TY  - JOUR
A1  - Furniss, A.
A1  - Noda, K.
A1  - Boggs, S.
A1  - Chiang, J.
A1  - Christensen, F.
A1  - Craig, W.
A1  - Giommi, P.
A1  - Hailey, C.
A1  - Harisson, F.
A1  - Madejski, G.
A1  - Nalewajko, K.
A1  - Perri, M.
A1  - Stern, D.
A1  - Urry, M.
A1  - Verrecchia, F.
A1  - Zhang, W.
A1  - Ahnen, M. L.
A1  - Ansoldi, S.
A1  - Antonelli, L. A.
A1  - Antoranz, P.
A1  - Babic, A.
A1  - Banerjee, B.
A1  - Bangale, P.
A1  - de Almeida, U. Barres
A1  - Barrio, J. A.
A1  - Becerra Gonzalez, J.
A1  - Bednarek, W.
A1  - Bernardini, E.
A1  - Biasuzzi, B.
A1  - Biland, A.
A1  - Blanch Bigas, O.
A1  - Bonnefoy, S.
A1  - Bonnoli, G.
A1  - Borracci, F.
A1  - Bretz, T.
A1  - Carmona, E.
A1  - Carosi, A.
A1  - Chatterjee, A.
A1  - Clavero, R.
A1  - Colin, P.
A1  - Colombo, E.
A1  - Contreras, J. L.
A1  - Cortina, J.
A1  - Covino, S.
A1  - Da Vela, P.
A1  - Dazzi, F.
A1  - De Angelis, A.
A1  - De Caneva, G.
A1  - De Lotto, B.
A1  - de Ona Wilhelmi, E.
A1  - Delgado Mendez, C.
A1  - Di Pierro, F.
A1  - Prester, Dijana Dominis
A1  - Dorner, D.
A1  - Doro, M.
A1  - Einecke, S.
A1  - Eisenacher Glawion, D.
A1  - Elsaesser, D.
A1  - Fernandez-Barral, A.
A1  - Fidalgo, D.
A1  - Fonseca, M. V.
A1  - Font, L.
A1  - Frantzen, K.
A1  - Fruck, C.
A1  - Galindo, D.
A1  - Garcia Lopez, R. J.
A1  - Garczarczyk, M.
A1  - Garrido Terrats, D.
A1  - Gaug, M.
A1  - Giammaria, P.
A1  - Godinovic, N.
A1  - Gonzalez Munoz, A.
A1  - Guberman, D.
A1  - Hanabata, Y.
A1  - Hayashida, M.
A1  - Herrera, J.
A1  - Hose, J.
A1  - Hrupec, D.
A1  - Hughes, G.
A1  - Idec, W.
A1  - Kellermann, H.
A1  - Kodani, K.
A1  - Konno, Y.
A1  - Kubo, H.
A1  - Kushida, J.
A1  - La Barbera, A.
A1  - Lelas, D.
A1  - Lewandowska, N.
A1  - Lindfors, E.
A1  - Lombardi, S.
A1  - Longo, F.
A1  - Lopez, M.
A1  - Lopez-Coto, R.
A1  - Lopez-Oramas, A.
A1  - Lorenz, E.
A1  - Majumdar, P.
A1  - Makariev, M.
A1  - Mallot, K.
A1  - Maneva, G.
A1  - Manganaro, M.
A1  - Mannheim, K.
A1  - Maraschi, L.
A1  - Marcote, B.
A1  - Mariotti, M.
A1  - Martinez, M.
A1  - Mazin, D.
A1  - Menzel, U.
A1  - Miranda, J. M.
A1  - Mirzoyan, R.
A1  - Moralejo, A.
A1  - Nakajima, D.
A1  - Neustroev, V.
A1  - Niedzwiecki, A.
A1  - Nievas Rosillo, M.
A1  - Nilsson, K.
A1  - Nishijima, K.
A1  - Orito, R.
A1  - Overkemping, A.
A1  - Paiano, S.
A1  - Palacio, J.
A1  - Palatiello, M.
A1  - Paneque, D.
A1  - Paoletti, R.
A1  - Paredes, J. M.
A1  - Paredes-Fortuny, X.
A1  - Persic, M.
A1  - Poutanen, J.
A1  - Moroni, P. G. Prada
A1  - Prandini, E.
A1  - Puljak, I.
A1  - Reinthal, R.
A1  - Rhode, W.
A1  - Ribo, M.
A1  - Rico, J.
A1  - Garcia, J. Rodriguez
A1  - Saito, T.
A1  - Saito, K.
A1  - Satalecka, K.
A1  - Scapin, V.
A1  - Schultz, C.
A1  - Schweizer, T.
A1  - Shore, S. N.
A1  - Sillanpaa, A.
A1  - Sitarek, J.
A1  - Snidaric, I.
A1  - Sobczynska, D.
A1  - Stamerra, A.
A1  - Steinbring, T.
A1  - Strzys, M.
A1  - Takalo, L.
A1  - Takami, H.
A1  - Tavecchio, F.
A1  - Temnikov, P.
A1  - Terzic, T.
A1  - Tescaro, D.
A1  - Teshima, M.
A1  - Thaele, J.
A1  - Torres, D. F.
A1  - Toyama, T.
A1  - Treves, A.
A1  - Verguilov, V.
A1  - Vovk, I.
A1  - Will, M.
A1  - Zanin, R.
A1  - Archer, A.
A1  - Benbow, W.
A1  - Bird, R.
A1  - Biteau, Jonathan
A1  - Bugaev, V.
A1  - Cardenzana, J. V.
A1  - Cerruti, M.
A1  - Chen, Xuhui
A1  - Ciupik, L.
A1  - Connolly, M. P.
A1  - Cui, W.
A1  - Dickinson, H. J.
A1  - Dumm, J.
A1  - Eisch, J. D.
A1  - Falcone, A.
A1  - Feng, Q.
A1  - Finley, J. P.
A1  - Fleischhack, H.
A1  - Fortin, P.
A1  - Fortson, L.
A1  - Gerard, L.
A1  - Gillanders, G. H.
A1  - Griffin, S.
A1  - Griffiths, S. T.
A1  - Grube, J.
A1  - Gyuk, G.
A1  - Hakansson, Nils
A1  - Holder, J.
A1  - Humensky, T. B.
A1  - Johnson, C. A.
A1  - Kaaret, P.
A1  - Kertzman, M.
A1  - Kieda, D.
A1  - Krause, M.
A1  - Krennrich, F.
A1  - Lang, M. J.
A1  - Lin, T. T. Y.
A1  - Maier, G.
A1  - McArthur, S.
A1  - McCann, A.
A1  - Meagher, K.
A1  - Moriarty, P.
A1  - Mukherjee, R.
A1  - Nieto, D.
A1  - Ong, R. A.
A1  - Park, N.
A1  - Petry, D.
A1  - Pohl, Martin
A1  - Popkow, A.
A1  - Ragan, K.
A1  - Ratliff, G.
A1  - Reyes, L. C.
A1  - Reynolds, P. T.
A1  - Richards, G. T.
A1  - Roache, E.
A1  - Santander, M.
A1  - Sembroski, G. H.
A1  - Shahinyan, K.
A1  - Staszak, D.
A1  - Telezhinsky, Igor O.
A1  - Tucci, J. V.
A1  - Tyler, J.
A1  - Vassiliev, V. V.
A1  - Wakely, S. P.
A1  - Weiner, O. M.
A1  - Weinstein, A.
A1  - Wilhelm, Alina
A1  - Williams, D. A.
A1  - Zitzer, B.
A1  - Vince, O.
A1  - Fuhrmann, L.
A1  - Angelakis, E.
A1  - Karamanavis, V.
A1  - Myserlis, I.
A1  - Krichbaum, T. P.
A1  - Zensus, J. A.
A1  - Ungerechts, H.
A1  - Sievers, A.
A1  - Bachev, R.
A1  - Boettcher, Markus
A1  - Chen, W. P.
A1  - Damljanovic, G.
A1  - Eswaraiah, C.
A1  - Guver, T.
A1  - Hovatta, T.
A1  - Hughes, Z.
A1  - Ibryamov, S. I.
A1  - Joner, M. D.
A1  - Jordan, B.
A1  - Jorstad, S. G.
A1  - Joshi, M.
A1  - Kataoka, J.
A1  - Kurtanidze, O. M.
A1  - Kurtanidze, S. O.
A1  - Lahteenmaki, A.
A1  - Latev, G.
A1  - Lin, H. C.
