TY - JOUR A1 - Hudson, Lawrence N. A1 - Newbold, Tim A1 - Contu, Sara A1 - Hill, Samantha L. L. A1 - Lysenko, Igor A1 - De Palma, Adriana A1 - Phillips, Helen R. P. A1 - Senior, Rebecca A. A1 - Bennett, Dominic J. A1 - Booth, Hollie A1 - Choimes, Argyrios A1 - Correia, David L. P. A1 - Day, Julie A1 - Echeverria-Londono, Susy A1 - Garon, Morgan A1 - Harrison, Michelle L. K. A1 - Ingram, Daniel J. A1 - Jung, Martin A1 - Kemp, Victoria A1 - Kirkpatrick, Lucinda A1 - Martin, Callum D. A1 - Pan, Yuan A1 - White, Hannah J. A1 - Aben, Job A1 - Abrahamczyk, Stefan A1 - Adum, Gilbert B. A1 - Aguilar-Barquero, Virginia A1 - Aizen, Marcelo A1 - Ancrenaz, Marc A1 - Arbelaez-Cortes, Enrique A1 - Armbrecht, Inge A1 - Azhar, Badrul A1 - Azpiroz, Adrian B. A1 - Baeten, Lander A1 - Báldi, András A1 - Banks, John E. A1 - Barlow, Jos A1 - Batáry, Péter A1 - Bates, Adam J. A1 - Bayne, Erin M. A1 - Beja, Pedro A1 - Berg, Ake A1 - Berry, Nicholas J. A1 - Bicknell, Jake E. A1 - Bihn, Jochen H. A1 - Böhning-Gaese, Katrin A1 - Boekhout, Teun A1 - Boutin, Celine A1 - Bouyer, Jeremy A1 - Brearley, Francis Q. A1 - Brito, Isabel A1 - Brunet, Jörg A1 - Buczkowski, Grzegorz A1 - Buscardo, Erika A1 - Cabra-Garcia, Jimmy A1 - Calvino-Cancela, Maria A1 - Cameron, Sydney A. A1 - Cancello, Eliana M. A1 - Carrijo, Tiago F. A1 - Carvalho, Anelena L. A1 - Castro, Helena A1 - Castro-Luna, Alejandro A. A1 - Cerda, Rolando A1 - Cerezo, Alexis A1 - Chauvat, Matthieu A1 - Clarke, Frank M. A1 - Cleary, Daniel F. R. A1 - Connop, Stuart P. A1 - D'Aniello, Biagio A1 - da Silva, Pedro Giovani A1 - Darvill, Ben A1 - Dauber, Jens A1 - Dejean, Alain A1 - Diekötter, Tim A1 - Dominguez-Haydar, Yamileth A1 - Dormann, Carsten F. A1 - Dumont, Bertrand A1 - Dures, Simon G. A1 - Dynesius, Mats A1 - Edenius, Lars A1 - Elek, Zoltán A1 - Entling, Martin H. A1 - Farwig, Nina A1 - Fayle, Tom M. A1 - Felicioli, Antonio A1 - Felton, Annika M. A1 - Ficetola, Gentile F. A1 - Filgueiras, Bruno K. C. A1 - Fonte, Steve J. A1 - Fraser, Lauchlan H. A1 - Fukuda, Daisuke A1 - Furlani, Dario A1 - Ganzhorn, Jörg U. A1 - Garden, Jenni G. A1 - Gheler-Costa, Carla A1 - Giordani, Paolo A1 - Giordano, Simonetta A1 - Gottschalk, Marco S. A1 - Goulson, Dave A1 - Gove, Aaron D. A1 - Grogan, James A1 - Hanley, Mick E. A1 - Hanson, Thor A1 - Hashim, Nor R. A1 - Hawes, Joseph E. A1 - Hébert, Christian A1 - Helden, Alvin J. A1 - Henden, John-André A1 - Hernández, Lionel A1 - Herzog, Felix A1 - Higuera-Diaz, Diego A1 - Hilje, Branko A1 - Horgan, Finbarr G. A1 - Horváth, Roland A1 - Hylander, Kristoffer A1 - Horváth, Roland A1 - Isaacs-Cubides, Paola A1 - Ishitani, Mashiro A1 - Jacobs, Carmen T. A1 - Jaramillo, Victor J. A1 - Jauker, Birgit A1 - Jonsell, Matts A1 - Jung, Thomas S. A1 - Kapoor, Vena A1 - Kati, Vassiliki A1 - Katovai, Eric A1 - Kessler, Michael A1 - Knop, Eva A1 - Kolb, Annette A1 - Körösi, Àdám A1 - Lachat, Thibault A1 - Lantschner, Victoria A1 - Le Féon, Violette A1 - LeBuhn, Gretchen A1 - Légaré, Jean-Philippe A1 - Letcher, Susan G. A1 - Littlewood, Nick A. A1 - López-Quintero, Carlos A. A1 - Louhaichi, Mounir A1 - Lövei, Gabor L. A1 - Lucas-Borja, Manuel Esteban A1 - Luja, Victor H. A1 - Maeto, Kaoru A1 - Magura, Tibor A1 - Mallari, Neil Aldrin A1 - Marin-Spiotta, Erika A1 - Marhall, E. J. P. A1 - Martínez, Eliana A1 - Mayfield, Margaret M. A1 - Mikusinski, Gregorz A1 - Milder, Jeffery C. A1 - Miller, James R. A1 - Morales, Carolina L. A1 - Muchane, Mary N. A1 - Muchane, Muchai A1 - Naidoo, Robin A1 - Nakamura, Akihiro A1 - Naoe, Shoji A1 - Nates-Parra, Guiomar A1 - Navarerete Gutierrez, Dario A. A1 - Neuschulz, Eike L. A1 - Noreika, Norbertas A1 - Norfolk, Olivia A1 - Noriega, Jorge Ari A1 - Nöske, Nicole M. A1 - O'Dea, Niall A1 - Oduro, William A1 - Ofori-Boateng, Caleb A1 - Oke, Chris O. A1 - Osgathorpe, Lynne M. A1 - Paritsis, Juan A1 - Parrah, Alejandro A1 - Pelegrin, Nicolás A1 - Peres, Carlos A. A1 - Persson, Anna S. A1 - Petanidou, Theodora A1 - Phalan, Ben A1 - Philips, T. Keith A1 - Poveda, Katja A1 - Power, Eileen F. A1 - Presley, Steven J. A1 - Proença, Vânia A1 - Quaranta, Marino A1 - Quintero, Carolina A1 - Redpath-Downing, Nicola A. A1 - Reid, J. Leighton A1 - Reis, Yana T. A1 - Ribeiro, Danilo B. A1 - Richardson, Barbara A. A1 - Richardson, Michael J. A1 - Robles, Carolina A. A1 - Römbke, Jörg A1 - Romero-Duque, Luz Piedad A1 - Rosselli, Loreta A1 - Rossiter, Stephen J. A1 - Roulston, T'ai H. A1 - Rousseau, Laurent A1 - Sadler, Jonathan P. A1 - Sáfián, Szbolcs A1 - Saldaña-Vásquez, Romeo A. A1 - Samnegård, Ulrika A1 - Schüepp, Christof A1 - Schweiger, Oliver A1 - Sedlock, Jodi L. A1 - Shahabuddin, Ghazala A1 - Sheil, Douglas A1 - Silva, Fernando A. B. A1 - Slade, Eleanor A1 - Smith-Pardo, Allan H. A1 - Sodhi, Navjot S. A1 - Somarriba, Eduardo J. A1 - Sosa, Ramón A. A1 - Stout, Jane C. A1 - Struebig, Matthew J. A1 - Sung, Yik-Hei A1 - Threlfall, Caragh G. A1 - Tonietto, Rebecca A1 - Tóthmérész, Béla A1 - Tscharntke, Teja A1 - Turner, Edgar C. A1 - Tylianakis, Jason M. A1 - Vanbergen, Adam J. A1 - Vassilev, Kiril A1 - Verboven, Hans A. F. A1 - Vergara, Carlos H. A1 - Vergara, Pablo M. A1 - Verhulst, Jort A1 - Walker, Tony R. A1 - Wang, Yanping A1 - Watling, James I. A1 - Wells, Konstans A1 - Williams, Christopher D. A1 - Willig, Michael R. A1 - Woinarski, John C. Z. A1 - Wolf, Jan H. D. A1 - Woodcock, Ben A. A1 - Yu, Douglas W. A1 - Zailsev, Andreys A1 - Collen, Ben A1 - Ewers, Rob M. A1 - Mace, Georgina M. A1 - Purves, Drew W. A1 - Scharlemann, Jörn P. W. A1 - Pervis, Andy T1 - The PREDICTS database: a global database of how local terrestrial biodiversity responds to human impacts JF - Ecology and Evolution N2 - 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 - ). We make site-level summary data available alongside this article. The full database will be publicly available in 2015. KW - urban-rural gradient KW - instensively managed farmland KW - Mexican coffee plantations KW - Bombus Spp. Hymenoptera KW - bumblebee nest density KW - data sharing KW - land use KW - habitat destruction KW - global change KW - land-use change KW - plant community composition KW - Northeastern Costa Rica KW - dung beetle coleoptera KW - bird species richness Y1 - 2014 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-114425 VL - 4 IS - 24 ER - TY - JOUR A1 - Davis, Lea K. A1 - Yu, Dongmei A1 - Keenan, Clare L. A1 - Gamazon, Eric R. A1 - Konkashbaev, Anuar I. A1 - Derks, Eske M. A1 - Neale, Benjamin M. A1 - Yang, Jian A1 - Lee, S. Hong A1 - Evans, Patrick A1 - Barr, Cathy L. A1 - Bellodi, Laura A1 - Benarroch, Fortu A1 - Berrio, Gabriel Bedoya A1 - Bienvenu, Oscar J. A1 - Bloch, Michael H. A1 - Blom, Rianne M. A1 - Bruun, Ruth D. A1 - Budman, Cathy L. A1 - Camarena, Beatriz A1 - Campbell, Desmond A1 - Cappi, Carolina A1 - Cardona Silgado, Julio C. A1 - Cath, Danielle C. A1 - Cavallini, Maria C. A1 - Chavira, Denise A. A1 - Chouinard, Sylvian A1 - Conti, David V. A1 - Cook, Edwin H. A1 - Coric, Vladimir A1 - Cullen, Bernadette A. A1 - Deforce, Dieter A1 - Delorme, Richard A1 - Dion, Yves A1 - Edlund, Christopher K. A1 - Egberts, Karin A1 - Falkai, Peter A1 - Fernandez, Thomas V. A1 - Gallagher, Patience J. A1 - Garrido, Helena A1 - Geller, Daniel A1 - Girard, Simon L. A1 - Grabe, Hans J. A1 - Grados, Marco A. A1 - Greenberg, Benjamin D. A1 - Gross-Tsur, Varda A1 - Haddad, Stephen A1 - Heiman, Gary A. A1 - Hemmings, Sian M. J. A1 - Hounie, Ana G. A1 - Illmann, Cornelia A1 - Jankovic, Joseph A1 - Jenike, Micheal A. A1 - Kennedy, James L. A1 - King, Robert A. A1 - Kremeyer, Barbara A1 - Kurlan, Roger A1 - Lanzagorta, Nuria A1 - Leboyer, Marion A1 - Leckman, James F. A1 - Lennertz, Leonhard A1 - Liu, Chunyu A1 - Lochner, Christine A1 - Lowe, Thomas L. A1 - Macciardi, Fabio A1 - McCracken, James T. A1 - McGrath, Lauren M. A1 - Restrepo, Sandra C. Mesa A1 - Moessner, Rainald A1 - Morgan, Jubel A1 - Muller, Heike A1 - Murphy, Dennis L. A1 - Naarden, Allan L. A1 - Ochoa, William Cornejo A1 - Ophoff, Roel A. A1 - Osiecki, Lisa A1 - Pakstis, Andrew J. A1 - Pato, Michele T. A1 - Pato, Carlos N. A1 - Piacentini, John A1 - Pittenger, Christopher A1 - Pollak, Yehunda A1 - Rauch, Scott L. A1 - Renner, Tobias J. A1 - Reus, Victor I. A1 - Richter, Margaret A. A1 - Riddle, Mark A. A1 - Robertson, Mary M. A1 - Romero, Roxana A1 - Rosàrio, Maria C. A1 - Rosenberg, David A1 - Rouleau, Guy A. A1 - Ruhrmann, Stephan A1 - Ruiz-Linares, Andreas A1 - Sampaio, Aline S. A1 - Samuels, Jack A1 - Sandor, Paul A1 - Sheppard, Broke A1 - Singer, Harvey S. A1 - Smit, Jan H. A1 - Stein, Dan J. A1 - Strengman, E. A1 - Tischfield, Jay A. A1 - Valencia Duarte, Ana V. A1 - Vallada, Homero A1 - Van Nieuwerburgh, Flip A1 - Veenstra-VanderWeele, Jeremy A1 - Walitza, Susanne A1 - Wang, Ying A1 - Wendland, Jens R. A1 - Westenberg, Herman G. M. A1 - Shugart, Yin Yao A1 - Miguel, Euripedes C. A1 - McMahon, William A1 - Wagner, Michael A1 - Nicolini, Humberto A1 - Posthuma, Danielle A1 - Hanna, Gregory L. A1 - Heutink, Peter A1 - Denys, Damiaan A1 - Arnold, Paul D. A1 - Oostra, Ben A. A1 - Nestadt, Gerald A1 - Freimer, Nelson B. A1 - Pauls, David L. A1 - Wray, Naomi R. A1 - Stewart, S. Evelyn A1 - Mathews, Carol A. A1 - Knowles, James A. A1 - Cox, Nancy J. A1 - Scharf, Jeremiah M. T1 - Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture JF - PLoS Genetics N2 - The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures. KW - TIC disorders KW - missing heritability KW - complex diseases KW - neuropsychiatric disorders KW - common SNPS KW - gilles KW - family KW - brain KW - expression KW - autism Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-127377 SN - 1553-7390 VL - 9 IS - 10 ER - TY - JOUR A1 - Adrián-Martínez, S. A1 - Ageron, M. A1 - Aharonian, F. A1 - Aiello, S. A1 - Albert, A. A1 - Ameli, F. A1 - Annasontzis, E. A1 - Andre, M. A1 - Androulakis, G. A1 - Anghinolfi, M. A1 - Anton, G. A1 - Ardid, M. A1 - Avgitas, T. A1 - Barbarino, G. A1 - Baret, B. A1 - Barrios-Martí, J. A1 - Belhorma, B. A1 - Belias, A. A1 - Berbee, A. A1 - van den Berg, A. A1 - Bertin, V. A1 - Beurthey, S. A1 - van Beeveren, V. A1 - Beverini, N. A1 - Biagi, S. A1 - Biagioni, A. A1 - Billault, M. A1 - Bondì, M. A1 - Bormuth, R. A1 - Bouhadef, B. A1 - Bourlis, G. A1 - Bourret, S. A1 - Boutonnet, C. A1 - Bouwhuis, M. A1 - Bozza, C. A1 - Bruijn, R. A1 - Brunner, J. A1 - Buis, E. A1 - Busto, J. A1 - Cacopardo, G. A1 - Caillat, L. A1 - Calmai, M. A1 - Calvo, D. A1 - Capone, A. A1 - Caramete, L. A1 - Cecchini, S. A1 - Celli, S. A1 - Champion, C. A1 - Cherkaoui El Moursli, R. A1 - Cherubini, S. A1 - Chiarusi, T. A1 - Circella, M. A1 - Classen, L. A1 - Cocimano, R. A1 - Coelho, J. A. B. A1 - Coleiro, A. A1 - Colonges, S. A1 - Coniglione, R. A1 - Cordelli, M. A1 - Cosquer, A. A1 - Coyle, P. A1 - Creusot, A. A1 - Cuttone, G. A1 - D'Amico, A. A1 - De Bonis, G. A1 - De Rosa, G. A1 - De Sio, C. A1 - Di Capua, F. A1 - Di Palma, I. A1 - Díaz García, A. F. A1 - Distefano, C. A1 - Donzaud, C. A1 - Dornic, D. A1 - Dorosti-Hasankiadeh, Q. A1 - Drakopoulou, E. A1 - Drouhin, D. A1 - Drury, L. A1 - Durocher, M. A1 - Eberl, T. A1 - Eichie, S. A1 - van Eijk, D. A1 - El Bojaddaini, I. A1 - El Khayati, N. A1 - Elsaesser, D. A1 - Enzenhöfer, A. A1 - Fassi, F. A1 - Favali, P. A1 - Fermani, P. A1 - Ferrara, G. A1 - Filippidis, C. A1 - Frascadore, G. A1 - Fusco, L. A. A1 - Gal, T. A1 - Galatà, S. A1 - Garufi, F. A1 - Gay, P. A1 - Gebyehu, M. A1 - Giordano, V. A1 - Gizani, N. A1 - Gracia, R. A1 - Graf, K. A1 - Grégoire, T. A1 - Grella, G. A1 - Habel, R. A1 - Hallmann, S. A1 - van Haren, H. A1 - Harissopulos, S. A1 - Heid, T. A1 - Heijboer, A. A1 - Heine, E. A1 - Henry, S. A1 - Hernández-Rey, J. J. A1 - Hevinga, M. A1 - Hofestädt, J. A1 - Hugon, C. M. F. A1 - Illuminati, G. A1 - James, C. W. A1 - Jansweijer, P. A1 - Jongen, M. A1 - de Jong, M. A1 - Kadler, M. A1 - Kalekin, O. A1 - Kappes, A. A1 - Katz, U. F. A1 - Keller, P. A1 - Kieft, G. A1 - Kießling, D. A1 - Koffeman, E. N. A1 - Kooijman, P. A1 - Kouchner, A. A1 - Kulikovskiy, V. A1 - Lahmann, R. A1 - Lamare, P. A1 - Leisos, A. A1 - Leonora, E. A1 - Lindsey Clark, M. A1 - Liolios, A. A1 - Llorenz Alvarez, C. D. A1 - Lo Presti, D. A1 - Löhner, H. A1 - Lonardo, A. A1 - Lotze, M. A1 - Loucatos, S. A1 - Maccioni, E. A1 - Mannheim, K. A1 - Margiotta, A. A1 - Marinelli, A. A1 - Mariş, O. A1 - Markou, C. A1 - Martínez-Mora, J. A. A1 - Martini, A. A1 - Mele, R. A1 - Melis, K. W. A1 - Michael, T. A1 - Migliozzi, P. A1 - Migneco, E. A1 - Mijakowski, P. A1 - Miraglia, A. A1 - Mollo, C. M. A1 - Mongelli, M. A1 - Morganti, M. A1 - Moussa, A. A1 - Musico, P. A1 - Musumeci, M. A1 - Navas, S. A1 - Nicoleau, C. A. A1 - Olcina, I. A1 - Olivetto, C. A1 - Orlando, A. A1 - Papaikonomou, A. A1 - Papaleo, R. A1 - Păvălaş, G. E. A1 - Peek, H. A1 - Pellegrino, C. A1 - Perrina, C. A1 - Pfutzner, M. A1 - Piattelli, P. A1 - Pikounis, K. A1 - Poma, G. E. A1 - Popa, V. A1 - Pradier, T. A1 - Pratolongo, F. A1 - Pühlhofer, G. A1 - Pulvirenti, S. A1 - Quinn, L. A1 - Racca, C. A1 - Raffaelli, F. A1 - Randazzo, N. A1 - Rapidis, P. A1 - Razis, P. A1 - Real, D. A1 - Resvanis, L. A1 - Reubelt, J. A1 - Riccobene, G. A1 - Rossi, C. A1 - Rovelli, A. A1 - Saldaña, M. A1 - Salvadori, I. A1 - Samtleben, D. F. E. A1 - Sánchez García, A. A1 - Sánchez Losa, A. A1 - Sanguineti, M. A1 - Santangelo, A. A1 - Santonocito, D. A1 - Sapienza, P. A1 - Schimmel, F. A1 - Schmelling, J. A1 - Sciacca, V. A1 - Sedita, M. A1 - Seitz, T. A1 - Sgura, I. A1 - Simeone, F. A1 - Siotis, I. A1 - Sipala, V. A1 - Spisso, B. A1 - Spurio, M. A1 - Stavropoulos, G. A1 - Steijger, J. A1 - Stellacci, S. M. A1 - Stransky, D. A1 - Taiuti, M. A1 - Tayalati, Y. A1 - Tézier, D. A1 - Theraube, S. A1 - Thompson, L. A1 - Timmer, P. A1 - Tönnis, C. A1 - Trasatti, L. A1 - Trovato, A. A1 - Tsirigotis, A. A1 - Tzamarias, S. A1 - Tzamariudaki, E. A1 - Vallage, B. A1 - Van Elewyk, V. A1 - Vermeulen, J. A1 - Vicini, P. A1 - Viola, S. A1 - Vivolo, D. A1 - Volkert, M. A1 - Voulgaris, G. A1 - Wiggers, L. A1 - Wilms, J. A1 - de Wolf, E. A1 - Zachariadou, K. A1 - Zornoza, J. D. A1 - Zúñiga, J. T1 - Letter of intent for KM3NeT 2.0 JF - Journal of Physics G-Nuclear and Particle Physics N2 - The main objectives of the KM3NeT Collaboration are (i) the discovery and subsequent observation of high-energy neutrino sources in the Universe and (ii) the determination of the mass hierarchy of neutrinos. These objectives are strongly motivated by two recent important discoveries, namely: (1) the high-energy astrophysical neutrino signal reported by IceCube and (2) the sizable contribution of electron neutrinos to the third neutrino mass eigenstate as reported by Daya Bay, Reno and others. To meet these objectives, the KM3NeT Collaboration plans to build a new Research Infrastructure consisting of a network of deep-sea neutrino telescopes in the Mediterranean Sea. A phased and distributed implementation is pursued which maximises the access to regional funds, the availability of human resources and the synergistic opportunities for the Earth and sea sciences community. Three suitable deep-sea sites are selected, namely off-shore Toulon (France), Capo Passero (Sicily, Italy) and Pylos (Peloponnese, Greece). The infrastructure will consist of three so-called building blocks. A building block comprises 115 strings, each string comprises 18 optical modules and each optical module comprises 31 photo-multiplier tubes. Each building block thus constitutes a three-dimensional array of photo sensors that can be used to detect the Cherenkov light produced by relativistic particles emerging from neutrino interactions. Two building blocks will be sparsely configured to fully explore the IceCube signal with similar instrumented volume, different methodology, improved resolution and KW - neutrino astronomy KW - eutrino physics KW - deep sea neutrino telescope KW - neutrino mass hierarchy Y1 - 2016 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-188050 VL - 43 IS - 8 ER - TY - JOUR A1 - Adrián-Martínez, S. A1 - Albert, A. A1 - André, M. A1 - Anton, G. A1 - Ardid, M. A1 - Aubert, J.