. ; Landgraf, Jeffery M. ; Landry, K.D. ; Lauret, Jerome ; Lebedev, Alexei ; Lednicky, Richard ; Lee, J.H. ; Li, C. ; Li, W. ; Li, Xiaomei ; Li, Xiaomei ; Li, Y. ; Li, Z.M. ; Lisa, Michael A. ; Liu, F. ; Ljubicic, Tonko A. ; Llope, William Joseph ; Lomnitz, Michael ; Longacre, Ronald S. ; Luo, X. ; Ma, G.L. ; Ma, Yu-Gang ; Mahapatra, D.P. ; Majka, Richard Daniel ; Margetis, Spyridon ; Markert, Christina ; Masui, H. ; Matis, Howard S. ; McDonald, Daniel ; McShane, Tom S. ; Minaev, Nikolai G. ; Mioduszewski, Saskia ; Mohanty, Bedangadas ; Mondal, Mriganka Mouli ; Morozov, Dmitry A. ; Mustafa, M.K. ; Nandi, Basanta Kumar ; Nasim, Md. ; Nayak, Tapan Kumar ; Nelson, John M. ; Nigmatkulov, Grigory A. ; Nogach, Larisa V. ; Noh, S.Y. ; Novak, J. ; Nurušev, Sandibek B. ; Odyniec, Grazyna Janina ; Ogawa, Akio ; Oh, Kunsu ; Ohlson, Alice ; Okorokov, Vitaly A. ; Oldag, E.W. ; Olvitt, D.L. ; Page, Brian S. ; Pan, Y.X. ; Pandit, Y. ; Panebratsev, Yuri ; Pawlak, Tomasz Jan ; Pawlik, Bogdan ; Pei, Hua ; Perkins, Chris ; Pile, P. ; Planinic, Mirko ; Pluta, Jan Marian ; Poljak, Nikola ; Poniatowska, K. ; Porter, Jeffrey Brent ; Poskanzer, Arthur M. ; Pruthi, Navneet Kumar ; Przybycien, Mariusz ; Putschke, Jörn H. ; Qiu, H. ; Quintero, Amilkar ; Ramachandran, Suvarna ; Raniwala, Rashmi ; Raniwala, Sudhir ; Ray, Robert L. ; Riley, C.K. ; Ritter, Hans Georg ; Roberts, Jabus B. ; Rogačevskij, Oleg V. ; Romero, Juan L. ; Ross, J.F. ; Roy, Ankhi ; Ruan, Lijuan ; Rusnak, Jan ; Rusnakova, Olga ; Sahoo, Nihar Ranjan ; Sahu, Pradip Kumar ; Sakrejda, Iwona ; Salur, Sevil ; Sandacz, Andrzej ; Sandweiss, Jack H. ; Sangaline, Evan ; Sarkar, Amal ; Schambach, Joachim ; Scharenberg, Rolf Paul ; Schmah, Alexander ; Schmidke, William B. ; Schmitz, Norbert ; Seger, Janet Elizabeth ; Seyboth, Peter ; Shah, N. ; Shahaliev, Ehtiram ; Shanmuganathan, Prashanth V. ; Shao, M. ; Sharma, B. ; Shen, W.Q. ; Shi, S.S. ; Shou, Q.Y. ; Sichtermann, Ernst P. ; Šimko, Miroslav ; Skoby, M.J. ; Smirnov, Dmitri V. ; Smirnov, Nikolai ; Solanki, D. ; Sorensen, Paul Richard ; Spinka, Harold. M. ; Srivastava, Brijesh Kumar ; Stanislaus, T. D. Shirvel ; Stevens, J.R. ; Stock, Reinhard ; Strichanov, Michail Nikolaevič ; Stringfellow, Blair ; Šumbera, Michal ; Sun, X. ; Sun, X.M. ; Sun, Y. ; Sun, Z. ; Surrow, Bernd ; Svirida, Dmitry N. ; Symons, Timothy James MacNeil ; Szelezniak, M.A. ; Takahashi, Jun ; Tang, Aihong ; Tang, Zebo ; Tarnowsky, Terence J. ; Thomas, James H. ; Timmins, Anthony Robert ; Tlusty, David ; Tokarev, Mikhail V. ; Trentalange, Stephen ; Tribble, Robert E. ; Tribedy, Prithwish ; Trzeciak, Barbara Antonina ; Tsai, Oleg D. ; Turnau, J. ; Ullrich, Thomas ; Underwood, David G. ; Van Buren, Gene ; Nieuwenhuizen, Gerrit J. van ; Vandenbroucke, Maxence ; Vanfossen, Joseph A. ; Varma, Raghava ; Vasconcelos, Geraldo M. S. ; Vasiliev, Alexander Nikolaevich ; Vértesi, Róbert ; Videbæk, Flemming ; Viyogi, Yogendra P. ; Vokal, Stanislav ; Vossen, A. ; Wada, M. ; Wang, F. ; Wang, G. ; Wang, H. ; Wang, J.S. ; Wang, X.L. ; Wang, Y. ; Wang, Y. ; Webb, Grant ; Webb, Jason C. ; Westfall, Gary D. ; Wieman, Howard ; Wissink, Scott W. ; Wu, Y.F. ; Xiao, Z. ; Xie, W. ; Xin, K. ; Xu, H. ; Xu, J. ; Xu, N. ; Xu, Q.H. ; Xu, Y. ; Xu, Z. ; Yan, W. ; Yang, C. ; Yang, Y. ; Yang, Y. ; Ye, Z. ; Yepes, Pablo P. ; Yi, L. ; Yip, K. ; Yoo, In-Kwon ; Yu, N. ; Zbroszczyk, Hanna Paulina ; Zha, W. ; Zhang, J.B. ; Zhang, J.L. ; Zhang, S. ; Zhang, X.P. ; Zhang, Y. ; Zhang, Z.P. ; Zhao, F. ; Zhao, J. ; Zhong, C. ; Zhu, X. ; Zhu, Y.H. ; Zoulkarneeva, Youlia ; Zyzak, Maksym
A data-driven method was applied to Au+Au collisions at √sNN = 200 GeV made with the STAR detector at RHIC to isolate pseudorapidity distance η-dependent and η-independent correlations by using two- and four-particle azimuthal cumulant measurements. We identified a η-independent component of the correlation, which is dominated by anisotropic flow and flow fluctuations. It was also found to be independent of η within the measured range of pseudorapidity |η| < 1. In 20–30% central Au+Au collisions, the relative flow fluctuation was found to be 34%±2%(stat.)±3%(sys.) for particles with transverse momentum pT less than 2 GeV/c. The η-dependent part, attributed to nonflow correlations, is found to be 5% ± 2%(sys.) relative to the flow of the measured second harmonic cumulant at |η| > 0.7.