A1  - Larionov, V. M.
A1  - Mokrushina, A. A.
A1  - Morozova, D. A.
A1  - Nikolashvili, M. G.
A1  - Raiteri, C. M.
A1  - Ramakrishnan, V.
A1  - Readhead, A. C. R.
A1  - Sadun, A. C.
A1  - Sigua, L. A.
A1  - Semkov, E. H.
A1  - Strigachev, A.
A1  - Tammi, J.
A1  - Tornikoski, M.
A1  - Troitskaya, Y. V.
A1  - Troitsky, I. S.
A1  - Villata, M.
T1  - First NuSTAR observations of MRK 501 within a radio to TeV multi-instrument campaign
JF  - The astrophysical journal : an international review of spectroscopy and astronomical physics
N2  - We report on simultaneous broadband observations of the TeV-emitting blazar Markarian 501 between 2013 April 1 and August 10, including the first detailed characterization of the synchrotron peak with Swift and NuSTAR. During the campaign, the nearby BL Lac object was observed in both a quiescent and an elevated state. The broadband campaign includes observations with NuSTAR, MAGIC, VERITAS, the Fermi Large Area Telescope, Swift X-ray Telescope and UV Optical Telescope, various ground-based optical instruments, including the GASP-WEBT program, as well as radio observations by OVRO, Metsahovi, and the F-Gamma consortium. Some of the MAGIC observations were affected by a sand layer from the Saharan desert, and had to be corrected using event-by-event corrections derived with a Light Detection and Ranging (LIDAR) facility. This is the first time that LIDAR information is used to produce a physics result with Cherenkov Telescope data taken during adverse atmospheric conditions, and hence sets a precedent for the current and future ground-based gamma-ray instruments. The NuSTAR instrument provides unprecedented sensitivity in hard X-rays, showing the source to display a spectral energy distribution (SED) between 3 and 79 keV consistent with a log-parabolic spectrum and hard X-ray variability on hour timescales. None (of the four extended NuSTAR observations) show evidence of the onset of inverse-Compton emission at hard X-ray energies. We apply a single-zone equilibrium synchrotron self-Compton (SSC) model to five simultaneous broadband SEDs. We find that the SSC model can reproduce the observed broadband states through a decrease in the magnetic field strength coinciding with an increase in the luminosity and hardness of the relativistic leptons responsible for the high-energy emission.
KW  - BL Lacertae objects: general
KW  - galaxies: individual (Markarian 501)
KW  - X-rays: galaxies
Y1  - 2015
U6  - https://doi.org/10.1088/0004-637X/812/1/65
SN  - 0004-637X
SN  - 1538-4357
VL  - 812
IS  - 1
PB  - IOP Publ. Ltd.
CY  - Bristol
ER  - 
TY  - JOUR
A1  - Warrington, Nicole
A1  - Beaumont, Robin
A1  - Horikoshi, Momoko
A1  - Day, Felix R.
A1  - Helgeland, Øyvind
A1  - Laurin, Charles
A1  - Bacelis, Jonas
A1  - Peng, Shouneng
A1  - Hao, Ke
A1  - Feenstra, Bjarke
A1  - Wood, Andrew R.
A1  - Mahajan, Anubha
A1  - Tyrrell, Jessica
A1  - Robertson, Neil R.
A1  - Rayner, N. William
A1  - Qiao, Zhen
A1  - Moen, Gunn-Helen
A1  - Vaudel, Marc
A1  - Marsit, Carmen
A1  - Chen, Jia
A1  - Nodzenski, Michael
A1  - Schnurr, Theresia M.
A1  - Zafarmand, Mohammad Hadi
A1  - Bradfield, Jonathan P.
A1  - Grarup, Niels
A1  - Kooijman, Marjolein N.
A1  - Li-Gao, Ruifang
A1  - Geller, Frank
A1  - Ahluwalia, Tarunveer Singh
A1  - Paternoster, Lavinia
A1  - Rueedi, Rico
A1  - Huikari, Ville
A1  - Hottenga, Jouke-Jan
A1  - Lyytikäinen, Leo-Pekka
A1  - Cavadino, Alana
A1  - Metrustry, Sarah
A1  - Cousminer, Diana L.
A1  - Wu, Ying
A1  - Thiering, Elisabeth Paula
A1  - Wang, Carol A.
A1  - Have, Christian Theil
A1  - Vilor-Tejedor, Natalia
A1  - Joshi, Peter K.
A1  - Painter, Jodie N.
A1  - Ntalla, Ioanna
A1  - Myhre, Ronny
A1  - Pitkänen, Niina
A1  - van Leeuwen, Elisabeth M.
A1  - Joro, Raimo
A1  - Lagou, Vasiliki
A1  - Richmond, Rebecca C.
A1  - Espinosa, Ana
A1  - Barton, Sheila J.
A1  - Inskip, Hazel M.
A1  - Holloway, John W.
A1  - Santa-Marina, Loreto
A1  - Estivill, Xavier
A1  - Ang, Wei
A1  - Marsh, Julie A.
A1  - Reichetzeder, Christoph
A1  - Marullo, Letizia
A1  - Hocher, Berthold
A1  - Lunetta, Kathryn L.
A1  - Murabito, Joanne M.
A1  - Relton, Caroline L.
A1  - Kogevinas, Manolis
A1  - Chatzi, Leda
A1  - Allard, Catherine
A1  - Bouchard, Luigi
A1  - Hivert, Marie-France
A1  - Zhang, Ge
A1  - Muglia, Louis J.
A1  - Heikkinen, Jani
A1  - Morgen, Camilla S.
A1  - van Kampen, Antoine H. C.
A1  - van Schaik, Barbera D. C.
A1  - Mentch, Frank D.
A1  - Langenberg, Claudia
A1  - Scott, Robert A.
A1  - Zhao, Jing Hua
A1  - Hemani, Gibran
A1  - Ring, Susan M.
A1  - Bennett, Amanda J.
A1  - Gaulton, Kyle J.
A1  - Fernandez-Tajes, Juan
A1  - van Zuydam, Natalie R.
A1  - Medina-Gomez, Carolina
A1  - de Haan, Hugoline G.
A1  - Rosendaal, Frits R.
A1  - Kutalik, Zoltán
A1  - Marques-Vidal, Pedro
A1  - Das, Shikta
A1  - Willemsen, Gonneke
A1  - Mbarek, Hamdi
A1  - Müller-Nurasyid, Martina
A1  - Standl, Marie
A1  - Appel, Emil V. R.
A1  - Fonvig, Cilius Esmann
A1  - Trier, Caecilie
A1  - van Beijsterveldt, Catharina E. M.
A1  - Murcia, Mario
A1  - Bustamante, Mariona
A1  - Bonàs-Guarch, Sílvia
A1  - Hougaard, David M.
A1  - Mercader, Josep M.
A1  - Linneberg, Allan
A1  - Schraut, Katharina E.
A1  - Lind, Penelope A.
A1  - Medland, Sarah Elizabeth
A1  - Shields, Beverley M.
A1  - Knight, Bridget A.
A1  - Chai, Jin-Fang
A1  - Panoutsopoulou, Kalliope
A1  - Bartels, Meike
A1  - Sánchez, Friman
A1  - Stokholm, Jakob
A1  - Torrents, David
A1  - Vinding, Rebecca K.
A1  - Willems, Sara M.
A1  - Atalay, Mustafa
A1  - Chawes, Bo L.
A1  - Kovacs, Peter
A1  - Prokopenko, Inga
A1  - Tuke, Marcus A.
A1  - Yaghootkar, Hanieh
A1  - Ruth, Katherine S.
A1  - Jones, Samuel E.
A1  - Loh, Po-Ru
A1  - Murray, Anna
A1  - Weedon, Michael N.
A1  - Tönjes, Anke
A1  - Stumvoll, Michael
A1  - Michaelsen, Kim Fleischer
A1  - Eloranta, Aino-Maija
A1  - Lakka, Timo A.
A1  - van Duijn, Cornelia M.
A1  - Kiess, Wieland
A1  - Koerner, Antje
A1  - Niinikoski, Harri
A1  - Pahkala, Katja
A1  - Raitakari, Olli T.
A1  - Jacobsson, Bo
A1  - Zeggini, Eleftheria
A1  - Dedoussis, George V.
A1  - Teo, Yik-Ying
A1  - Saw, Seang-Mei
A1  - Montgomery, Grant W.
A1  - Campbell, Harry
A1  - Wilson, James F.
A1  - Vrijkotte, Tanja G. M.