-J. A1 - Avgitas, T. A1 - Baret, B. A1 - Barrios-Martí, J. A1 - Basa, S. A1 - Bertin, V. A1 - Biagi, S. A1 - Bormuth, R. A1 - Bou-Cabo, M. A1 - Bouwhuis, M.C. A1 - Bruijn, R. A1 - Brunner, J. A1 - Busto, J. A1 - Capone, A. A1 - Caramete, L. A1 - Carr, J. A1 - Celli, S. A1 - Chiarusi, T. A1 - Circella, M. A1 - Coleiro, A. A1 - Coniglione, R. A1 - Costantini, H. A1 - Coyle, P. A1 - Creusot, A. A1 - Deschamps, A. A1 - De Bonis, G. A1 - Distefano, C. A1 - Donzaud, C. A1 - Dornic, D. A1 - Drouhin, D. A1 - Eberl, T. A1 - El Bojaddaini, I. A1 - Elsässer, D. A1 - Enzenhöfer, A. A1 - Fehn, K. A1 - Felis, I. A1 - Fusco, L.A. A1 - Galatà, S. A1 - Gay, P. A1 - Geißelsöder, S. A1 - Geyer, K. A1 - Giordano, V. A1 - Gleixner, A. A1 - Glotin, H. A1 - Gracia-Ruiz, R. A1 - Graf, K. A1 - Hallmann, S. A1 - van Haren, H. A1 - Heijboer, A.J. A1 - Hello, Y. A1 - Hernández-Rey, J.-J. A1 - Hößl, J. A1 - Hofestädt, J. A1 - Hugon, C. A1 - Illuminati, G. A1 - James, C.W. A1 - de Jong, M. A1 - Kadler, M. A1 - Kalekin, O. A1 - Katz, U. A1 - Kießling, D. A1 - Kouchner, A. A1 - Kreter, M. A1 - Kreykenbohm, I. A1 - Kulikovskiy, V. A1 - Lachaud, C. A1 - Lahmann, R. A1 - Lefèvre, D. A1 - Leonora, E. A1 - Loucatos, S. A1 - Marcelin, M. A1 - Margiotta, A. A1 - Marinelli, A. A1 - Martínez-Mora, J.A. A1 - Mathieu, A. A1 - Michael, T. A1 - Migliozzi, P. A1 - Moussa, A. A1 - Mueller, C. A1 - Nezri, E. A1 - Păvălaș, G.E. A1 - Pellegrino, C. A1 - Perrina, C. A1 - Piattelli, P. A1 - Popa, V. A1 - Pradier, T. A1 - Racca, C. A1 - Riccobene, G. A1 - Roensch, K. A1 - Saldaña, M. A1 - Samtleben, D.F.E. A1 - Sanguineti, M. A1 - Sapienza, P. A1 - Schnabel, J. A1 - Schüssler, F. A1 - Seitz, T. A1 - Sieger, C. A1 - Spurio, M. A1 - Stolarczyk, Th. A1 - Sánchez-Losa, A. A1 - Taiuti, M. A1 - Trovato, A. A1 - Tselengidou, M. A1 - Turpin, D. A1 - Tönnis, C. A1 - Vallage, B. A1 - Vallée, C. A1 - Van Elewyck, V. A1 - Vivolo, D. A1 - Wagner, S. A1 - Wilms, J. A1 - Zornoza, J.D. A1 - Zúñiga, J. T1 - A search for Secluded Dark Matter in the Sun with the ANTARES neutrino telescope JF - Journal of Cosmology and Astroparticle Physics N2 - A search for Secluded Dark Matter annihilation in the Sun using 2007-2012 data of the ANTARES neutrino telescope is presented. Three different cases are considered: a) detection of dimuons that result from the decay of the mediator, or neutrino detection from: b) mediator that decays into a dimuon and, in turn, into neutrinos, and c) mediator that decays directly into neutrinos. As no significant excess over background is observed, constraints are derived on the dark matter mass and the lifetime of the mediator. KW - dark matter experiments KW - neutrino detectors KW - dark matter detectors KW - neutrino astronomy Y1 - 2016 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-189035 VL - 2016 IS - 5 ER - TY - JOUR A1 - Adrián-Martínez, S. A1 - Albert, A. A1 - André, M. A1 - Anton, G. A1 - Ardid, M. A1 - Aubert, J.-J. A1 - Avgitas, T. A1 - Baret, B. A1 - Barrios-Martí, J. A1 - Basa, S. A1 - Bertin, V. A1 - Biagi, S. A1 - Bormuth, R. A1 - Bouwhuis, M.C. A1 - Bruijn, R. A1 - Brunner, J. A1 - Busto, J. A1 - Capone, A. A1 - Caramete, L. A1 - Carr, J. A1 - Celli, S. A1 - Chiarusi, T. A1 - Circella, M. A1 - Coleiro, A. A1 - Coniglione, R. A1 - Costantini, H. A1 - Coyle, P. A1 - Creusot, A. A1 - Deschamps, A. A1 - De Bonis, G. A1 - Distefano, C. A1 - Donzaud, C. A1 - Dornic, D. A1 - Drouhin, D. A1 - Eberl, T. A1 - El Bojaddaini, I. A1 - Elsässer, D. A1 - Enzenhöfer, A. A1 - Fehn, K. A1 - Felis, I. A1 - Fusco, L.A. A1 - Galatà, S. A1 - Gay, P. A1 - Geißelsöder, S. A1 - Geyer, K. A1 - Giordano, V. A1 - Gleixner, A. A1 - Glotin, H. A1 - Gracia-Ruiz, R. A1 - Graf, K. A1 - Hallmann, S. A1 - van Haren, H. A1 - Heijboer, A.J. A1 - Hello, Y. A1 - Hernández-Rey, J.J. A1 - Hößl, J. A1 - Hofestädt, J. A1 - Hugon, C. A1 - Illuminati, G. A1 - James, C.W. A1 - de Jong, M. A1 - Jongen, M. A1 - Kadler, M. A1 - Kalekin, O. A1 - Katz, U. A1 - Kießling, D. A1 - Kouchner, A. A1 - Kreter, M. A1 - Kreykenbohm, I. A1 - Kulikovskiy, V. A1 - Lachaud, C. A1 - Lahmann, R. A1 - Lefèvre, D. A1 - Leonora, E. A1 - Loucatos, S. A1 - Marcelin, M. A1 - Margiotta, A. A1 - Marinelli, A. A1 - Martínez-Mora, J.A. A1 - Mathieu, A. A1 - Melis, K. A1 - Michael, T. A1 - Migliozzi, P. A1 - Moussa, A. A1 - Mueller, C. A1 - Nezri, E. A1 - Pavalas, G.E. A1 - Pellegrino, C. A1 - Perrina, C. A1 - Piattelli, P. A1 - Popa, V. A1 - Pradier, T. A1 - Racca, C. A1 - Riccobene, G. A1 - Roensch, K. A1 - Saldaña, M. A1 - Samtleben, D.F.E. A1 - Sánchez-Losa, A. A1 - Sanguineti, M. A1 - Sapienza, P. A1 - Schnabel, J. A1 - Schüssler, F. A1 - Seitz, T. A1 - Sieger, C. A1 - Spurio, M. A1 - Stolarczyk, Th. A1 - Taiuti, M. A1 - Tönnis, C. A1 - Trovato, A. A1 - Tselengidou, M. A1 - Turpin, D. A1 - Vallage, B. A1 - Vallée, C. A1 - Van Elewyck, V. A1 - Vivolo, D. A1 - Wagner, S. A1 - Wilms, J. A1 - Zornoza, J.D. A1 - Zúñiga, J. T1 - Limits on dark matter annihilation in the sun using the ANTARES neutrino telescope JF - Physics Letters B N2 - A search for muon neutrinos originating from dark matter annihilations in the Sun is performed using the data recorded by the ANTARES neutrino telescope from 2007 to 2012. In order to obtain the best possible sensitivities to dark matter signals, an optimisation of the event selection criteria is performed taking into account the background of atmospheric muons, atmospheric neutrinos and the energy spectra of the expected neutrino signals. No significant excess over the background is observed and 90% C.L. upper limits on the neutrino flux, the spin-dependent and spin-independent WIMP-nucleon cross-sections are derived for WIMP masses ranging from 50 GeV to 5 TeV for the annihilation channels WIMP + WIMP→ b\(\overline{b}\), W\(^{+}\)W\(^{−}\) and τ\(^{+}\)τ\(^{−}\). KW - dark matter KW - WIMP KW - neutralino KW - indirect detection KW - neutrino telescope KW - sun Y1 - 2016 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166642 VL - 759 ER - TY - JOUR A1 - Adrián-Martínez, S. A1 - Albert, A. A1 - André, M. A1 - Anghinolfi, M. A1 - Anton, G. A1 - Ardid, M. A1 - Aubert, J.