Hudson, Lawrence N. ; Newbold, Tim ; Contu, Sara ; Hill, Samantha L. L. ; Lysenko, Igor ; Palma, Adriana de ; Phillips, Helen R. P. ; Senior, Rebecca A. ; Bennett, Dominic J. ; Booth, Hollie ; Choimes, Argyrios ; Correia, David L. P. ; Day, Julie ; Echeverria-Londono, Susy ; Garon, Morgan ; Harrison, Michelle L. K. ; Ingram, Daniel J. ; Jung, Martin ; Kemp, Victoria ; Kirkpatrick, Lucinda ; Martin, Callum D. ; Pan, Yuan ; White, Hannah J. ; Aben, Job ; Abrahamczyk, Stefan ; Adum, Gilbert B. ; Aguilar-Barquero, Virginia ; Aizen, Marcelo ; Ancrenaz, Marc ; Arbelaez-Cortes, Enrique ; Armbrecht, Inge ; Azhar, Badrul ; Azpiroz, Adrián B. ; Baeten, Lander ; Báldi, András ; Banks, John E. ; Barlow, Jos ; Batáry, Péter ; Bates, Adam J. ; Bayne, Erin M. ; Beja, Pedro ; Berg, Åke ; Berry, Nicholas J. ; Bicknell, Jake E. ; Bihn, Jochen H. ; Böhning-Gaese, Katrin ; Boekhout, Teun ; Boutin, Celine ; Bouyer, Jeremy ; Brearley, Francis Q. ; Brito, Isabel ; Brunet, Jörg ; Buczkowski, Grzegorz ; Buscardo, Erika ; Cabra-Garcia, Jimmy ; Calvino-Cancela, Maria ; Cameron, Sydney A. ; Cancello, Eliana M. ; Carrijo, Tiago F. ; Carvalho, Anelena L. ; Castro, Helena ; Castro-Luna, Alejandro Antonio ; Cerda, Rolando ; Cerezo, Alexis ; Chauvat, Matthieu ; Clarke, Frank M. ; Cleary, Daniel F. R. ; Connop, Stuart P. ; D'Aniello, Biagio ; Silva, Pedro Giovani da ; Darvill, Ben ; Dauber, Jens ; Dejean, Alain ; Diekötter, Tim ; Dominguez-Haydar, Yamileth ; Dormann, Carsten F. ; Dumont, Bertrand ; Dures, Simon G. ; Dynesius, Mats ; Edenius, Lars ; Elek, Zoltan ; Entling, Martin H. ; Farwig, Nina ; Fayle, Tom M. ; Felicioli, Antonio ; Felton, Annika M. ; Ficetola, Gentile Francesco ; Filgueiras, Bruno K. C. ; Fonte, Steve J. ; Fraser, Lauchlan H. ; Fukuda, Daisuke ; Furlani, Dario ; Ganzhorn, Jörg U. ; Garden, Jenni G. ; Gheler-Costa, Carla ; Giordani, Paolo ; Giordano, Simonetta ; Gottschalk, Marco S. ; Goulson, Dave ; Gove, Aaron D. ; Grogan, James ; Hanley, Mick E. ; Hanson, Thor ; Hashim, Nor R. ; Hawes, Joseph E. ; Hébert, Christian ; Helden, Alvin J. ; Henden, John-André ; Hernández, Lionel ; Herzog, Felix ; Higuera-Diaz, Diego ; Hilje, Branko ; Horgan, Finbarr G. ; Horvath, Roland ; Hylander, Kristoffer ; Horvath, Roland ; Isaacs-Cubides, Paola ; Ishitani, Mashiro ; Jacobs, Carmen T. ; Jaramillo, Victor J. ; Jauker, Birgit ; Jonsell, Matts ; Jung, Thomas S. ; Kapoor, Vena ; Kati, Vassiliki ; Katovai, Eric ; Kessler, Michael ; Knop, Eva ; Kolb, Annette ; Körösi, Àdám ; Lachat, Thibault ; Lantschner, Victoria ; Le Féon, Violette ; LeBuhn, Gretchen ; Légaré, Jean-Philippe ; Letcher, Susan G. ; Littlewood, Nick A. ; López-Quintero, Carlos A. ; Louhaichi, Mounir ; Lövei, Gabor L. ; Lucas-Borja, Manuel Esteban ; Luja, Victor H. ; Maeto, Kaoru ; Magura, Tibor ; Mallari, Neil Aldrin D. ; Marin-Spiotta, Erika ; Marshall, Edward Jon P. ; Martínez, Eliana ; Mayfield, Margaret M. ; Mikusinski, Gregorz ; Milder, Jeffery C. ; Miller, James R. ; Morales, Carolina L. ; Muriithi-Muchane, Mary Nyawira ; Muchane, Muchai ; Naidoo, Robin ; Nakamura, Akihiro ; Naoe, Shoji ; Nates-Parra, Guiomar ; Navarerete Gutierrez, Dario A. ; Neuschulz, Eike Lena ; Noreika, Norbertas ; Norfolk, Olivia ; Noriega, Jorge Ari ; Nöske, Nicole M. ; O'Dea, Niall ; Oduro, William ; Ofori-Boateng, Caleb ; Oke, Chris O. ; Osgathorpe, Lynne M. ; Paritsis, Juan ; Parrah, Alejandro ; Pelegrin, Nicolás ; Peres, Carlos A. ; Persson, Anna S. ; Petanidou, Theodora ; Phalan, Ben ; Philips, T. Keith ; Poveda, Katja ; Power, Eileen F. ; Presley, Steven J. ; Proença, Vânia ; Quaranta, Marino ; Quintero, Carolina ; Redpath-Downing, Nicola A. ; Reid, J. Leighton ; Reis, Yana T. ; Ribeiro, Danilo B. ; Richardson, Barbara A. ; Richardson, Michael J. ; Robles, Carolina A. ; Römbke, Jörg ; Romero-Duque, Luz Piedad ; Rosselli, Loreta ; Rossiter, Stephen J. ; Roulston, T'ai H. ; Rousseau, Laurent ; Sadler, Jonathan P. ; Sáfián, Szbolcs ; Saldaña-Vásquez, Romeo A. ; Samnegård, Ulrika ; Schüepp, Christof ; Schweiger, Oliver ; Sedlock, Jodi L. ; Shahabuddin, Ghazala ; Sheil, Douglas ; Silva, Fernando A. B. ; Slade, Eleanor ; Smith-Pardo, Allan H. ; Sodhi, Navjot S. ; Somarriba, Eduardo J. ; Sosa, Ramón A. ; Stout, Jane C. ; Struebig, Matthew J. ; Sung, Yik-Hei ; Threlfall, Caragh G. ; Tonietto, Rebecca ; Tóthmérész, Béla ; Tscharntke, Teja ; Turner, Edgar C. ; Tylianakis, Jason M. ; Vanbergen, Adam J. ; Vassilev, Kiril ; Verboven, Hans A. F. ; Vergara, Carlos H. ; Vergara, Pablo M. ; Verhulst, Jort ; Walker, Tony R. ; Wang, Yanping ; Watling, James I. ; Wells, Konstans ; Williams, Christopher D. ; Willig, Michael R. ; Woinarski, John Casimir Zichy ; Wolf, Jan H. D. ; Woodcock, Ben A. ; Yu, Douglas W. ; Zailsev, Andreys ; Collen, Ben ; Ewers, Rob M. ; Mace, Georgina M. ; Purves, Drew W. ; Scharlemann, Jörn P. W. ; Pervis, Andy
Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species’ threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project – and avert – future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups – including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems – www.predicts.org.uk). We make site-level summary data available alongside this article. The full database will be publicly available in 2015.