A1  - Vrijheid, Martine
A1  - de Geus, Eco J. C. N.
A1  - Hayes, M. Geoffrey
A1  - Kadarmideen, Haja N.
A1  - Holm, Jens-Christian
A1  - Beilin, Lawrence J.
A1  - Pennell, Craig E.
A1  - Heinrich, Joachim
A1  - Adair, Linda S.
A1  - Borja, Judith B.
A1  - Mohlke, Karen L.
A1  - Eriksson, Johan G.
A1  - Widen, Elisabeth E.
A1  - Hattersley, Andrew T.
A1  - Spector, Tim D.
A1  - Kaehoenen, Mika
A1  - Viikari, Jorma S.
A1  - Lehtimaeki, Terho
A1  - Boomsma, Dorret I.
A1  - Sebert, Sylvain
A1  - Vollenweider, Peter
A1  - Sorensen, Thorkild I. A.
A1  - Bisgaard, Hans
A1  - Bonnelykke, Klaus
A1  - Murray, Jeffrey C.
A1  - Melbye, Mads
A1  - Nohr, Ellen A.
A1  - Mook-Kanamori, Dennis O.
A1  - Rivadeneira, Fernando
A1  - Hofman, Albert
A1  - Felix, Janine F.
A1  - Jaddoe, Vincent W. V.
A1  - Hansen, Torben
A1  - Pisinger, Charlotta
A1  - Vaag, Allan A.
A1  - Pedersen, Oluf
A1  - Uitterlinden, Andre G.
A1  - Jarvelin, Marjo-Riitta
A1  - Power, Christine
A1  - Hypponen, Elina
A1  - Scholtens, Denise M.
A1  - Lowe, William L.
A1  - Smith, George Davey
A1  - Timpson, Nicholas J.
A1  - Morris, Andrew P.
A1  - Wareham, Nicholas J.
A1  - Hakonarson, Hakon
A1  - Grant, Struan F. A.
A1  - Frayling, Timothy M.
A1  - Lawlor, Debbie A.
A1  - Njolstad, Pal R.
A1  - Johansson, Stefan
A1  - Ong, Ken K.
A1  - McCarthy, Mark I.
A1  - Perry, John R. B.
A1  - Evans, David M.
A1  - Freathy, Rachel M.
T1  - Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
JF  - Nature genetics
N2  - Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
Y1  - 2019
SN  - 1061-4036
SN  - 1546-1718
VL  - 51
IS  - 5
SP  - 804
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - JOUR
A1  - Tiegs, Scott D.
A1  - Costello, David M.
A1  - Isken, Mark W.
A1  - Woodward, Guy
A1  - McIntyre, Peter B.
A1  - Gessner, Mark O.
A1  - Chauvet, Eric
A1  - Griffiths, Natalie A.
A1  - Flecker, Alex S.
A1  - Acuna, Vicenc
A1  - Albarino, Ricardo
A1  - Allen, Daniel C.
A1  - Alonso, Cecilia
A1  - Andino, Patricio
A1  - Arango, Clay
A1  - Aroviita, Jukka
A1  - Barbosa, Marcus V. M.
A1  - Barmuta, Leon A.
A1  - Baxter, Colden V.
A1  - Bell, Thomas D. C.
A1  - Bellinger, Brent
A1  - Boyero, Luz
A1  - Brown, Lee E.
A1  - Bruder, Andreas
A1  - Bruesewitz, Denise A.
A1  - Burdon, Francis J.
A1  - Callisto, Marcos
A1  - Canhoto, Cristina
A1  - Capps, Krista A.
A1  - Castillo, Maria M.
A1  - Clapcott, Joanne
A1  - Colas, Fanny
A1  - Colon-Gaud, Checo
A1  - Cornut, Julien
A1  - Crespo-Perez, Veronica
A1  - Cross, Wyatt F.
A1  - Culp, Joseph M.
A1  - Danger, Michael
A1  - Dangles, Olivier
A1  - de Eyto, Elvira
A1  - Derry, Alison M.
A1  - Diaz Villanueva, Veronica
A1  - Douglas, Michael M.
A1  - Elosegi, Arturo
A1  - Encalada, Andrea C.
A1  - Entrekin, Sally
A1  - Espinosa, Rodrigo
A1  - Ethaiya, Diana
A1  - Ferreira, Veronica
A1  - Ferriol, Carmen
A1  - Flanagan, Kyla M.
A1  - Fleituch, Tadeusz
A1  - Shah, Jennifer J. Follstad
A1  - Frainer, Andre
A1  - Friberg, Nikolai
A1  - Frost, Paul C.
A1  - Garcia, Erica A.
A1  - Lago, Liliana Garcia
A1  - Garcia Soto, Pavel Ernesto
A1  - Ghate, Sudeep
A1  - Giling, Darren P.
A1  - Gilmer, Alan
A1  - Goncalves, Jose Francisco
A1  - Gonzales, Rosario Karina
A1  - Graca, Manuel A. S.
A1  - Grace, Mike
A1  - Grossart, Hans-Peter
A1  - Guerold, Francois
A1  - Gulis, Vlad
A1  - Hepp, Luiz U.
A1  - Higgins, Scott
A1  - Hishi, Takuo
A1  - Huddart, Joseph
A1  - Hudson, John
A1  - Imberger, Samantha
A1  - Iniguez-Armijos, Carlos
A1  - Iwata, Tomoya
A1  - Janetski, David J.
A1  - Jennings, Eleanor
A1  - Kirkwood, Andrea E.
A1  - Koning, Aaron A.
A1  - Kosten, Sarian
A1  - Kuehn, Kevin A.
A1  - Laudon, Hjalmar
A1  - Leavitt, Peter R.
A1  - Lemes da Silva, Aurea L.
A1  - Leroux, Shawn J.
A1  - Leroy, Carri J.
A1  - Lisi, Peter J.
A1  - MacKenzie, Richard
A1  - Marcarelli, Amy M.
A1  - Masese, Frank O.
A1  - Mckie, Brendan G.
A1  - Oliveira Medeiros, Adriana
A1  - Meissner, Kristian
A1  - Milisa, Marko
A1  - Mishra, Shailendra
A1  - Miyake, Yo
A1  - Moerke, Ashley
A1  - Mombrikotb, Shorok
A1  - Mooney, Rob
A1  - Moulton, Tim
A1  - Muotka, Timo
A1  - Negishi, Junjiro N.
A1  - Neres-Lima, Vinicius
A1  - Nieminen, Mika L.
A1  - Nimptsch, Jorge
A1  - Ondruch, Jakub
A1  - Paavola, Riku
A1  - Pardo, Isabel
A1  - Patrick, Christopher J.
A1  - Peeters, Edwin T. H. M.
A1  - Pozo, Jesus
A1  - Pringle, Catherine
A1  - Prussian, Aaron
A1  - Quenta, Estefania
A1  - Quesada, Antonio
A1  - Reid, Brian
A1  - Richardson, John S.
A1  - Rigosi, Anna
A1  - Rincon, Jose
A1  - Risnoveanu, Geta
A1  - Robinson, Christopher T.
A1  - Rodriguez-Gallego, Lorena
A1  - Royer, Todd V.
A1  - Rusak, James A.
A1  - Santamans, Anna C.
A1  - Selmeczy, Geza B.
A1  - Simiyu, Gelas
A1  - Skuja, Agnija
A1  - Smykla, Jerzy
A1  - Sridhar, Kandikere R.
A1  - Sponseller, Ryan
A1  - Stoler, Aaron
A1  - Swan, Christopher M.
A1  - Szlag, David
A1  - Teixeira-de Mello, Franco
A1  - Tonkin, Jonathan D.
A1  - Uusheimo, Sari
A1  - Veach, Allison M.
A1  - Vilbaste, Sirje
A1  - Vought, Lena B. M.
A1  - Wang, Chiao-Ping
A1  - Webster, Jackson R.
A1  - Wilson, Paul B.
A1  - Woelfl, Stefan
A1  - Xenopoulos, Marguerite A.
A1  - Yates, Adam G.
A1  - Yoshimura, Chihiro
A1  - Yule, Catherine M.
A1  - Zhang, Yixin X.
A1  - Zwart, Jacob A.