-J. A1 - Avgitas, T. A1 - Baret, B. A1 - Barrios-Martí, J. A1 - Basa, S. A1 - Bertin, V. A1 - Biagi, S. A1 - Bormuth, R. A1 - Bouwhuis, M.C. A1 - Bruijn, R. A1 - Brunner, J. A1 - Busto, J. A1 - Capone, A. A1 - Caramete, L. A1 - Carr, J. A1 - Celli, S. A1 - Chiarusi, T. A1 - Circella, M. A1 - Coleiro, A. A1 - Coniglione, R. A1 - Constantini, H. A1 - Coyle, P. A1 - Creusot, A. A1 - Deschamps, A. A1 - De Bonis, G. A1 - Distefano, C. A1 - Donzaud, C. A1 - Dornic, D. A1 - Drouhin, D. A1 - Eberl, T. A1 - El Bojaddaini, I. A1 - Elsässer, D. A1 - Enzenhöfer, A. A1 - Fehn, K. A1 - Felis, I. A1 - Fusco, L.A. A1 - Galatà, S. A1 - Gay, P. A1 - Geißelsöder, S. A1 - Geyer, K. A1 - Giordano, V. A1 - Gleixner, A. A1 - Glotin, H. A1 - Gracia-Ruiz, R. A1 - Graf, K. A1 - Hallmann, S. A1 - van Haren, H. A1 - Heijboer, A.J. A1 - Hello, Y. A1 - Hernández-Rey, J.J. A1 - Hößl, J. A1 - Hofestädt, J. A1 - Hugon, C. A1 - Illuminati, G. A1 - James, C.W. A1 - de Jong, M. A1 - Kadler, M. A1 - Kalekin, O. A1 - Katz, U. A1 - Kießling, D. A1 - Kouchner, A. A1 - Kreter, M. A1 - Kreykenbohm, I. A1 - Kulikovskiy, V. A1 - Lachaud, C. A1 - Lahmann, R. A1 - Lefèvre, D. A1 - Leonora, E. A1 - Loucatos, S. A1 - Marcelin, M. A1 - Margiotta, A. A1 - Marinelli, A. A1 - Martínez-Mora, J.A. A1 - Mathieu, A. A1 - Michael, T. A1 - Migliozzi, P. A1 - Moussa, A. A1 - Mueller, C. A1 - Nezri, E. A1 - Pavalas, G.E. A1 - Pellegrino, C. A1 - Perrina, C. A1 - Piattelli, P. A1 - Popa, V. A1 - Pradier, T. A1 - Racca, C. A1 - Riccobene, G. A1 - Roensch, K. A1 - Saldaña, M. A1 - Samtleben, D.F.E. A1 - Sánchez-Losa, A. A1 - Sanguineti, M. A1 - Sapienza, P. A1 - Schnabel, J. A1 - Schüssler, F. A1 - Seitz, T. A1 - Sieger, C. A1 - Spurio, M. A1 - Stolarczyk, Th. A1 - Taiuti, M. A1 - Trovato, A. A1 - Tselengidou, M. A1 - Turpin, D. A1 - Tönnis, C. A1 - Vallage, B. A1 - Vallée, C. A1 - Van Elewyck, V. A1 - Visser, E. A1 - Vivolo, D. A1 - Wagner, S. A1 - Wilms, J. A1 - Zornoza, J.D. A1 - Zúñiga, J. T1 - Constraints on the neutrino emission from the Galactic Ridge with the ANTARES telescope JF - Physics Letters B N2 - A highly significant excess of high-energy astrophysical neutrinos has been reported by the IceCube Collaboration. Some features of the energy and declination distributions of IceCube events hint at a North/South asymmetry of the neutrino flux. This could be due to the presence of the bulk of our Galaxy in the Southern hemisphere. The ANTARES neutrino telescope, located in the Mediterranean Sea, has been taking data since 2007. It offers the best sensitivity to muon neutrinos produced by galactic cosmic ray interactions in this region of the sky. In this letter a search for an extended neutrino flux from the Galactic Ridge region is presented. Different models of neutrino production by cosmic ray propagation are tested. No excess of events is observed and upper limits for different neutrino flux spectral indices Γ are set. For Γ=2.4 the 90% confidence level flux upper limit at 100 TeV for one neutrino flavour corresponds to Φ\(^{1f}_{0}\) (100 TeV) = 2.0 · 10\(^{−17}\) GeV\(^{−1}\) cm\(^{−2}\)s\(^{−1}\)sr\(^{−1}\). Under this assumption, at most two events of the IceCube cosmic candidates can originate from the Galactic Ridge. A simple power-law extrapolation of the Fermi-LAT flux to account for IceCube High Energy Starting Events is excluded at 90% confidence level. KW - neutrino emission KW - Galactic Ridge KW - ANTARES telescope Y1 - 2016 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166608 VL - 760 ER - TY - JOUR A1 - Ferreira, Manuel A. A1 - Gamazon, Eric R. A1 - Al-Ejeh, Fares A1 - Aittomäki, Kristiina A1 - Andrulis, Irene L. A1 - Anton-Culver, Hoda A1 - Arason, Adalgeir A1 - Arndt, Volker A1 - Aronson, Kristan J. A1 - Arun, Banu K. A1 - Asseryanis, Ella A1 - Azzollini, Jacopo A1 - Balmaña, Judith A1 - Barnes, Daniel R. A1 - Barrowdale, Daniel A1 - Beckmann, Matthias W. A1 - Behrens, Sabine A1 - Benitez, Javier A1 - Bermisheva, Marina A1 - Bialkowska, Katarzyna A1 - Blomqvist, Carl A1 - Bogdanova, Natalia V. A1 - Bojesen, Stig E. A1 - Bolla, Manjeet K. A1 - Borg, Ake A1 - Brauch, Hiltrud A1 - Brenner, Hermann A1 - Broeks, Annegien A1 - Burwinkel, Barbara A1 - Caldés, Trinidad A1 - Caligo, Maria A. A1 - Campa, Daniele A1 - Campbell, Ian A1 - Canzian, Federico A1 - Carter, Jonathan A1 - Carter, Brian D. A1 - Castelao, Jose E. A1 - Chang-Claude, Jenny A1 - Chanock, Stephen J. A1 - Christiansen, Hans A1 - Chung, Wendy K. A1 - Claes, Kathleen B. M. A1 - Clarke, Christine L. A1 - Couch, Fergus J. A1 - Cox, Angela A1 - Cross, Simon S. A1 - Czene, Kamila A1 - Daly, Mary B. A1 - de la Hoya, Miguel A1 - Dennis, Joe A1 - Devilee, Peter A1 - Diez, Orland A1 - Dörk, Thilo A1 - Dunning, Alison M. A1 - Dwek, Miriam A1 - Eccles, Diana M. A1 - Ejlertsen, Bent A1 - Ellberg, Carolina A1 - Engel, Christoph A1 - Eriksson, Mikael A1 - Fasching, Peter A. A1 - Fletcher, Olivia A1 - Flyger, Henrik A1 - Friedman, Eitan A1 - Frost, Debra A1 - Gabrielson, Marike A1 - Gago-Dominguez, Manuela A1 - Ganz, Patricia A. A1 - Gapstur, Susan M. A1 - Garber, Judy A1 - García-Closas, Montserrat A1 - García-Sáenz, José A. A1 - Gaudet, Mia M. A1 - Giles, Graham G. A1 - Glendon, Gord A1 - Godwin, Andrew K. A1 - Goldberg, Mark S. A1 - Goldgar, David E. A1 - González-Neira, Anna A1 - Greene, Mark H. A1 - Gronwald, Jacek A1 - Guenél, Pascal A1 - Haimann, Christopher A. A1 - Hall, Per A1 - Hamann, Ute A1 - He, Wei A1 - Heyworth, Jane A1 - Hogervorst, Frans B. L. A1 - Hollestelle, Antoinette A1 - Hoover, Robert N. A1 - Hopper, John L. A1 - Hulick, Peter J. A1 - Humphreys, Keith A1 - Imyanitov, Evgeny N. A1 - Isaacs, Claudine A1 - Jakimovska, Milena A1 - Jakubowska, Anna A1 - James, Paul A. A1 - Janavicius, Ramunas A1 - Jankowitz, Rachel C. A1 - John, Esther M. A1 - Johnson, Nichola A1 - Joseph, Vijai A1 - Karlan, Beth Y. A1 - Khusnutdinova, Elza A1 - Kiiski, Johanna I. A1 - Ko, Yon-Dschun A1 - Jones, Michael E. A1 - Konstantopoulou, Irene A1 - Kristensen, Vessela N. A1 - Laitman, Yael A1 - Lambrechts, Diether A1 - Lazaro, Conxi A1 - Leslie, Goska A1 - Lester, Jenny A1 - Lesueur, Fabienne A1 - Lindström, Sara A1 - Long, Jirong A1 - Loud, Jennifer T. A1 - Lubiński, Jan A1 - Makalic, Enes A1 - Mannermaa, Arto A1 - Manoochehri, Mehdi A1 - Margolin, Sara A1 - Maurer, Tabea A1 - Mavroudis, Dimitrios A1 - McGuffog, Lesley A1 - Meindl, Alfons A1 - Menon, Usha A1 - Michailidou, Kyriaki A1 - Miller, Austin A1 - Montagna, Marco A1 - Moreno, Fernando A1 - Moserle, Lidia A1 - Mulligan, Anna Marie A1 - Nathanson, Katherine L. A1 - Neuhausen, Susan L. A1 - Nevanlinna, Heli A1 - Nevelsteen, Ines A1 - Nielsen, Finn C. A1 - Nikitina-Zake, Liene A1 - Nussbaum, Robert L. A1 - Offit, Kenneth A1 - Olah, Edith A1 - Olopade, Olufunmilayo I. A1 - Olsson, Håkan A1 - Osorio, Ana A1 - Papp, Janos A1 - Park-Simon, Tjoung-Won A1 - Parsons, Michael T. A1 - Pedersen, Inge Sokilde A1 - Peixoto, Ana A1 - Peterlongo, Paolo A1 - Pharaoh, Paul D. P. A1 - Plaseska-Karanfilska, Dijana A1 - Poppe, Bruce A1 - Presneau, Nadege A1 - Radice, Paolo A1 - Rantala, Johanna A1 - Rennert, Gad A1 - Risch, Harvey A. A1 - Saloustros, Emmanouil A1 - Sanden, Kristin A1 - Sawyer, Elinor J. A1 - Schmidt, Marjanka K. A1 - Schmutzler, Rita K. A1 - Sharma, Priyanka A1 - Shu, Xiao-Ou A1 - Simard, Jaques A1 - Singer, Christian F. A1 - Soucy, Penny A1 - Southey, Melissa C. A1 - Spinelli, John J. A1 - Spurdle, Amanda B. A1 - Stone, Jennifer A1 - Swerdlow, Anthony J. A1 - Tapper, William J. A1 - Taylor, Jack A. A1 - Teixeira, Manuel R. A1 - Terry, Mary Beth A1 - Teulé, Alex A1 - Thomassen, Mads A1 - Thöne, Kathrin A1 - Thull, Darcy L. A1 - Tischkowitz, Marc A1 - Toland, Amanda E. A1 - Torres, Diana A1 - Truong, Thérèse A1 - Tung, Nadine A1 - Vachon, Celine M. A1 - van Asperen, Christi J. A1 - van den Ouweland, Ans M. W. A1 - van Rensburg, Elizabeth J. A1 - Vega, Ana A1 - Viel, Alexandra A1 - Wang, Qin A1 - Wappenschmidt, Barbara A1 - Weitzel, Jeffrey N. A1 - Wendt, Camilla A1 - Winqvist, Robert A1 - Yang, Xiaohong R. A1 - Yannoukakos, Drakoulis A1 - Ziogas, Argyrios A1 - Kraft, Peter A1 - Antoniou, Antonis C. A1 - Zheng, Wei A1 - Easton, Douglas F. A1 - Milne, Roger L. A1 - Beesley, Jonathan A1 - Chenevix-Trench, Georgia T1 - Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer JF - Nature Communications N2 - Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer. KW - cancer KW - genetics Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-228024 VL - 10 ER - TY - JOUR A1 - Went, Molly A1 - Sud, Amit A1 - Speedy, Helen A1 - Sunter, Nicola J. A1 - Försti, Asta A1 - Law, Philip J. A1 - Johnson, David C. A1 - Mirabella, Fabio A1 - Holroyd, Amy A1 - Li, Ni A1 - Orlando, Giulia A1 - Weinhold, Niels A1 - van Duin, Mark A1 - Chen, Bowang A1 - Mitchell, Jonathan S. A1 - Mansouri, Larry A1 - Juliusson, Gunnar A1 - Smedby, Karin E A1 - Jayne, Sandrine A1 - Majid, Aneela A1 - Dearden, Claire A1 - Allsup, David J. A1 - Bailey, James R. A1 - Pratt, Guy A1 - Pepper, Chris A1 - Fegan, Chris A1 - Rosenquist, Richard A1 - Kuiper, Rowan A1 - Stephens, Owen W. A1 - Bertsch, Uta A1 - Broderick, Peter A1 - Einsele, Hermann A1 - Gregory, Walter M. A1 - Hillengass, Jens A1 - Hoffmann, Per A1 - Jackson, Graham H. A1 - Jöckel, Karl-Heinz A1 - Nickel, Jolanta A1 - Nöthen, Markus M. A1 - da Silva Filho, Miguel Inacio A1 - Thomsen, Hauke A1 - Walker, Brian A. A1 - Broyl, Annemiek A1 - Davies, Faith E. A1 - Hansson, Markus A1 - Goldschmidt, Hartmut A1 - Dyer, Martin J. S. A1 - Kaiser, Martin A1 - Sonneveld, Pieter A1 - Morgan, Gareth J. A1 - Hemminki, Kari A1 - Nilsson, Björn A1 - Catovsky, Daniel A1 - Allan, James M. A1 - Houlston, Richard S. T1 - Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology JF - Blood Cancer Journal N2 - The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma (MM) and chronic lymphocytic leukaemia (CLL) genome-wide association study (GWAS) data sets, totalling 11,734 cases and 29,468 controls. A significant genetic correlation between these two B-cell malignancies was shown (Rg = 0.4, P = 0.0046). Furthermore, four of the 45 known CLL risk loci were shown to associate with MM risk and five of the 23 known MM risk loci associate with CLL risk. By integrating eQTL, Hi-C and ChIP-seq data, we show that these pleiotropic risk loci are enriched for B-cell regulatory elements and implicate B-cell developmental genes. These data identify shared biological pathways influencing the development of CLL and, MM and further our understanding of the aetiological basis of these B-cell malignancies. KW - cancer genetics KW - myeloma Y1 - 2018 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-233627 VL - 9 ER - TY - JOUR A1 - Manchia, Mirko