Escott-Price, Valentina ; Bellenguez, Céline ; Wang, Li-San ; Choi, Seung-Hoan ; Harold, Denise ; Jones, Lesley ; Holmans, Peter ; Gerrish, Amy ; Vedernikov, Alexey ; Richards, Alexander ; DeStefano, Anita L. ; Lambert, Jean-Charles ; Ibrahim-Verbaas, Carla A. ; Naj, Adam C. ; Sims, Rebecca ; Jun, Gyungah ; Bis, Joshua C. ; Beecham, Gary W. ; Grenier-Boley, Benjamin ; Russo, Giancarlo ; Thornton-Wells, Tricia A. ; Denning, Nicola ; Smith, Albert V. ; Chouraki, Vincent ; Thomas, Charlene ; Ikram, M. Arfan ; Zelenika, Diana ; Vardarajan, Badri N. ; Kamatani, Yoichiro ; Lin, Chiao-Feng ; Schmidt, Helena ; Kunkle, Brian ; Dunstan, Melanie L. ; Vronskaya, Maria ; Johnson, Andrew D. ; Ruiz, Agustin ; Bihoreau, Marie-Thérèse ; Reitz, Christiane ; Pasquier, Florence ; Hollingworth, Paul ; Hanon, Olivier ; Fitzpatrick, Annette L. ; Buxbaum, Joseph D. ; Campion, Dominique ; Crane, Paul K. ; Baldwin, Clinton ; Becker, Tim ; Gudnason, Vilmundur ; Cruchaga, Carlos ; Craig, David ; Amin, Najaf ; Berr, Claudine ; Lopez, Oscar L. ; Jager, Philip L. De ; Deramecourt, Vincent ; Johnston, Janet A. ; Evans, Denis ; Lovestone, Simon ; Letenneur, Luc ; Hernández, Isabel ; Rubinsztein, David C. ; Eiriksdottir, Gudny ; Sleegers, Kristel ; Goate, Alison M. ; Fiévet, Nathalie ; Huentelman, Matthew J. ; Gill, Michael ; Brown, Kristelle ; Kamboh, M. Ilyas ; Keller, Lina ; Barberger-Gateau, Pascale ; McGuinness, Bernadette ; Larson, Eric B. ; Myers, Amanda J. ; Dufouil, Carole ; Todd, Stephen ; Wallon, David ; Love, Seth ; Rogaeva, Ekaterina ; Gallacher, John ; St George-Hyslop, Peter ; Clarimon, Jordi ; Lleo, Alberto ; Bayer, Anthony ; Tsuang, Debby W. ; Yu, Lei ; Tsolaki, Magda ; Bossù, Paola ; Spalletta, Gianfranco ; Proitsi, Petra ; Collinge, John ; Sorbi, Sandro ; Sanchez Garcia, Florentino ; Fox, Nick C. ; Hardy, John ; Deniz Naranjo, Maria Candida ; Bosco, Paolo ; Clarke, Robert ; Brayne, Carol ; Galimberti, Daniela ; Scarpini, Elio ; Bonuccelli, Ubaldo ; Mancuso, Michelangelo ; Siciliano, Gabriele ; Moebus, Susanne ; Mecocci, Patrizia ; Del Zompo, Maria ; Maier, Wolfgang ; Hampel, Harald ; Pilotto, Alberto ; Frank-García, Ana ; Panza, Francesco ; Solfrizzi, Vincenzo ; Caffarra, Paolo ; Nacmias, Benedetta ; Perry, William ; Mayhaus, Manuel ; Lannfelt, Lars ; Hakonarson, Hakon ; Pichler, Sabrina ; Carrasquillo, Minerva M. ; Ingelsson, Martin ; Beekly, Duane ; Alvarez, Victoria ; Zou, Fanggeng ; Valladares, Otto ; Younkin, Steven G. ; Coto, Eliecer ; Hamilton-Nelson, Kara L. ; Gu, Wei ; Razquin, Cristina ; Pastor, Pau ; Mateo, Ignacio ; Owen, Michael J. ; Faber, Kelley M. ; Jonsson, Palmi V. ; Combarros, Onofre ; O'Donovan, Michael C. ; Cantwell, Laura B. ; Soininen, Hilkka ; Blacker, Deborah ; Mead, Simon ; Mosley, Thomas H. ; Bennett, David A. ; Harris, Tamara B. ; Fratiglioni, Laura ; Holmes, Clive ; Bruijn, Renee F. A. G. de ; Passmore, Peter ; Montine, Thomas J. ; Bettens, Karolien ; Rotter, Jerome I. ; Brice, Alexis ; Morgan, Kevin ; Foroud, Tatiana M. ; Kukull, Walter A. ; Hannequin, Didier ; Powell, John F. ; Nalls, Michael A. ; Ritchie, Karen ; Lunetta, Kathryn L. ; Kauwe, John S. K. ; Boerwinkle, Eric ; Riemenschneider, Matthias ; Boada, Mercè ; Hiltunen, Mikko ; Martin, Eden R. ; Schmidt, Reinhold ; Rujescu, Dan ; Dartigues, Jean-François ; Mayeux, Richard ; Tzourio, Christophe ; Hofman, Albert ; Nöthen, Markus Maria ; Graff, Caroline ; Psaty, Bruce M. ; Haines, Jonathan L. ; Lathrop, Mark ; Pericak-Vance, Margaret Ann ; Launer, Lenore J. ; Broeckhoven, Christine Van ; Farrer, Lindsay A. ; Duijn, Cornelia M. van ; Ramirez, Alfredo ; Seshadri, Sudha ; Schellenberg, Gerard D. ; Amouyel, Philippe ; Williams, Julie
Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls.
Principal findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10−6) and 14 (IGHV1-67 p = 7.9×10−8) which indexed novel susceptibility loci.
Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
Cortese, Pietro ; Abelev, Betty ; Adam, Jaroslav ; Adamová, Dagmar ; Adare, A. M. ; Aggarwal, Madan Mohan ; Aglieri Rinella, Gianluca ; Agocs, A. G. ; Agostinelli, A. ; Aguilar Salazar, S. ; Ahammed, Zubayer ; Ahmad, Nazeer ; Ahmad Masoodi, A. ; Ahn, Sang Un ; Akindinov, Alexander ; Aleksandrov, Dmitry ; Alessandro, Bruno ; Alfaro Molina, Jose Ruben ; Alici, Andrea ; Alkin, Anton ; Almaraz Avina, E. ; Alme, Johan ; Alt, Torsten ; Altini, V. ; Altinpinar, Sedat ; Altsybeev, Igor ; Andrei, Cristian ; Andronic, Anton ; Anguelov, Venelin ; Anielski, Jonas ; Anson, Christopher Daniel ; Antičić, Tome ; Antinori, Federico ; Antonioli, Pietro ; Aphecetche, Laurent Bernard ; Appelshäuser, Harald ; Arbor, N. ; Arcelli, Silvia ; Arend, A. ; Armesto, Néstor ; Arnaldi, Roberta ; Aronsson, Tomas Robert ; Arsene, Ionut Cristian ; Arslandok, Mesut ; Asryan, A. ; Augustinus, Andre ; Averbeck, Ralf Peter ; Awes, T. C. ; Aysto, J. ; Azmi, Mohd Danish ; Bach, Matthias ; Badalà, Angela ; Baek, Yong Wook ; Bailhache, Raphaëlle ; Bala, Remu ; Baldini Ferroli, Rinaldo ; Baldisseri, Alberto ; Baldit, A. ; Baltasar Dos Santos Pedrosa, Fernando ; Ban, J. ; Baral, Rama Chandra ; Barbera, Roberto ; Barile, Francesco ; Barnaföldi, Gergely Gábor ; Barnby, Lee Stuart ; Barret, Valerie ; Bartke, Jerzy ; Basile, Maurizio ; Bastid, Nicole ; Basu, Sumit ; Bathen, Bastian ; Batigne, Guillaume ; Batyunya, Boris ; Baumann, C. ; Bearden, Ian Gardner ; Beck, Hans ; Belikov, Iouri ; Bellini, Francesca ; Bellwied, Rene ; Belmont-Moreno, Ernesto ; Bencédi, Gyula ; Beolè, Stefania ; Berceanu, Ionela ; Bercuci, Alexandru ; Berdnikov, Yaroslav ; Berényi, Dániel ; Berzano, Dario ; Betev, Latchezar ; Bhasin, Anju ; Bhati, Ashok Kumar ; Bhom, Jihyun ; Bianchi, Nicola ; Bianchi, Livio ; Bianchin, Chiara ; Bielčík, Jaroslav ; Bielčíková, Jana ; Bilandzic, Ante ; Bjelogrlic, Sandro ; Blanco, Fernando ; Blanco, Fernando ; Blau, Dmitry S. ; Blume, Christoph ; Boccioli, M. ; Bock, N. ; Bogdanov, Alexey A. ; Boggild, H. ; Bogolyubsky, M. ; Boldizsar, László ; Bombara, Marek ; Book, Julian ; Borel, Hervé ; Borissov, Alexander ; Bose, S. ; Bossú, Francesco ; Botje, Michiel ; Bottger, Stefan ; Boyer, B. ; Braidot, E. ; Braun-Munzinger, Peter ; Bregant, Marco ; Breitner, Timo ; Browning, Tyler Allen ; Broz, Michal ; Brun, René ; Bruna, Elena ; Bruno, Giuseppe Eugenio ; Budnikov, Dmitry ; Büsching, Henner ; Bufalino, Stefania ; Bugaiev, K. ; Busch, Oliver ; Buthelezi, Edith Zinhle ; Caballero Orduna, D. ; Caffarri, Davide ; Cai, Xiao ; Caines, Helen Louise ; Calvo Villar, Ernesto ; Camerini, Paolo ; Canoa Roman, Veronica ; Cara Romeo, G. ; Carena, Wisla ; Carena, Francesco ; Carlin Filho, N. ; Carminati, F. ; Carrillo Montoya, C. A. ; Casanova Diaz, A. ; Castillo Castellanos, Javier Ernesto ; Castillo Hernández, Juan Francisco ; Casula, E. A.R. ; Catanescu, V. ; Cavicchioli, Costanza ; Ceballos Sanchez, Cesar ; Čepila, Jan ; Cerello, Piergiorgio ; Chang, B. ; Chapeland, Sylvain ; Charvet, Jean-Luc Fernand ; Chattopadhyay, S. ; Chattopadhyay, S. ; Chawla, I. ; Cherney, Michael Gerard ; Cheshkov, Cvetan Valeriev ; Cheynis, Brigitte ; Chibante Barroso, Vasco Miguel ; Chinellato, David Dobrigkeit ; Chochula, Peter ; Chojnacki, Marek ; Choudhury, Subikash ; Christakoglou, Panagiotis ; Christensen, Christian Holm ; Christiansen, Peter L. ; Chujo, Tatsuya ; Chung, Suh-Urk ; Cicalò, Corrado ; Cifarelli, Luisa ; Cindolo, Federico ; Cleymans, Jean Willy Andre ; Coccetti, F. ; Colamaria, Fabio Filippo ; Colella, Domenico ; Conesa Balbastre, Gustavo ; Conesa Del Valle, Zaida ; Constantin, P. ; Contin, Giacomo ; Contreras Nuno, Jesus Guillermo ; Cormier, Thomas Michael ; Corrales Morales, Yasser ; Cortese, Pietro ; Cortes Maldonado, Ismael ; Cosentino, Mauro Rogerio ; Costa, Filippo ; Cotallo, M. E. ; Crescio, E. ; Crochet, Philippe ; Cruz Alaniz, E. ; Cuautle Flores, Eleazar ; Cunqueiro Mendez, Leticia ; Dainese, Andrea ; Dalsgaard, Hans Hjersing ; Danu, Andrea ; Das, K. ; Das, Indranil ; Das, Debasish ; Dash, Ajay Kumar ; Dash, Sadhana ; De, Sudipan ; De Barros, G. O.V. ; De Caro, Annalisa ; De Cataldo, Giacinto ; Cuveland, Jan de ; De Falco, Alessandro ; De Gruttola, Daniele ; Delagrange, H. ; Del Castillo Sanchez, E. ; Deloff, Andrzej ; Demanov, V. ; De Marco, Nora ; Denes, Ervin Sandor ; De Pasquale, Salvatore ; Deppman, A. ; Erasmo, G. D. ; De Rooij, R. ; Diaz Corchero, Miguel Angel ; Di Bari, Domenico ; Dietel, Thomas ; Di Giglio, C. ; Di Liberto, S. ; Di Mauro, Antonio ; Di Nezza, Pasquale ; Divià, Roberto ; Djuvsland, Øystein ; Dobrin, Alexandru Florin ; Dobrowolski, Tadeusz Antoni ; Dominguez, I. ; Donigus, Benjamin ; Dordic, Olja ; Driga, O. ; Dubey, Anand Kumar ; Ducroux, Laurent ; Dupieux, Pascal ; Dutta Majumdar, A. K. ; Dutta Majumdar, M. R. ; Elia, Domenico ; Emschermann, D. ; Engel, Heiko ; Erdal, H. A. ; Espagnon, Bruno ; Estienne, Magali Danielle ; Esumi, ShinIchi ; Evans, David ; Eyyubova, Gyulnara ; Fabris, Daniela ; Faivre, Julien ; Falchieri, D. ; Fantoni, Alessandra ; Fasel, Markus ; Fearick, R. ; Fedunov, A. ; Fehlker, D. ; Feldkamp, Linus ; Felea, Daniel ; Fenton-Olsen, B. ; Feofilov, Grigori A. ; Fernández Téllez, Arturo ; Ferretti, Alessandro ; Ferretti, R. ; Figiel, Jan ; Figueredo, M. A.S. ; Filchagin, Sergey ; Finogeev, Dmitry ; Fionda, Fiorella Maria Celeste ; Fiore, Enrichetta Maria ; Floris, Michele ; Foertsch, Siegfried Valentin ; Foka, Panagiota ; Fokin, Sergey ; Fragiacomo, Enrico ; Fragkiadakis, M. ; Frankenfeld, Ulrich ; Fuchs, Ulrich ; Furget, Christophe ; Fusco Girard, Mario ; Gaardhoje, J. J. ; Gagliardi, Martino ; Gago, A. ; Gallio, Mauro ; Gangadharan, Dhevan Raja ; Ganoti, Paraskevi ; Garabatos, Chilo ; Garcia-Solis, Edmundo Javier ; Garishvili, I. ; Gerhard, J. ; Germain, Marie ; Geuna, C. ; Gheata, Mihaela ; Gheata, Andrei George ; Ghidini, B. ; Ghosh, Premomoy ; Gianotti, Paola ; Girard, M. R. ; Giubellino, Paolo ; Gładysz-Dziaduś, Ewa ; Glässel, Peter ; Gomez, R. ; Gonzalez Ferreiro, Elena ; González Trueba, Laura Helena ; González Zamora, Pedro ; Gorbunov, Sergey ; Goswami, A. ; Gotovac, Sven ; Grabski, Varlen ; Graczykowski, Łukasz Kamil ; Grajcarek, R. ; Grelli, Alessandro ; Grigoraș, Costin ; Grigoras, Alina Gabriela ; Grigoriev, Vladislav A. ; Grigoryan, Smbat ; Grigoryan, Ara ; Grinyov, Boris V. ; Grion, Nevio ; Gros, P. ; Große-Oetringhaus, Jan Fiete ; Grossiord, J. Y. ; Grosso, Raffaele ; Guber, Fedor ; Guernane, Rachid ; Guerra Gutierrez, C. ; Guerzoni, Barbara ; Guilbaud, Maxime Rene Joseph ; Gulbrandsen, Kristjan Herlache ; Gunji, Taku ; Gupta, Ramni ; Gupta, Anik ; Gutbrod, H. ; Haaland, Øystein Senneset ; Hadjidakis, Cynthia Marie ; Haiduc, Maria ; Hamagaki, Hideki ; Hamar, Gergö ; Han, B. H. ; Hanratty, Luke David ; Hansen, Alexander ; Harmanova, Z. ; Harris, John W. ; Hartig, M. ; Hasegan, D. ; Hatzifotiadou, Despina ; Hayrapetyan, A. ; Heckel, Stefan Thomas ; Heide, Markus ; Helstrup, Håvard ; Herghelegiu, Andrei Ionut ; Herrera Corral, Gerardo Antonio ; Herrmann, Norbert ; Hetland, Kristin Fanebust ; Hicks, B. ; Hille, P. T. ; Hippolyte, Boris ; Horaguchi, T. ; Hori, Y. ; Hristov, Peter ; Hřivnačova, I. ; Huang, M. ; Humanic, Thomas J. ; Hwang, Dae Sung ; Ichou, R. ; Ilkaev, Radiy ; Ilkiv, Iryna ; Inaba, Motoi ; Incani, E. ; Innocenti, P. G. ; Innocenti, G. M. ; Ippolitov, Mikhail ; Irfan, M. ; Ivan, C. ; Ivanov, V. ; Ivanov, A. ; Ivanov, Marian ; Ivanytskyi, O. ; Jacholkowski, Adam Wlodzimierz ; Jacobs, Peter Martin ; Jancurova, L. ; Jang, Haeng Jin ; Jangal, S. ; Janik, R. ; Janik, Malgorzata Anna ; Jayarathna, P. H.S.Y. ; Jena, Satyajit ; Jha, D. M. ; Jiménez Bustamante, Raúl Tonatiuh ; Jirden, L. ; Jones, Peter Graham ; Jung, H. ; Jusko, Anton ; Kaidalov, A. B. ; Kakoyan, V. ; Kalcher, S. ; Kaliňak, Peter ; Kalisky, M. ; Kalliokoski, T. ; Kalweit, Alexander Philipp ; Kanaki, K. ; Kang, Ju Hwan ; Kaplin, Vladimir ; Karasu Uysal, Ayben ; Karavichev, Oleg V. ; Karavicheva, Tatiana L. ; Karpechev, Evgeny ; Kazantsev, Andrey ; Kebschull, Udo ; Keidel, Ralf ; Khan, M. M. ; Khan, Shuaib Ahmad ; Khanzadeev, Alexei ; Kharlov, Yury ; Kileng, Bjarte ; Kim, J. S. ; Kim, D. W. ; Kim, S. H. ; Kim, J. H. ; Kim, M. ; Kim, D. J. ; Kim, B. ; Kim, T. ; Kim, S. ; Kirsch, Stefan ; Kisel, Ivan ; Kiselev, Sergej N. ; Kisiel, Adam Ryszard ; Klay, Jennifer Lynn ; Klein, Jochen ; Klein-Bösing, Christian ; Kliemant, Michael ; Kluge, Alexander ; Knichel, Michael Linus ; Knospe, Anders Garritt ; Koch, K. ; Köhler, Markus Konrad ; Kolojvari, Anatoly ; Kondratiev, Valery P. ; Kondratyeva, Natalia ; Konevskikh, Artem ; Korneev, A. ; Kour, R. ; Kowalski, Marek ; Kox, Serge ; Koyithatta Meethaleveedu, Greeshma ; Kral, Jiří ; Králik, Ivan ; Kramer, F. ; Kraus, Ingrid ; Krawutschke, T. ; Křelina, Michal ; Kretz, Matthias ; Krivda, Marian ; Krizek, Filip ; Krus, M. ; Kryshen, Evgeny ; Krzewicki, Mikolaj ; Kucheriaev, Yury ; Kuhn, Christian Claude ; Kuijer, Paulus Gerardus ; Kurashvili, Podist ; Kurepin, Alexander ; Kurepin, Alexey B. ; Kuryakin, Alexey ; Kushpil, V. ; Kushpil, Svetlana ; Kvaerno, H. ; Kweon, Min Jung ; Kwon, Youngil ; Ladron de Guevara, Pedro ; Lakomov, Igor ; Langoy, Rune ; La Pointe, Sarah Louise ; Lara Martinez, Camilo Ernesto ; Lardeux, Antoine Xavier ; La Rocca, Paola ; Lazzeroni, C. ; Lea, Ramona ; Le Bornec, Y. ; Lechman, M. ; Lee, S. C. ; Lee, K. S. ; Lefevre, F. ; Lehnert, Jörg ; Leistam, L. ; Lenhardt, M. ; Lenti, Vito ; Leon, H. ; Leon Monzon, Ildefonso ; Leon Vargas, H. ; Lévai, Péter ; Lien, Jørgen André ; Lietava, Roman ; Lindal, Svein ; Lindenstruth, Volker ; Lippmann, Christian ; Lisa, Michael A. ; Liu, L. ; Lønne, Per-Ivar ; Loggins, Vera Renee ; Loginov, Vitaly ; Lohn, S. ; Lohner, D. ; Loizides, Constantinos ; Loo, K. K. ; Lopez, Xavier Bernard ; López Torres, Ernesto ; Lovhoiden, G. ; Lu, X. G. ; Lüttig, Philipp ; Lunardon, Marcello ; Luo, J. ; Luparello, Grazia ; Luquin, L. ; Luzzi, C. ; Ma, R. ; Ma, K. ; Madagodahettige-Don, D. M. ; Maevskaya, Alla ; Mager, Magnus ; Mahapatra, D. P. ; Maire, Antonin ; Malaev, Mikhail ; Maldonado Cervantes, Ivonne Alicia ; Malinina, Liudmila ; Mal’Kevich, Dmitry ; Malzacher, Peter ; Mamonov, Alexander ; Manceau, Loic Henri Antoine ; Mangotra, L. ; Manko, Vladislav ; Manso, Franck ; Manzari, Vito ; Mao, Yaxian ; Marchisone, Massimiliano ; Mareš, Jiří ; Margagliotti, Giacomo Vito ; Margotti, Anselmo ; Marin, Ana ; Marin Tobon, C. A. ; Markert, Christina ; Martashvili, Irakli ; Martinengo, Paolo ; Martínez Hernández, Mario Iván ; Martinez Davalos, A. ; Martínez Garcia, Ginés ; Martynov, Yevgen ; Mas, Alexis Jean-Michel ; Masciocchi, Silvia ; Masera, Massimo ; Masoni, Alberto ; Massacrier, Laure Marie ; Mastromarco, Mario ; Mastroserio, Annalisa ; Matthews, Z. L. ; Matyja, Adam Tomasz ; Mayani, D. ; Mayer, Christoph ; Mazer, Joel Anthony ; Mazzoni, Alessandra Maria ; Meddi, Franco ; Menchaca-Rocha, Arturo Alejandro ; Mercado Pérez, Jorge ; Meres, Michal ; Miake, Yasuo ; Milano, Leonardo ; Milošević, Jovan ; Mischke, André ; Mishra, Aditya Nath ; Miśkowiec, Dariusz Czesław ; Mitu, C. ; Mlynarz, J. ; Mohanty, A. K. ; Mohanty, Bedangadas ; Molnar, Levente ; Montaño Zetina, Luis Manuel ; Monteno, M. ; Montes Prado, Esther ; Moon, T. ; Morando, Maurizio ; Godoy, Denise Aparecida Moreira de ; Moretto, Sandra ; Morsch, Andreas ; Muccifora, Valeria ; Mudnic, Eugen ; Muhuri, Sanjib ; Mukherjee, Maitreyee ; Muller, H. ; Munhoz, Marcelo Gameiro ; Musa, Luciano ; Musso, A. ; Nandi, Basanta Kumar ; Nania, Rosario ; Nappi, Eugenio ; Nattrass, Christine ; Naumov, N. P. ; Navin, S. ; Nayak, Tapan Kumar ; Nazarenko, Sergey ; Nazarov, G. ; Nedosekin, Alexander ; Nicassio, Maria ; Nielsen, Borge Svane ; Niida, Takafumi ; Nikolaev, Sergey ; Nikolic, V. ; Nikulin, Vladimir ; Nikulin, Sergey ; Nilsen, B. S. ; Nilsson, M. S. ; Noferini, Francesco ; Nomokonov, Petr V. ; Nooren, Gerardus ; Novitzky, Norbert ; Nyanin, Alexander ; Nyatha, A. ; Nygaard, C. ; Nystrand, Joakim Ingemar ; Ochirov, A. ; Oeschler, Helmut ; Oh, S. ; Oh, Sun Kun ; Oleniacz, Janusz ; Oppedisano, Chiara ; Ortiz Velasquez, Antonio ; Ortona, G. ; Oskarsson, Anders Nils Erik ; Ostrowski, P. ; Otwinowski, Jacek Tomasz ; Oyama, Ken ; Ozawa, K. ; Pachmayer, Yvonne C. ; Pachr, Miloš ; Padilla, F. ; Pagano, Paola ; Paić, Guy ; Painke, F. ; Pajares Vales, Carlos ; Pal, Susanta Kumar ; Pal, S. ; Palaha, A. ; Palmeri, A. ; Papikyan, Vardanush ; Pappalardo, Giuseppe Salvatore ; Park, WooJin ; Passfeld, Annika ; Pastirčak, B. ; Patalakha, D. I. ; Paticchio, Vincenzo ; Pavlinov, A. ; Pawlak, Tomasz Jan ; Peitzmann, Thomas ; Pereira da Costa, Hugo Denis Antonio ; De Oliveira Filho, E. Pereira ; Peresunko, Dmitry Yurevich ; Pérez Lara, Carlos Eugenio ; Pérez Lezama, Edgar ; Perini, D. ; Perrino, D. ; Peryt, Wiktor Stanislaw ; Pesci, A. ; Peskov, Vladimir ; Pestov, Yury N. ; Petráček, Vojtech ; Petran, M. ; Petris, M. ; Petrov, P. ; Petrovici, Mihai A. ; Petta, Catia ; Piano, Stefano ; Piccotti, A. ; Pikna, Miroslav ; Pillot, Philippe ; Pinazza, Ombretta ; Pinsky, Lawrence ; Pitz, N. ; Piyarathna, Danthasinghe B. ; Płoskoń, Mateusz ; Pluta, Jan Marian ; Pocheptsov, T. ; Pochybova, Sona ; Podesta Lerma, P. L.M. ; Poghosyan, Martin G. ; Polak, K. ; Polichtchouk, Boris ; Pop, Amalia ; Porteboeuf-Houssais, Sarah Julie ; Pospišil, V. ; Potukuchi, B. ; Prasad, Sidharth Kumar ; Preghenella, Roberto ; Prino, Francesco ; Pruneau, Claude A. ; Pshenichnov, Igor A. ; Puchagin, S. ; Puddu, Giovanna ; Pujol Teixido, J. ; Pulvirenti, A. ; Punin, Valery ; Putiš, M. ; Putschke, Jörn H. ; Quercigh, E. ; Qvigstad, Henrik ; Rachevski, Alexandre ; Rademakers, A. ; Radomski, S. ; Raiha, T. S. ; Rak, Jan ; Rakotozafindrabe, Andry Malala ; Ramello, Luciano ; Ramirez Reyes, A. ; Raniwala, Rashmi ; Raniwala, Sudhir ; Räsänen, Sami Sakari ; Rascanu, Bogdan Theodor ; Rathee, Deepika ; Read, Kenneth Francis ; Real, Jean-Sébastien ; Redlich, Krzysztof ; Reichelt, Patrick ; Reicher, Martijn ; Renfordt, Rainer Arno Ernst ; Reolon, Anna Rita ; Reshetin, Andrey ; Rettig, Felix Vincenz ; Revol, J. P. ; Reygers, Klaus ; Riccati, L. ; Ricci, Renato Angelo ; Richert, Tuva Ora Herenui ; Richter, Matthias ; Riedler, Petra ; Riegler, Werner ; Riggi, Francesco ; Rabacal, B. Rodrigues Fernandes ; Cahuantzi, M. Rodriguez ; Manso, A. Rodriguez ; Røed, Ketil ; Rohr, David ; Röhrich, Dieter ; Romita, Rosa ; Ronchetti, Federico ; Rosnet, Philippe ; Rossegger, S. ; Rossi, Andrea ; Roukoutakis, Filimon ; Roy, Pradip Kumar ; Roy, Christelle Sophie ; Rubio Montero, Antonio Juan ; Rui, Rinaldo ; Ryabinkin, Evgeny ; Rybicki, Andrzej ; Sadovskiy, Sergey ; Šafařík, Karel ; Sahoo, Raghunath ; Sahu, Pradip Kumar ; Saini, Jogender ; Sakaguchi, H. ; Sakai, Shingo ; Sakata, D. ; Salgado, Carlos A. ; Salzwedel, Jai ; Sambyal, Sanjeev Singh ; Samsonov, Vladimir ; Sanchez Castro, Xitzel ; Šándor, Ladislav ; Sandoval, Andres ; Sano, S. ; Sano, Masato ; Santo, R. ; Santoro, R. ; Sarkamo, J. ; Scapparone, Eugenio ; Scarlassara, Fernando ; Scharenberg, Rolf Paul ; Schiaua, Claudiu Cornel ; Schicker, Rainer ; Schmidt, Christian Joachim ; Schmidt, Hans Rudolf ; Schreiner, S. ; Schuchmann, Simone ; Schukraft, Jürgen ; Schutz, Yves Roland ; Schwarz, Kilian ; Schweda, Kai ; Scioli, Gilda ; Scomparin, Enrico ; Scott, Rebecca Michelle ; Scott, P. A. ; Segato, G. ; Selyuzhenkov, Ilya ; Senyukov, Serhiy ; Seo, Jeewon ; Serci, S. ; Serradilla, Eulogio ; Sevcenco, Adrian ; Sgura, I. ; Shabetai, Alexandre ; Shabratova, G. ; Shahoyan, Ruben ; Sharma, Natasha ; Sharma, S. ; Shigaki, Kenta ; Shimomura, Maya ; Shtejer, Katherin ; Sibiriak, Yury ; Siciliano, M. ; Sicking, E. ; Siddhanta, Sabyasachi ; Siemiarczuk, Teodor ; Silvermyr, David Olle Rickard ; Silvestre, Catherine Micaela ; Simonetti, Giuseppe ; Singaraju, Rama Narayana ; Singh, R. ; Singha, Subhash ; Sinha, Bikash ; Sinha, Tinku ; Sitar, Branislav ; Sitta, Mario ; Skaali, Toralf Bernhard ; Skjerdal, K. ; Smakal, R. ; Smirnov, N. ; Snellings, Raimond ; Sogaard, C. ; Soltz, Ron ; Son, H. ; Song, M. ; Song, J. ; Soos, C. ; Soramel, Francesca ; Sputowska, Iwona Anna ; Spyropoulou-Stassinaki, Martha ; Srivastava, Brijesh Kumar ; Stachel, Johanna ; Stan, Ionel ; Stan, Ionel ; Stefanek, Grzegorz ; Steinbeck, T. ; Steinpreis, M. ; Stenlund, Evert Anders ; Steyn, Gideon Francois ; Stiller, Johannes Hendrik ; Stocco, Diego ; Stolpovskiy, M. ; Strabykin, K. ; Strmen, Peter ; Suaide, A. A.P. ; Subieta Vasquez, Martin Alfonso ; Sugitate, Toru ; Suire, Christophe Pierre ; Sukhorukov, M. ; Sultanov, Rishat ; Šumbera, Michal ; Šuša, Tatjana ; De Toledo, A. Szanto ; Szarka, Imrich ; Szostak, A. ; Tagridis, C. ; Takahashi, Jun ; Tapia Takaki, Jesus Daniel ; Tauro, Arturo ; Tejeda Muñoz, Guillermo ; Telesca, Adriana ; Terrevoli, Cristina ; Thäder, Jochen ; Thomas, Deepa ; Tieulent, Raphael Noel ; Timmins, Anthony Robert ; Tlusty, David ; Toia, Alberica ; Torii, H. ; Toscano, L. ; Truesdale, David Christopher ; Trzaska, Wladyslaw Henryk ; Tsuji, Tomoya ; Tumkin, Alexandr ; Turrisi, Rosario ; Tveter, Trine Spedstad ; Ulery, Jason Glyndwr ; Ullaland, Kjetil ; Ulrich, Jiri ; Uras, Antonio ; Urban, J. ; Urciuoli, G. M. ; Usai, Gianluca ; Vajzer, Michal ; Vala, Martin ; Valencia Palomo, Lizardo ; Vallero, Sara ; Kolk, Naomi van der ; Vyvre, Pierre vande ; Leeuwen, Marco van ; Vannucci, L. ; Vargas Treviño, Maria Aurora Diozcora ; Varma, Raghava ; Vasileiou, Maria ; Vasiliev, Andrey ; Vechernin, Vladimir ; Veldhoen, Misha ; Venaruzzo, Massimo ; Vercellin, Ermanno ; Vergara, S. ; Vernet, Renaud ; Verweij, Marta ; Vicković, Linda ; Viesti, Giuseppe ; Vikhlyantsev, O. ; Vilakazi, Zabulon ; Villalobos Baillie, Orlando ; Vinogradov, Alexander A. ; Vinogradov, Leonid ; Vinogradov, Yury I. ; Virgili, Tiziano ; Viyogi, Yogendra P. ; Vodopyanov, Alexander ; Voloshin, Sergei ; Voloshin, Kirill ; Volpe, Giacomo ; Haller, Barthélémy von ; Vranić, Danilo ; Ovrebekk, G. ; Vrlakova, Janka ; Vulpescu, Bogdan ; Vyushin, Alexey ; Wagner, Boris ; Wagner, V. ; Wan, R. ; Wang, Y. ; Wang, D. ; Wang, Y. ; Wang, M. ; Watanabe, K. ; Wessels, Johannes P. ; Westerhoff, Uwe ; Wiechula, Jens ; Wikne, Jon ; Wilde, Martin ; Wilk, Grzegorz Andrzej ; Wilk, A. ; Williams, M. C.S. ; Windelband, Bernd ; Karampatsos, L. Xaplanteris ; Yaldo, Chris G. ; Yang, H. ; Yang, S. ; Yasnopolskiy, S. ; Yi, J. ; Yin, Zhongbao ; Yoo, In-Kwon ; Yoon, J. ; Yu, W. ; Yuan, X. ; Yushmanov, Igor E. ; Zach, C. ; Zampolli, Chiara ; Zaporozhets, Sergey ; Zarochentsev, Andrey ; Závada, Petr ; Zaviyalov, Nikolaj ; Zbroszczyk, Hanna Paulina ; Zelnicek, P. ; Zgura, Ion-Sorin ; Zhalov, Mikhail ; Zhang, H. ; Zhang, X. ; Zhou, D. ; Zhou, F. ; Zhou, Y. ; Zhu, X. ; Zhu, J. ; Zhu, J. ; Zichichi, Antonino ; Zimmermann, Alice ; Zinovjev, Gennady M. ; Zoccarato, Y. ; Zynovyev, M.