T1  - Global patterns and drivers of ecosystem functioning in rivers and riparian zones
JF  - Science Advances
N2  - River ecosystems receive and process vast quantities of terrestrial organic carbon, the fate of which depends strongly on microbial activity. Variation in and controls of processing rates, however, are poorly characterized at the global scale. In response, we used a peer-sourced research network and a highly standardized carbon processing assay to conduct a global-scale field experiment in greater than 1000 river and riparian sites. We found that Earth’s biomes have distinct carbon processing signatures. Slow processing is evident across latitudes, whereas rapid rates are restricted to lower latitudes. Both the mean rate and variability decline with latitude, suggesting temperature constraints toward the poles and greater roles for other environmental drivers (e.g., nutrient loading) toward the equator. These results and data set the stage for unprecedented “next-generation biomonitoring” by establishing baselines to help quantify environmental impacts to the functioning of ecosystems at a global scale.
Y1  - 2019
U6  - https://doi.org/10.1126/sciadv.aav0486
SN  - 2375-2548
VL  - 5
IS  - 1
PB  - American Assoc. for the Advancement of Science
CY  - Washington
ER  - 
TY  - JOUR
A1  - Wuttke, Matthias
A1  - Li, Yong
A1  - Li, Man
A1  - Sieber, Karsten B.
A1  - Feitosa, Mary F.
A1  - Gorski, Mathias
A1  - Tin, Adrienne
A1  - Wang, Lihua
A1  - Chu, Audrey Y.
A1  - Hoppmann, Anselm
A1  - Kirsten, Holger
A1  - Giri, Ayush
A1  - Chai, Jin-Fang
A1  - Sveinbjornsson, Gardar
A1  - Tayo, Bamidele O.
A1  - Nutile, Teresa
A1  - Fuchsberger, Christian
A1  - Marten, Jonathan
A1  - Cocca, Massimiliano
A1  - Ghasemi, Sahar
A1  - Xu, Yizhe
A1  - Horn, Katrin
A1  - Noce, Damia
A1  - Van der Most, Peter J.
A1  - Sedaghat, Sanaz
A1  - Yu, Zhi
A1  - Akiyama, Masato
A1  - Afaq, Saima
A1  - Ahluwalia, Tarunveer Singh
A1  - Almgren, Peter
A1  - Amin, Najaf
A1  - Arnlov, Johan
A1  - Bakker, Stephan J. L.
A1  - Bansal, Nisha
A1  - Baptista, Daniela
A1  - Bergmann, Sven
A1  - Biggs, Mary L.
A1  - Biino, Ginevra
A1  - Boehnke, Michael
A1  - Boerwinkle, Eric
A1  - Boissel, Mathilde
A1  - Böttinger, Erwin
A1  - Boutin, Thibaud S.
A1  - Brenner, Hermann
A1  - Brumat, Marco
A1  - Burkhardt, Ralph
A1  - Butterworth, Adam S.
A1  - Campana, Eric
A1  - Campbell, Archie
A1  - Campbell, Harry
A1  - Canouil, Mickael
A1  - Carroll, Robert J.
A1  - Catamo, Eulalia
A1  - Chambers, John C.
A1  - Chee, Miao-Ling
A1  - Chee, Miao-Li
A1  - Chen, Xu
A1  - Cheng, Ching-Yu
A1  - Cheng, Yurong
A1  - Christensen, Kaare
A1  - Cifkova, Renata
A1  - Ciullo, Marina
A1  - Concas, Maria Pina
A1  - Cook, James P.
A1  - Coresh, Josef
A1  - Corre, Tanguy
A1  - Sala, Cinzia Felicita
A1  - Cusi, Daniele
A1  - Danesh, John
A1  - Daw, E. Warwick
A1  - De Borst, Martin H.
A1  - De Grandi, Alessandro
A1  - De Mutsert, Renee
A1  - De Vries, Aiko P. J.
A1  - Degenhardt, Frauke
A1  - Delgado, Graciela
A1  - Demirkan, Ayse
A1  - Di Angelantonio, Emanuele
A1  - Dittrich, Katalin
A1  - Divers, Jasmin
A1  - Dorajoo, Rajkumar
A1  - Eckardt, Kai-Uwe
A1  - Ehret, Georg
A1  - Elliott, Paul
A1  - Endlich, Karlhans
A1  - Evans, Michele K.
A1  - Felix, Janine F.
A1  - Foo, Valencia Hui Xian
A1  - Franco, Oscar H.
A1  - Franke, Andre
A1  - Freedman, Barry I.
A1  - Freitag-Wolf, Sandra
A1  - Friedlander, Yechiel
A1  - Froguel, Philippe
A1  - Gansevoort, Ron T.
A1  - Gao, He
A1  - Gasparini, Paolo
A1  - Gaziano, J. Michael
A1  - Giedraitis, Vilmantas
A1  - Gieger, Christian
A1  - Girotto, Giorgia
A1  - Giulianini, Franco
A1  - Gogele, Martin
A1  - Gordon, Scott D.
A1  - Gudbjartsson, Daniel F.
A1  - Gudnason, Vilmundur
A1  - Haller, Toomas
A1  - Hamet, Pavel
A1  - Harris, Tamara B.
A1  - Hartman, Catharina A.
A1  - Hayward, Caroline
A1  - Hellwege, Jacklyn N.
A1  - Heng, Chew-Kiat
A1  - Hicks, Andrew A.
A1  - Hofer, Edith
A1  - Huang, Wei
A1  - Hutri-Kahonen, Nina
A1  - Hwang, Shih-Jen
A1  - Ikram, M. Arfan
A1  - Indridason, Olafur S.
A1  - Ingelsson, Erik
A1  - Ising, Marcus
A1  - Jaddoe, Vincent W. V.
A1  - Jakobsdottir, Johanna
A1  - Jonas, Jost B.
A1  - Joshi, Peter K.
A1  - Josyula, Navya Shilpa
A1  - Jung, Bettina
A1  - Kahonen, Mika
A1  - Kamatani, Yoichiro
A1  - Kammerer, Candace M.
A1  - Kanai, Masahiro
A1  - Kastarinen, Mika
A1  - Kerr, Shona M.
A1  - Khor, Chiea-Chuen
A1  - Kiess, Wieland
A1  - Kleber, Marcus E.
A1  - Koenig, Wolfgang
A1  - Kooner, Jaspal S.
A1  - Korner, Antje
A1  - Kovacs, Peter
A1  - Kraja, Aldi T.
A1  - Krajcoviechova, Alena
A1  - Kramer, Holly
A1  - Kramer, Bernhard K.
A1  - Kronenberg, Florian
A1  - Kubo, Michiaki
A1  - Kuhnel, Brigitte
A1  - Kuokkanen, Mikko
A1  - Kuusisto, Johanna
A1  - La Bianca, Martina
A1  - Laakso, Markku
A1  - Lange, Leslie A.
A1  - Langefeld, Carl D.
A1  - Lee, Jeannette Jen-Mai
A1  - Lehne, Benjamin
A1  - Lehtimaki, Terho
A1  - Lieb, Wolfgang
A1  - Lim, Su-Chi
A1  - Lind, Lars
A1  - Lindgren, Cecilia M.
A1  - Liu, Jun
A1  - Liu, Jianjun
A1  - Loeffler, Markus
A1  - Loos, Ruth J. F.
A1  - Lucae, Susanne
A1  - Lukas, Mary Ann
A1  - Lyytikainen, Leo-Pekka
A1  - Magi, Reedik
A1  - Magnusson, Patrik K. E.
A1  - Mahajan, Anubha
A1  - Martin, Nicholas G.
A1  - Martins, Jade
A1  - Marz, Winfried
A1  - Mascalzoni, Deborah
A1  - Matsuda, Koichi
A1  - Meisinger, Christa
A1  - Meitinger, Thomas
A1  - Melander, Olle
A1  - Metspalu, Andres
A1  - Mikaelsdottir, Evgenia K.
A1  - Milaneschi, Yuri
A1  - Miliku, Kozeta
A1  - Mishra, Pashupati P.
A1  - Program, V. A. Million Veteran
A1  - Mohlke, Karen L.
A1  - Mononen, Nina
A1  - Montgomery, Grant W.
A1  - Mook-Kanamori, Dennis O.
A1  - Mychaleckyj, Josyf C.
A1  - Nadkarni, Girish N.
A1  - Nalls, Mike A.
A1  - Nauck, Matthias
A1  - Nikus, Kjell
A1  - Ning, Boting
A1  - Nolte, Ilja M.
A1  - Noordam, Raymond
A1  - Olafsson, Isleifur
A1  - Oldehinkel, Albertine J.
A1  - Orho-Melander, Marju
A1  - Ouwehand, Willem H.
A1  - Padmanabhan, Sandosh
A1  - Palmer, Nicholette D.