A1 - Adli, Mazda A1 - Akula, Nirmala A1 - Arda, Raffaella A1 - Aubry, Jean-Michel A1 - Backlund, Lena A1 - Banzato, Claudio E. M. A1 - Baune, Bernhard T. A1 - Bellivier, Frank A1 - Bengesser, Susanne A1 - Biernacka, Joanna M. A1 - Brichant-Petitjean, Clara A1 - Bui, Elise A1 - Calkin, Cynthia V. A1 - Cheng, Andrew Tai Ann A1 - Chillotti, Caterina A1 - Cichon, Sven A1 - Clark, Scott A1 - Czerski, Piotr M. A1 - Dantas, Clarissa A1 - Del Zompo, Maria A1 - DePaulo, J. Raymond A1 - Detera-Wadleigh, Sevilla D. A1 - Etain, Bruno A1 - Falkai, Peter A1 - Frisén, Louise A1 - Frye, Mark A. A1 - Fullerton, Jan A1 - Gard, Sébastien A1 - Garnham, Julie A1 - Goes, Fernando S. A1 - Grof, Paul A1 - Gruber, Oliver A1 - Hashimoto, Ryota A1 - Hauser, Joanna A1 - Heilbronner, Urs A1 - Hoban, Rebecca A1 - Hou, Liping A1 - Jamain, Stéphane A1 - Kahn, Jean-Pierre A1 - Kassem, Layla A1 - Kato, Tadafumi A1 - Kelsoe, John R. A1 - Kittel-Schneider, Sarah A1 - Kliwicki, Sebastian A1 - Kuo, Po-Hsiu A1 - Kusumi, Ichiro A1 - Laje, Gonzalo A1 - Lavebratt, Catharina A1 - Leboyer, Marion A1 - Leckband, Susan G. A1 - López Jaramillo, Carlos A. A1 - Maj, Mario A1 - Malafosse, Alain A1 - Martinsson, Lina A1 - Masui, Takuya A1 - Mitchell, Philip B. A1 - Mondimore, Frank A1 - Monteleone, Palmiero A1 - Nallet, Audrey A1 - Neuner, Maria A1 - Novák, Tomás A1 - O'Donovan, Claire A1 - Ösby, Urban A1 - Ozaki, Norio A1 - Perlis, Roy H. A1 - Pfennig, Andrea A1 - Potash, James B. A1 - Reich-Erkelenz, Daniela A1 - Reif, Andreas A1 - Reininghaus, Eva A1 - Richardson, Sara A1 - Rouleau, Guy A. A1 - Rybakowski, Janusz K. A1 - Schalling, Martin A1 - Schofield, Peter R. A1 - Schubert, Oliver K. A1 - Schweizer, Barbara A1 - Seemüller, Florian A1 - Grigoroiu-Serbanescu, Maria A1 - Severino, Giovanni A1 - Seymour, Lisa R. A1 - Slaney, Claire A1 - Smoller, Jordan W. A1 - Squassina, Alessio A1 - Stamm, Thomas A1 - Steele, Jo A1 - Stopkova, Pavla A1 - Tighe, Sarah K. A1 - Tortorella, Alfonso A1 - Turecki, Gustavo A1 - Wray, Naomi R. A1 - Wright, Adam A1 - Zandi, Peter P. A1 - Zilles, David A1 - Bauer, Michael A1 - Rietschel, Marcella A1 - McMahon, Francis J. A1 - Schulze, Thomas G. A1 - Alda, Martin T1 - Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report JF - PLoS ONE N2 - Objective: The assessment of response to lithium maintenance treatment in bipolar disorder (BD) is complicated by variable length of treatment, unpredictable clinical course, and often inconsistent compliance. Prospective and retrospective methods of assessment of lithium response have been proposed in the literature. In this study we report the key phenotypic measures of the "Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder" scale currently used in the Consortium on Lithium Genetics (ConLiGen) study. Materials and Methods: Twenty-nine ConLiGen sites took part in a two-stage case-vignette rating procedure to examine inter-rater agreement [Kappa (\(\kappa\))] and reliability [intra-class correlation coefficient (ICC)] of lithium response. Annotated first-round vignettes and rating guidelines were circulated to expert research clinicians for training purposes between the two stages. Further, we analyzed the distributional properties of the treatment response scores available for 1,308 patients using mixture modeling. Results: Substantial and moderate agreement was shown across sites in the first and second sets of vignettes (\(\kappa\) = 0.66 and \(\kappa\) = 0.54, respectively), without significant improvement from training. However, definition of response using the A score as a quantitative trait and selecting cases with B criteria of 4 or less showed an improvement between the two stages (\(ICC_1 = 0.71\) and \(ICC_2 = 0.75\), respectively). Mixture modeling of score distribution indicated three subpopulations (full responders, partial responders, non responders). Conclusions: We identified two definitions of lithium response, one dichotomous and the other continuous, with moderate to substantial inter-rater agreement and reliability. Accurate phenotypic measurement of lithium response is crucial for the ongoing ConLiGen pharmacogenomic study. KW - age KW - observer agreement KW - prophylactic lithium KW - mapping susceptibility genes KW - mood disorders KW - onset KW - association KW - reliability KW - morality KW - illness Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-130938 VL - 8 IS - 6 ER - TY - JOUR A1 - Couch, Fergus J. A1 - Wang, Xianshu A1 - McGuffog, Lesley A1 - Lee, Andrew A1 - Olswold, Curtis A1 - Kuchenbaecker, Karoline B. A1 - Soucy, Penny A1 - Fredericksen, Zachary A1 - Barrowdale, Daniel A1 - Dennis, Joe A1 - Gaudet, Mia M. A1 - Dicks, Ed A1 - Kosel, Matthew A1 - Healey, Sue A1 - Sinilnikova, Olga M. A1 - Lee, Adam A1 - Bacot, Françios A1 - Vincent, Daniel A1 - Hogervorst, Frans B. L. A1 - Peock, Susan A1 - Stoppa-Lyonnet, Dominique A1 - Jakubowska, Anna A1 - Radice, Paolo A1 - Schmutzler, Rita Katharina A1 - Domchek, Susan M. A1 - Piedmonte, Marion A1 - Singer, Christian F. A1 - Friedman, Eitan A1 - Thomassen, Mads A1 - Hansen, Thomas V. O. A1 - Neuhausen, Susan L. A1 - Szabo, Csilla I. A1 - Blanco, Ingnacio A1 - Greene, Mark H. A1 - Karlan, Beth Y. A1 - Garber, Judy A1 - Phelan, Catherine M. A1 - Weitzel, Jeffrey N. A1 - Montagna, Marco A1 - Olah, Edith A1 - Andrulis, Irene L. A1 - Godwin, Andrew K. A1 - Yannoukakos, Drakoulis A1 - Goldgar, David E. A1 - Caldes, Trinidad A1 - Nevanlinna, Heli A1 - Osorio, Ana A1 - Terry, Mary