The ALICE Zero Degree Calorimeter system (ZDC) is composed of two identical sets of calorimeters, placed at opposite sides with respect to the interaction point, 114 meters away from it, complemented by two small forward electromagnetic calorimeters (ZEM). Each set of detectors consists of a neutron (ZN) and a proton (ZP) ZDC. They are placed at zero degrees with respect to the LHC axis and allow to detect particles emitted close to beam direction, in particular neutrons and protons emerging from hadronic heavy-ion collisions (spectator nucleons) and those emitted from electromagnetic processes. For neutrons emitted by these two processes, the ZN calorimeters have nearly 100% acceptance.
During the √sNN = 2.76 TeV Pb-Pb data-taking, the ALICE Collaboration studied forward neutron emission with a dedicated trigger, requiring a minimum energy deposition in at least one of the two ZN. By exploiting also the information of the two ZEM calorimeters it has been possible to separate the contributions of electromagnetic and hadronic processes and to study single neutron vs. multiple neutron emission.
The measured cross sections of single and mutual electromagnetic dissociation of Pb nuclei at √sNN = 2.76 TeV, with neutron emission, are σsingle EMD = 187:4 ± 0.2 (stat.)−11.2+13.2 (syst.) b and σmutual EMD = 5.7 ± 0.1 (stat.) ±0.4 (syst.) b, respectively [1]. This is the first measurement of electromagnetic dissociation of 208Pb nuclei at the LHC energies, allowing a test of electromagnetic dissociation theory in a new energy regime. The experimental results are compared to the predictions from a relativistic electromagnetic dissociation model.
Casey, Jillian P. ; Magalhães, Tiago R. ; Conroy, Judith M. ; Regan, Regina ; Shah, Naisha ; Anney, Richard ; Shields, Denis C. ; Abrahams, Brett S. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Cali, Phil ; Correia, Catarina ; Corsello, Christina ; Coutanche, Marc ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Foley, Suzanne ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Lamb, Janine A. ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lord, Catherine ; Lund, Sabata C. ; Maestrini, Elena ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Merikangas, Alison ; Miller, Judith ; Minopoli, Fiorella ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Nygren, Gudrun ; Oliveira, Guiomar ; Pagnamenta, Alistair T. ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Pickles, Andrew ; Pinto, Dalila ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Ragoussis, Jiannis ; Roge, Bernadette ; Rutter, Michael L. ; Sequeira, Ana F. ; Soorya, Latha ; Sousa, Inês ; Sykes, Nuala ; Stoppioni, Vera ; Tancredi, Raffaella ; Tauber, Maïté ; Thompson, Ann P. ; Thomson, Susanne ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Vorstman, Jacob A. S. ; Wallace, Simon ; Wang, Kai ; Wassink, Thomas H. ; White, Kathy ; Wing, Kirsty ; Wittemeyer, Kerstin ; Yaspan, Brian L. ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Geschwind, Daniel H. ; Haines, Jonathan L. ; Hallmayer, Joachim ; Monaco, Anthony P. ; Nurnberger, John I. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Green, Andrew ; Gill, Michael ; Gallagher, Louise ; Vicente, Astrid M. ; Ennis, Sean
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
Anney, Richard ; Klei, Lambertus ; Pinto, Dalila ; Regan, Regina ; Conroy, Judith ; Magalhães, Tiago R. ; Correia, Catarina ; Abrahams, Brett S. ; Sykes, Nuala ; Pagnamenta, Alistair T. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Brian, Jessica ; Carson, Andrew R. ; Casallo, Guillermo ; Casey, Jillian ; Chu, Su H. ; Cochrane, Lynne ; Corsello, Christina ; Crawford, Emily L. ; Crossett, Andrew ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Drmic, Irene ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Heron, Elizabeth A. ; Hill, Matthew ; Holt, Richard ; Howe, Jennifer L. ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Lamb, Janine A. ; Laskawiec, Magdalena ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lionel, Anath C. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Lund, Sabata C. ; Maestrini, Elena ; Mahoney, William ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Melhem, Nadine M. ; Merikangas, Alison ; Migita, Ohsuke ; Minshew, Nancy J. ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Oliveira, Guiomar ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Paton, Tara ; Pickles, Andrew ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Prasad, Aparna ; Ragoussis, Jiannis ; Renshaw, Katy ; Rickaby, Jessica ; Roberts, Wendy ; Roeder, Kathryn ; Roge, Bernadette ; Rutter, Michael L. ; Bierut, Laura Jean ; Rice, John P. ; Salt, Jeff ; Sansom, Katherine ; Sato, Daisuke ; Segurado, Ricardo ; Senman, Lili ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Sousa, Inês ; Stoppioni, Vera ; Strawbridge, Christina ; Tancredi, Raffaella ; Tansey, Katherine ; Thiruvahindrapduram, Bhooma ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Wallace, Simon ; Wang, Kai ; Wang, Zhouzhi ; Wassink, Thomas H. ; Wing, Kirsty ; Wittemeyer, Kerstin ; Wood, Shawn ; Yaspan, Brian L. ; Zurawiecki, Danielle ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Gallagher, Louise ; Geschwind, Daniel H. ; Gill, Michael ; Haines, Jonathan L. ; Miller, Judith ; Monaco, Anthony P. ; Nurnberger, John I. ; Paterson, Andrew D. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vicente, Astrid M. ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Devlin, Bernie ; Ennis, Sean ; Hallmayer, Joachim
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.