A1  - Palsson, Runolfur
A1  - Penninx, Brenda W. J. H.
A1  - Perls, Thomas
A1  - Perola, Markus
A1  - Pirastu, Mario
A1  - Pirastu, Nicola
A1  - Pistis, Giorgio
A1  - Podgornaia, Anna I.
A1  - Polasek, Ozren
A1  - Ponte, Belen
A1  - Porteous, David J.
A1  - Poulain, Tanja
A1  - Pramstaller, Peter P.
A1  - Preuss, Michael H.
A1  - Prins, Bram P.
A1  - Province, Michael A.
A1  - Rabelink, Ton J.
A1  - Raffield, Laura M.
A1  - Raitakari, Olli T.
A1  - Reilly, Dermot F.
A1  - Rettig, Rainer
A1  - Rheinberger, Myriam
A1  - Rice, Kenneth M.
A1  - Ridker, Paul M.
A1  - Rivadeneira, Fernando
A1  - Rizzi, Federica
A1  - Roberts, David J.
A1  - Robino, Antonietta
A1  - Rossing, Peter
A1  - Rudan, Igor
A1  - Rueedi, Rico
A1  - Ruggiero, Daniela
A1  - Ryan, Kathleen A.
A1  - Saba, Yasaman
A1  - Sabanayagam, Charumathi
A1  - Salomaa, Veikko
A1  - Salvi, Erika
A1  - Saum, Kai-Uwe
A1  - Schmidt, Helena
A1  - Schmidt, Reinhold
A1  - Ben Schottker, 
A1  - Schulz, Christina-Alexandra
A1  - Schupf, Nicole
A1  - Shaffer, Christian M.
A1  - Shi, Yuan
A1  - Smith, Albert V.
A1  - Smith, Blair H.
A1  - Soranzo, Nicole
A1  - Spracklen, Cassandra N.
A1  - Strauch, Konstantin
A1  - Stringham, Heather M.
A1  - Stumvoll, Michael
A1  - Svensson, Per O.
A1  - Szymczak, Silke
A1  - Tai, E-Shyong
A1  - Tajuddin, Salman M.
A1  - Tan, Nicholas Y. Q.
A1  - Taylor, Kent D.
A1  - Teren, Andrej
A1  - Tham, Yih-Chung
A1  - Thiery, Joachim
A1  - Thio, Chris H. L.
A1  - Thomsen, Hauke
A1  - Thorleifsson, Gudmar
A1  - Toniolo, Daniela
A1  - Tonjes, Anke
A1  - Tremblay, Johanne
A1  - Tzoulaki, Ioanna
A1  - Uitterlinden, Andre G.
A1  - Vaccargiu, Simona
A1  - Van Dam, Rob M.
A1  - Van der Harst, Pim
A1  - Van Duijn, Cornelia M.
A1  - Edward, Digna R. Velez
A1  - Verweij, Niek
A1  - Vogelezang, Suzanne
A1  - Volker, Uwe
A1  - Vollenweider, Peter
A1  - Waeber, Gerard
A1  - Waldenberger, Melanie
A1  - Wallentin, Lars
A1  - Wang, Ya Xing
A1  - Wang, Chaolong
A1  - Waterworth, Dawn M.
A1  - Bin Wei, Wen
A1  - White, Harvey
A1  - Whitfield, John B.
A1  - Wild, Sarah H.
A1  - Wilson, James F.
A1  - Wojczynski, Mary K.
A1  - Wong, Charlene
A1  - Wong, Tien-Yin
A1  - Xu, Liang
A1  - Yang, Qiong
A1  - Yasuda, Masayuki
A1  - Yerges-Armstrong, Laura M.
A1  - Zhang, Weihua
A1  - Zonderman, Alan B.
A1  - Rotter, Jerome I.
A1  - Bochud, Murielle
A1  - Psaty, Bruce M.
A1  - Vitart, Veronique
A1  - Wilson, James G.
A1  - Dehghan, Abbas
A1  - Parsa, Afshin
A1  - Chasman, Daniel I.
A1  - Ho, Kevin
A1  - Morris, Andrew P.
A1  - Devuyst, Olivier
A1  - Akilesh, Shreeram
A1  - Pendergrass, Sarah A.
A1  - Sim, Xueling
A1  - Boger, Carsten A.
A1  - Okada, Yukinori
A1  - Edwards, Todd L.
A1  - Snieder, Harold
A1  - Stefansson, Kari
A1  - Hung, Adriana M.
A1  - Heid, Iris M.
A1  - Scholz, Markus
A1  - Teumer, Alexander
A1  - Kottgen, Anna
A1  - Pattaro, Cristian
T1  - A catalog of genetic loci associated with kidney function from analyses of a million individuals
JF  - Nature genetics
N2  - Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Y1  - 2019
U6  - https://doi.org/10.1038/s41588-019-0407-x
SN  - 1061-4036
SN  - 1546-1718
VL  - 51
IS  - 6
SP  - 957
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - JOUR
A1  - Beaumont, Robin N.
A1  - Warrington, Nicole M.
A1  - Cavadino, Alana
A1  - Tyrrell, Jessica
A1  - Nodzenski, Michael
A1  - Horikoshi, Momoko
A1  - Geller, Frank
A1  - Myhre, Ronny
A1  - Richmond, Rebecca C.
A1  - Paternoster, Lavinia
A1  - Bradfield, Jonathan P.
A1  - Kreiner-Moller, Eskil
A1  - Huikari, Ville
A1  - Metrustry, Sarah
A1  - Lunetta, Kathryn L.
A1  - Painter, Jodie N.
A1  - Hottenga, Jouke-Jan
A1  - Allard, Catherine
A1  - Barton, Sheila J.
A1  - Espinosa, Ana
A1  - Marsh, Julie A.
A1  - Potter, Catherine
A1  - Zhang, Ge
A1  - Ang, Wei
A1  - Berry, Diane J.
A1  - Bouchard, Luigi
A1  - Das, Shikta
A1  - Hakonarson, Hakon
A1  - Heikkinen, Jani
A1  - Helgeland, Oyvind
A1  - Hocher, Berthold
A1  - Hofman, Albert
A1  - Inskip, Hazel M.
A1  - Jones, Samuel E.
A1  - Kogevinas, Manolis
A1  - Lind, Penelope A.
A1  - Marullo, Letizia
A1  - Medland, Sarah E.
A1  - Murray, Anna
A1  - Murray, Jeffrey C.
A1  - Njolstad, Pal R.
A1  - Nohr, Ellen A.
A1  - Reichetzeder, Christoph
A1  - Ring, Susan M.
A1  - Ruth, Katherine S.
A1  - Santa-Marina, Loreto
A1  - Scholtens, Denise M.
A1  - Sebert, Sylvain
A1  - Sengpiel, Verena
A1  - Tuke, Marcus A.
A1  - Vaudel, Marc
A1  - Weedon, Michael N.
A1  - Willemsen, Gonneke
A1  - Wood, Andrew R.
A1  - Yaghootkar, Hanieh
A1  - Muglia, Louis J.
A1  - Bartels, Meike
A1  - Relton, Caroline L.
A1  - Pennell, Craig E.
A1  - Chatzi, Leda
A1  - Estivill, Xavier
A1  - Holloway, John W.
A1  - Boomsma, Dorret I.
A1  - Montgomery, Grant W.
A1  - Murabito, Joanne M.
A1  - Spector, Tim D.
A1  - Power, Christine
A1  - Jarvelin, Marjo-Ritta
A1  - Bisgaard, Hans
A1  - Grant, Struan F. A.
A1  - Sorensen, Thorkild I. A.
A1  - Jaddoe, Vincent W.
A1  - Jacobsson, Bo
A1  - Melbye, Mads
A1  - McCarthy, Mark I.
A1  - Hattersley, Andrew T.
A1  - Hayes, M. Geoffrey
A1  - Frayling, Timothy M.
A1  - Hivert, Marie-France
A1  - Felix, Janine F.
A1  - Hypponen, Elina
A1  - Lowe, William L.
A1  - Evans, David M.
A1  - Lawlor, Debbie A.
A1  - Feenstra, Bjarke
A1  - Freathy, Rachel M.
T1  - Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
JF  - Human molecular genetics
N2  - Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P< 5 x 10(-8). In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
Y1  - 2018
U6  - https://doi.org/10.1093/hmg/ddx429
SN  - 0964-6906
SN  - 1460-2083
VL  - 27
IS  - 4
SP  - 742
EP  - 756
PB  - Oxford Univ. Press
CY  - Oxford
ER  - 
TY  - GEN
A1  - Beaumont, Robin N.