Beth A1 - Daly, Mary B. A1 - van Rensburg, Elisabeth J. A1 - Hamann, Ute A1 - Ramus, Susan J. A1 - Toland, Amanda Ewart A1 - Caligo, Maria A. A1 - Olopade, Olufunmilayo I. A1 - Tung, Nadine A1 - Claes, Kathleen A1 - Beattie, Mary S. A1 - Southey, Melissa C. A1 - Imyanitov, Evgeny N. A1 - Tischkowitz, Marc A1 - Janavicius, Ramunas A1 - John, Esther M. A1 - Kwong, Ava A1 - Diez, Orland A1 - Kwong, Ava A1 - Balmaña, Judith A1 - Barkardottir, Rosa B. A1 - Arun, Banu K. A1 - Rennert, Gad A1 - Teo, Soo-Hwang A1 - Ganz, Patricia A. A1 - Campbell, Ian A1 - van der Hout, Annemarie H. A1 - van Deurzen, Carolien H. M. A1 - Seynaeve, Caroline A1 - Garcia, Encarna B. Gómez A1 - van Leeuwen, Flora E. A1 - Meijers-Heijboer, Hanne E. J. A1 - Gille, Johannes J. P. A1 - Ausems, Magreet G. E. M. A1 - Blok, Marinus J. A1 - Ligtenberg, Marjolinjin J. L. A1 - Rookus, Matti A. A1 - Devilee, Peter A1 - Verhoef, Senno A1 - van Os, Theo A. M. A1 - Wijnen, Juul T. A1 - Frost, Debra A1 - Ellis, Steve A1 - Fineberg, Elena A1 - Platte, Radke A1 - Evans, D. Gareth A1 - Izatt, Luise A1 - Eeles, Rosalind A. A1 - Adlard, Julian A1 - Eccles, Diana M. A1 - Cook, Jackie A1 - Brewer, Carole A1 - Douglas, Fiona A1 - Hodgson, Shirley A1 - Morrison, Patrick J. A1 - Side, Lucy E. A1 - Donaldson, Alan A1 - Houghton, Catherine A1 - Rogers, Mark T. A1 - Dorkins, Huw A1 - Eason, Jacqueline A1 - Gregory, Helen A1 - McCann, Emma A1 - Murray, Alex A1 - Calender, Alain A1 - Hardouin, Agnès A1 - Berthet, Pascaline A1 - Delnatte, Capucine A1 - Nogues, Catherine A1 - Lasset, Christine A1 - Houdayer, Claude A1 - Leroux,, Dominique A1 - Rouleau, Etienne A1 - Prieur, Fabienne A1 - Damiola, Francesca A1 - Sobol, Hagay A1 - Coupier, Isabelle A1 - Venat-Bouvet, Laurence A1 - Castera, Laurent A1 - Gauthier-Villars, Marion A1 - Léoné, Mélanie A1 - Pujol, Pascal A1 - Mazoyer, Sylvie A1 - Bignon, Yves-Jean A1 - Zlowocka-Perlowska, Elzbieta A1 - Gronwald, Jacek A1 - Lubinski,, Jan A1 - Durda, Katarzyna A1 - Jaworska, Katarzyna A1 - Huzarski, Tomasz A1 - Spurdle, Amanda B. A1 - Viel, Alessandra A1 - Peissel, Bernhard A1 - Bonanni, Bernardo A1 - Melloni, Guilia A1 - Ottini, Laura A1 - Papi, Laura A1 - Varesco, Liliana A1 - Tibiletti, Maria Grazia A1 - Peterlongo, Paolo A1 - Volorio, Sara A1 - Manoukian, Siranoush A1 - Pensotti, Valeria A1 - Arnold, Norbert A1 - Engel, Christoph A1 - Deissler, Helmut A1 - Gadzicki, Dorothea A1 - Gehrig, Andrea A1 - Kast, Karin A1 - Rhiem, Kerstin A1 - Meindl, Alfons A1 - Niederacher, Dieter A1 - Ditsch, Nina A1 - Plendl, Hansjoerg A1 - Preisler-Adams, Sabine A1 - Engert, Stefanie A1 - Sutter, Christian A1 - Varon-Mateeva, Raymenda A1 - Wappenschmidt, Barbara A1 - Weber, Bernhard H. F. A1 - Arver, Brita A1 - Stenmark-Askmalm, Marie A1 - Loman, Niklas A1 - Rosenquist, Richard A1 - Einbeigi, Zakaria A1 - Nathanson, Katherine L. A1 - Rebbeck, Timothy R. A1 - Blank, Stephanie V. A1 - Cohn, David E. A1 - Rodriguez, Gustavo C. A1 - Small, Laurie A1 - Friedlander, Michael A1 - Bae-Jump, Victoria L. A1 - Fink-Retter, Anneliese A1 - Rappaport, Christine A1 - Gschwantler-Kaulich, Daphne A1 - Pfeiler, Georg A1 - Tea, Muy-Kheng A1 - Lindor, Noralane M. A1 - Kaufman, Bella A1 - Paluch, Shani Shimon A1 - Laitman, Yael A1 - Skytte, Anne-Bine A1 - Gerdes, Anne-Marie A1 - Pedersen, Inge Sokilde A1 - Moeller, Sanne Traasdahl A1 - Kruse, Torben A. A1 - Jensen, Uffe Birk A1 - Vijai, Joseph A1 - Sarrel, Kara A1 - Robson, Mark A1 - Kauff, Noah A1 - Mulligan, Anna Marie A1 - Glendon, Gord A1 - Ozcelik, Hilmi A1 - Ejlertsen, Bent A1 - Nielsen, Finn C. A1 - Jønson, Lars A1 - Andersen, Mette K. A1 - Ding, Yuan Chun A1 - Steele, Linda A1 - Foretova, Lenka A1 - Teulé, Alex A1 - Lazaro, Conxi A1 - Brunet, Joan A1 - Pujana, Miquel Angel A1 - Mai, Phuong L. A1 - Loud, Jennifer T. A1 - Walsh, Christine A1 - Lester, Jenny A1 - Orsulic, Sandra A1 - Narod, Steven A. A1 - Herzog, Josef A1 - Sand, Sharon R. A1 - Tognazzo, Silvia A1 - Agata, Simona A1 - Vaszko, Tibor A1 - Weaver, Joellen A1 - Stravropoulou, Alexandra V. A1 - Buys, Saundra S. A1 - Romero, Atocha A1 - de la Hoya, Miguel A1 - Aittomäki, Kristiina A1 - Muranen, Taru A. A1 - Duran, Mercedes A1 - Chung, Wendy K. A1 - Lasa, Adriana A1 - Dorfling, Cecilia M. A1 - Miron, Alexander A1 - Benitez, Javier A1 - Senter, Leigha A1 - Huo, Dezheng A1 - Chan, Salina B. A1 - Sokolenko, Anna P. A1 - Chiquette, Jocelyne A1 - Tihomirova, Laima A1 - Friebel, Tara M. A1 - Agnarsson, Bjarne A. A1 - Lu, Karen H. A1 - Lejbkowicz, Flavio A1 - James, Paul A. A1 - Hall, Per A1 - Dunning, Alison M. A1 - Tessier, Daniel A1 - Cunningham, Julie A1 - Slager, Susan L. A1 - Chen, Wang A1 - Hart, Steven A1 - Stevens, Kristen A1 - Simard, Jacques A1 - Pastinen, Tomi A1 - Pankratz, Vernon S. A1 - Offit, Kenneth A1 - Easton, Douglas F. A1 - Chenevix-Trench, Georgia A1 - Antoniou, Antonis C. T1 - Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk JF - PLOS Genetics N2 - BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 x 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 x 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 x 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2 x 10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers. KW - common variants KW - susceptibility alleles KW - genetic variants KW - modifiers KW - ZNF365 KW - investigators KW - population KW - consortium KW - selection KW - subtypes Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-127947 SN - 1553-7404 VL - 9 IS - 3 ER -