A1  - Warrington, Nicole M.
A1  - Cavadino, Alana
A1  - Tyrrell, Jessica
A1  - Nodzenski, Michael
A1  - Horikoshi, Momoko
A1  - Geller, Frank
A1  - Myhre, Ronny
A1  - Richmond, Rebecca C.
A1  - Paternoster, Lavinia
A1  - Bradfield, Jonathan P.
A1  - Kreiner-Møller, Eskil
A1  - Huikari, Ville
A1  - Metrustry, Sarah
A1  - Lunetta, Kathryn L.
A1  - Painter, Jodie N.
A1  - Hottenga, Jouke-Jan
A1  - Allard, Catherine
A1  - Barton, Sheila J.
A1  - Espinosa, Ana
A1  - Marsh, Julie A.
A1  - Potter, Catherine
A1  - Zhang, Ge
A1  - Ang, Wei
A1  - Berry, Diane J.
A1  - Bouchard, Luigi
A1  - Das, Shikta
A1  - Hakonarson, Hakon
A1  - Heikkinen, Jani
A1  - Helgeland, Øyvind
A1  - Hocher, Berthold
A1  - Hofman, Albert
A1  - Inskip, Hazel M.
A1  - Jones, Samuel E.
A1  - Kogevinas, Manolis
A1  - Lind, Penelope A.
A1  - Marullo, Letizia
A1  - Medland, Sarah E.
A1  - Murray, Anna
A1  - Murray, Jeffrey C.
A1  - Njølstad, Pa ̊l R.
A1  - Nohr, Ellen A.
A1  - Reichetzeder, Christoph
A1  - Ring, Susan M.
A1  - Ruth, Katherine S.
A1  - Santa-Marina, Loreto
A1  - Scholtens, Denise M.
A1  - Sebert, Sylvain
A1  - Sengpiel, Verena
A1  - Tuke, Marcus A.
A1  - Vaudel, Marc
A1  - Weedon, Michael N.
A1  - Willemsen, Gonneke
A1  - Wood, Andrew R.
A1  - Yaghootkar, Hanieh
A1  - Muglia, Louis J.
A1  - Bartels, Meike
A1  - Relton, Caroline L.
A1  - Pennell, Craig E.
A1  - Chatzi, Leda
A1  - Estivill, Xavier
A1  - Holloway, John W.
A1  - Boomsma, Dorret I.
A1  - Montgomery, Grant W.
A1  - Murabito, Joanne M.
A1  - Spector, Tim D.
A1  - Power, Christine
A1  - Ja ̈rvelin, Marjo-Ritta
A1  - Bisgaard, Hans
A1  - Grant, Struan F.A.
A1  - Sørensen, Thorkild I.A.
A1  - Jaddoe, Vincent W.
A1  - Jacobsson, Bo
A1  - Melbye, Mads
A1  - McCarthy, Mark I.
A1  - Hattersley, Andrew T.
A1  - Hayes, M. Geoffrey
A1  - Frayling, Timothy M.
A1  - Hivert, Marie-France
A1  - Felix, Janine F.
A1  - Hyppo ̈nen, Elina
A1  - Lowe, William L. , Jr
A1  - Evans, David M.
A1  - Lawlor, Debbie A.
A1  - Feenstra, Bjarke
A1  - Freathy, Rachel M.
T1  - Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
T2  - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe
N2  - Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother–child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 Â 10 À8 . In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
T3  - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 628 
KW  - alleles
KW  - birth weight
KW  - fetus
KW  - genotype
KW  - mothers
KW  - single nucleotide polymorphism
KW  - genetics
KW  - duration of gestation
KW  - genome-wide association study
KW  - offspring
KW  - biobanks
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-423100
SN  - 1866-8372
IS  - 628
ER  - 
TY  - JOUR
A1  - Read, Betsy A.
A1  - Kegel, Jessica
A1  - Klute, Mary J.
A1  - Kuo, Alan
A1  - Lefebvre, Stephane C.
A1  - Maumus, Florian
A1  - Mayer, Christoph
A1  - Miller, John
A1  - Monier, Adam
A1  - Salamov, Asaf
A1  - Young, Jeremy
A1  - Aguilar, Maria
A1  - Claverie, Jean-Michel
A1  - Frickenhaus, Stephan
A1  - Gonzalez, Karina
A1  - Herman, Emily K.
A1  - Lin, Yao-Cheng
A1  - Napier, Johnathan
A1  - Ogata, Hiroyuki
A1  - Sarno, Analissa F.
A1  - Shmutz, Jeremy
A1  - Schroeder, Declan
A1  - de Vargas, Colomban
A1  - Verret, Frederic
A1  - von Dassow, Peter
A1  - Valentin, Klaus
A1  - Van de Peer, Yves
A1  - Wheeler, Glen
A1  - Dacks, Joel B.
A1  - Delwiche, Charles F.
A1  - Dyhrman, Sonya T.
A1  - Glöckner, Gernot
A1  - John, Uwe
A1  - Richards, Thomas
A1  - Worden, Alexandra Z.
A1  - Zhang, Xiaoyu
A1  - Grigoriev, Igor V.
A1  - Allen, Andrew E.
A1  - Bidle, Kay
A1  - Borodovsky, M.
A1  - Bowler, C.
A1  - Brownlee, Colin
A1  - Cock, J. Mark
A1  - Elias, Marek
A1  - Gladyshev, Vadim N.
A1  - Groth, Marco
A1  - Guda, Chittibabu
A1  - Hadaegh, Ahmad
A1  - Iglesias-Rodriguez, Maria Debora
A1  - Jenkins, J.
A1  - Jones, Bethan M.
A1  - Lawson, Tracy
A1  - Leese, Florian
A1  - Lindquist, Erika
A1  - Lobanov, Alexei
A1  - Lomsadze, Alexandre
A1  - Malik, Shehre-Banoo
A1  - Marsh, Mary E.
A1  - Mackinder, Luke
A1  - Mock, Thomas
A1  - Müller-Röber, Bernd
A1  - Pagarete, Antonio
A1  - Parker, Micaela
A1  - Probert, Ian
A1  - Quesneville, Hadi
A1  - Raines, Christine
A1  - Rensing, Stefan A.
A1  - Riano-Pachon, Diego Mauricio
A1  - Richier, Sophie
A1  - Rokitta, Sebastian
A1  - Shiraiwa, Yoshihiro
A1  - Soanes, Darren M.
A1  - van der Giezen, Mark
A1  - Wahlund, Thomas M.
A1  - Williams, Bryony
A1  - Wilson, Willie
A1  - Wolfe, Gordon
A1  - Wurch, Louie L.
T1  - Pan genome of the phytoplankton Emiliania underpins its global distribution
JF  - Nature : the international weekly journal of science
N2  - Coccolithophores have influenced the global climate for over 200 million years(1). These marine phytoplankton can account for 20 per cent of total carbon fixation in some systems(2). They form blooms that can occupy hundreds of thousands of square kilometres and are distinguished by their elegantly sculpted calcium carbonate exoskeletons (coccoliths), rendering them visible from space(3). Although coccolithophores export carbon in the form of organic matter and calcite to the sea floor, they also release CO2 in the calcification process. Hence, they have a complex influence on the carbon cycle, driving either CO2 production or uptake, sequestration and export to the deep ocean(4). Here we report the first haptophyte reference genome, from the coccolithophore Emiliania huxleyi strain CCMP1516, and sequences from 13 additional isolates. Our analyses reveal a pan genome (core genes plus genes distributed variably between strains) probably supported by an atypical complement of repetitive sequence in the genome. Comparisons across strains demonstrate that E. huxleyi, which has long been considered a single species, harbours extensive genome variability reflected in different metabolic repertoires. Genome variability within this species complex seems to underpin its capacity both to thrive in habitats ranging from the equator to the subarctic and to form large-scale episodic blooms under a wide variety of environmental conditions.
Y1  - 2013
U6  - https://doi.org/10.1038/nature12221
SN  - 0028-0836
SN  - 1476-4687
VL  - 499
IS  - 7457
SP  - 209
EP  - 213
PB  - Nature Publ. Group
CY  - London
ER  - 
TY  - JOUR
A1  - Horikoshi, Momoko
A1  - Yaghootkar, Hanieh
A1  - Mook-Kanamori, Dennis O.
A1  - Sovio, Ulla
A1  - Taal, H. Rob
A1  - Hennig, Branwen J.
A1  - Bradfield, Jonathan P.
A1  - St Pourcain, Beate
A1  - Evans, David M.
A1  - Charoen, Pimphen
A1  - Kaakinen, Marika
A1  - Cousminer, Diana L.
A1  - Lehtimaki, Terho
A1  - Kreiner-Moller, Eskil
A1  - Warrington, Nicole M.
A1  - Bustamante, Mariona
A1  - Feenstra, Bjarke
A1  - Berry, Diane J.
A1  - Thiering, Elisabeth
A1  - Pfab, Thiemo
A1  - Barton, Sheila J.
A1  - Shields, Beverley M.
A1  - Kerkhof, Marjan
A1  - van Leeuwen, Elisabeth M.
A1  - Fulford, Anthony J.
A1  - Kutalik, Zoltan
A1  - Zhao, Jing Hua
A1  - den Hoed, Marcel
A1  - Mahajan, Anubha
A1  - Lindi, Virpi
A1  - Goh, Liang-Kee
A1  - Hottenga, Jouke-Jan
A1  - Wu, Ying
A1  - Raitakari, Olli T.
A1  - Harder, Marie N.
A1  - Meirhaeghe, Aline
A1  - Ntalla, Ioanna
A1  - Salem, Rany M.
A1  - Jameson, Karen A.
A1  - Zhou, Kaixin
A1  - Monies, Dorota M.
A1  - Lagou, Vasiliki
A1  - Kirin, Mirna
A1  - Heikkinen, Jani
A1  - Adair, Linda S.
A1  - Alkuraya, Fowzan S.
A1  - Al-Odaib, Ali
A1  - Amouyel, Philippe
A1  - Andersson, Ehm Astrid
A1  - Bennett, Amanda J.
A1  - Blakemore, Alexandra I. F.
A1  - Buxton, Jessica L.
A1  - Dallongeville, Jean
A1  - Das, Shikta
A1  - de Geus, Eco J. C.
A1  - Estivill, Xavier
A1  - Flexeder, Claudia
A1  - Froguel, Philippe
A1  - Geller, Frank
A1  - Godfrey, Keith M.
A1  - Gottrand, Frederic
A1  - Groves, Christopher J.
A1  - Hansen, Torben
A1  - Hirschhorn, Joel N.
A1  - Hofman, Albert
A1  - Hollegaard, Mads V.
A1  - Hougaard, David M.
A1  - Hyppoenen, Elina
A1  - Inskip, Hazel M.
A1  - Isaacs, Aaron
A1  - Jorgensen, Torben
A1  - Kanaka-Gantenbein, Christina
A1  - Kemp, John P.
A1  - Kiess, Wieland
A1  - Kilpelainen, Tuomas O.
A1  - Klopp, Norman
A1  - Knight, Bridget A.
A1  - Kuzawa, Christopher W.
A1  - McMahon, George
A1  - Newnham, John P.
A1  - Niinikoski, Harri
A1  - Oostra, Ben A.
A1  - Pedersen, Louise
A1  - Postma, Dirkje S.
A1  - Ring, Susan M.
A1  - Rivadeneira, Fernando
A1  - Robertson, Neil R.
A1  - Sebert, Sylvain
A1  - Simell, Olli
A1  - Slowinski, Torsten
A1  - Tiesler, Carla M. T.
A1  - Toenjes, Anke
A1  - Vaag, Allan
A1  - Viikari, Jorma S.
A1  - Vink, Jacqueline M.
A1  - Vissing, Nadja Hawwa
A1  - Wareham, Nicholas J.
A1  - Willemsen, Gonneke
A1  - Witte, Daniel R.
A1  - Zhang, Haitao
A1  - Zhao, Jianhua
A1  - Wilson, James F.
A1  - Stumvoll, Michael
A1  - Prentice, Andrew M.
A1  - Meyer, Brian F.
A1  - Pearson, Ewan R.
A1  - Boreham, Colin A. G.
A1  - Cooper, Cyrus
A1  - Gillman, Matthew W.
A1  - Dedoussis, George V.
A1  - Moreno, Luis A.
A1  - Pedersen, Oluf
A1  - Saarinen, Maiju
A1  - Mohlke, Karen L.
A1  - Boomsma, Dorret I.
A1  - Saw, Seang-Mei
A1  - Lakka, Timo A.
A1  - Koerner, Antje
A1  - Loos, Ruth J. F.
A1  - Ong, Ken K.
A1  - Vollenweider, Peter
A1  - van Duijn, Cornelia M.
A1  - Koppelman, Gerard H.
A1  - Hattersley, Andrew T.
A1  - Holloway, John W.
A1  - Hocher, Berthold
A1  - Heinrich, Joachim
A1  - Power, Chris
A1  - Melbye, Mads
A1  - Guxens, Monica
A1  - Pennell, Craig E.
A1  - Bonnelykke, Klaus
A1  - Bisgaard, Hans
A1  - Eriksson, Johan G.
A1  - Widen, Elisabeth
A1  - Hakonarson, Hakon
A1  - Uitterlinden, Andre G.
A1  - Pouta, Anneli
A1  - Lawlor, Debbie A.
A1  - Smith, George Davey
A1  - Frayling, Timothy M.
A1  - McCarthy, Mark I.
A1  - Grant, Struan F. A.
A1  - Jaddoe, Vincent W. V.
A1  - Jarvelin, Marjo-Riitta
A1  - Timpson, Nicholas J.
A1  - Prokopenko, Inga
A1  - Freathy, Rachel M.
T1  - New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
JF  - Nature genetics
N2  - Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood(1). Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits(2). In an expanded genome-wide association metaanalysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
Y1  - 2013
U6  - https://doi.org/10.1038/ng.2477
SN  - 1061-4036
VL  - 45
IS  - 1
SP  - 76
EP  - U115
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - GEN
A1  - Gorski, Mathias
A1  - Jung, Bettina
A1  - Li, Yong
A1  - Matias-Garcia, Pamela R.
A1  - Wuttke, Matthias
A1  - Coassin, Stefan
A1  - Thio, Chris H. L.
A1  - Kleber, Marcus E.
A1  - Winkler, Thomas W.
A1  - Wanner, Veronika
A1  - Chai, Jin-Fang
A1  - Chu, Audrey Y.
A1  - Cocca, Massimiliano
A1  - Feitosa, Mary F.
A1  - Ghasemi, Sahar
A1  - Hoppmann, Anselm
A1  - Horn, Katrin
A1  - Li, Man
A1  - Nutile, Teresa
A1  - Scholz, Markus
A1  - Sieber, Karsten B.
A1  - Teumer, Alexander
A1  - Tin, Adrienne
A1  - Wang, Judy
A1  - Tayo, Bamidele O.
A1  - Ahluwalia, Tarunveer S.
A1  - Almgren, Peter
A1  - Bakker, Stephan J. L.
A1  - Banas, Bernhard
A1  - Bansal, Nisha
A1  - Biggs, Mary L.
A1  - Boerwinkle, Eric
A1  - Böttinger, Erwin
A1  - Brenner, Hermann
A1  - Carroll, Robert J.
A1  - Chalmers, John
A1  - Chee, Miao-Li
A1  - Chee, Miao-Ling
A1  - Cheng, Ching-Yu
A1  - Coresh, Josef
A1  - de Borst, Martin H.
A1  - Degenhardt, Frauke
A1  - Eckardt, Kai-Uwe
A1  - Endlich, Karlhans
A1  - Franke, Andre
A1  - Freitag-Wolf, Sandra
A1  - Gampawar, Piyush
A1  - Gansevoort, Ron T.
A1  - Ghanbari, Mohsen
A1  - Gieger, Christian
A1  - Hamet, Pavel
A1  - Ho, Kevin
A1  - Hofer, Edith
A1  - Holleczek, Bernd
A1  - Foo, Valencia Hui Xian
A1  - Hutri-Kahonen, Nina
A1  - Hwang, Shih-Jen
A1  - Ikram, M. Arfan
A1  - Josyula, Navya Shilpa
A1  - Kahonen, Mika
A1  - Khor, Chiea-Chuen
A1  - Koenig, Wolfgang
A1  - Kramer, Holly
A1  - Kraemer, Bernhard K.
A1  - Kuehnel, Brigitte
A1  - Lange, Leslie A.
A1  - Lehtimaki, Terho
A1  - Lieb, Wolfgang
A1  - Loos, Ruth J. F.
A1  - Lukas, Mary Ann
A1  - Lyytikainen, Leo-Pekka
A1  - Meisinger, Christa
A1  - Meitinger, Thomas
A1  - Melander, Olle
A1  - Milaneschi, Yuri
A1  - Mishra, Pashupati P.
A1  - Mononen, Nina
A1  - Mychaleckyj, Josyf C.
A1  - Nadkarni, Girish N.
A1  - Nauck, Matthias
A1  - Nikus, Kjell
A1  - Ning, Boting
A1  - Nolte, Ilja M.
A1  - O'Donoghue, Michelle L.
A1  - Orho-Melander, Marju
A1  - Pendergrass, Sarah A.
A1  - Penninx, Brenda W. J. H.
A1  - Preuss, Michael H.
A1  - Psaty, Bruce M.
A1  - Raffield, Laura M.
A1  - Raitakari, Olli T.
A1  - Rettig, Rainer
A1  - Rheinberger, Myriam
A1  - Rice, Kenneth M.
A1  - Rosenkranz, Alexander R.
A1  - Rossing, Peter
A1  - Rotter, Jerome
A1  - Sabanayagam, Charumathi
A1  - Schmidt, Helena
A1  - Schmidt, Reinhold
A1  - Schoettker, Ben
A1  - Schulz, Christina-Alexandra
A1  - Sedaghat, Sanaz
A1  - Shaffer, Christian M.
A1  - Strauch, Konstantin
A1  - Szymczak, Silke
A1  - Taylor, Kent D.
A1  - Tremblay, Johanne
A1  - Chaker, Layal
A1  - van der Harst, Pim
A1  - van der Most, Peter J.
A1  - Verweij, Niek
A1  - Voelker, Uwe
A1  - Waldenberger, Melanie
A1  - Wallentin, Lars
A1  - Waterworth, Dawn M.
A1  - White, Harvey D.
A1  - Wilson, James G.
A1  - Wong, Tien-Yin
A1  - Woodward, Mark
A1  - Yang, Qiong
A1  - Yasuda, Masayuki
A1  - Yerges-Armstrong, Laura M.
A1  - Zhang, Yan
A1  - Snieder, Harold
A1  - Wanner, Christoph
A1  - Boger, Carsten A.
A1  - Kottgen, Anna
A1  - Kronenberg, Florian
A1  - Pattaro, Cristian
A1  - Heid, Iris M.
T1  - Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline
T2  - Zweitveröffentlichungen der Universität Potsdam : Reihe der Digital Engineering Fakultät
N2  - Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m(2)/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m(2) at follow-up among those with eGFRcrea 60 mL/min/1.73m(2) or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or (LARP4B). Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.
T3  - Zweitveröffentlichungen der Universität Potsdam : Reihe der Digital Engineering Fakultät - 19 
KW  - acute kidney injury
KW  - end-stage kidney disease
KW  - genome-wide association
KW  - study
KW  - rapid eGFRcrea decline
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-565379
IS  - 19
ER  - 
TY  - JOUR
A1  - Gorski, Mathias
A1  - Jung, Bettina
A1  - Li, Yong
A1  - Matias-Garcia, Pamela R.
A1  - Wuttke, Matthias
A1  - Coassin, Stefan
A1  - Thio, Chris H. L.
A1  - Kleber, Marcus E.
A1  - Winkler, Thomas W.
A1  - Wanner, Veronika
A1  - Chai, Jin-Fang
A1  - Chu, Audrey Y.
A1  - Cocca, Massimiliano
A1  - Feitosa, Mary F.
A1  - Ghasemi, Sahar
A1  - Hoppmann, Anselm
A1  - Horn, Katrin
A1  - Li, Man
A1  - Nutile, Teresa
A1  - Scholz, Markus
A1  - Sieber, Karsten B.
A1  - Teumer, Alexander
A1  - Tin, Adrienne
A1  - Wang, Judy
A1  - Tayo, Bamidele O.
A1  - Ahluwalia, Tarunveer S.
A1  - Almgren, Peter
A1  - Bakker, Stephan J. L.
A1  - Banas, Bernhard
A1  - Bansal, Nisha
A1  - Biggs, Mary L.
A1  - Boerwinkle, Eric
A1  - Böttinger, Erwin
A1  - Brenner, Hermann
A1  - Carroll, Robert J.
A1  - Chalmers, John
A1  - Chee, Miao-Li
A1  - Chee, Miao-Ling
A1  - Cheng, Ching-Yu
A1  - Coresh, Josef
A1  - de Borst, Martin H.
A1  - Degenhardt, Frauke
A1  - Eckardt, Kai-Uwe
A1  - Endlich, Karlhans
A1  - Franke, Andre
A1  - Freitag-Wolf, Sandra
A1  - Gampawar, Piyush
A1  - Gansevoort, Ron T.
A1  - Ghanbari, Mohsen
A1  - Gieger, Christian
A1  - Hamet, Pavel
A1  - Ho, Kevin
A1  - Hofer, Edith
A1  - Holleczek, Bernd
A1  - Foo, Valencia Hui Xian
A1  - Hutri-Kahonen, Nina
A1  - Hwang, Shih-Jen
A1  - Ikram, M. Arfan
A1  - Josyula, Navya Shilpa
A1  - Kahonen, Mika
A1  - Khor, Chiea-Chuen
A1  - Koenig, Wolfgang
A1  - Kramer, Holly
A1  - Kraemer, Bernhard K.
A1  - Kuehnel, Brigitte
A1  - Lange, Leslie A.
A1  - Lehtimaki, Terho
A1  - Lieb, Wolfgang
A1  - Loos, Ruth J. F.
A1  - Lukas, Mary Ann
A1  - Lyytikainen, Leo-Pekka
A1  - Meisinger, Christa
A1  - Meitinger, Thomas
A1  - Melander, Olle
A1  - Milaneschi, Yuri
A1  - Mishra, Pashupati P.
A1  - Mononen, Nina
A1  - Mychaleckyj, Josyf C.
A1  - Nadkarni, Girish N.
A1  - Nauck, Matthias
A1  - Nikus, Kjell
A1  - Ning, Boting
A1  - Nolte, Ilja M.
A1  - O'Donoghue, Michelle L.
A1  - Orho-Melander, Marju
A1  - Pendergrass, Sarah A.
A1  - Penninx, Brenda W. J. H.
A1  - Preuss, Michael H.
A1  - Psaty, Bruce M.
A1  - Raffield, Laura M.
A1  - Raitakari, Olli T.
A1  - Rettig, Rainer
A1  - Rheinberger, Myriam
A1  - Rice, Kenneth M.
A1  - Rosenkranz, Alexander R.
A1  - Rossing, Peter
A1  - Rotter, Jerome
A1  - Sabanayagam, Charumathi
A1  - Schmidt, Helena
A1  - Schmidt, Reinhold
A1  - Schoettker, Ben
A1  - Schulz, Christina-Alexandra
A1  - Sedaghat, Sanaz
A1  - Shaffer, Christian M.
A1  - Strauch, Konstantin
A1  - Szymczak, Silke
A1  - Taylor, Kent D.
A1  - Tremblay, Johanne
A1  - Chaker, Layal
A1  - van der Harst, Pim
A1  - van der Most, Peter J.
A1  - Verweij, Niek
A1  - Voelker, Uwe
A1  - Waldenberger, Melanie
A1  - Wallentin, Lars
A1  - Waterworth, Dawn M.
A1  - White, Harvey D.
A1  - Wilson, James G.
A1  - Wong, Tien-Yin
A1  - Woodward, Mark
A1  - Yang, Qiong
A1  - Yasuda, Masayuki
A1  - Yerges-Armstrong, Laura M.
A1  - Zhang, Yan
A1  - Snieder, Harold
A1  - Wanner, Christoph
A1  - Boger, Carsten A.
A1  - Kottgen, Anna
A1  - Kronenberg, Florian
A1  - Pattaro, Cristian
A1  - Heid, Iris M.
T1  - Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline
JF  - Kidney international : official journal of the International Society of Nephrology
N2  - Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m(2)/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m(2) at follow-up among those with eGFRcrea 60 mL/min/1.73m(2) or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or (LARP4B). Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.
KW  - acute kidney injury
KW  - end-stage kidney disease
KW  - genome-wide association
KW  - study
KW  - rapid eGFRcrea decline
Y1  - 2020
U6  - https://doi.org/10.1016/j.kint.2020.09.030
SN  - 0085-2538
SN  - 1523-1755
VL  - 99
IS  - 4
SP  - 926
EP  - 939
PB  - Elsevier
CY  - New York
ER  -