Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

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Author
Pattaro, Cristian
Teumer, Alexander
Gorski, Mathias
Chu, Audrey Y.
Li, Man
Mijatovic, Vladan
Garnaas, Maija
Tin, Adrienne
Sorice, Rossella
Li, Yong
Taliun, Daniel
Olden, Matthias
Foster, Meredith
Yang, Qiong
Chen, Ming-Huei
Johnson, Andrew D.
Ko, Yi-An
Fuchsberger, Christian
Tayo, Bamidele
Nalls, Michael
Feitosa, Mary F.
Isaacs, Aaron
Dehghan, Abbas
d'Adamo, Pio
Adeyemo, Adebowale
Dieffenbach, Aida Karina
Zonderman, Alan B.
Nolte, Ilja M.
van der Most, Peter J.
Wright, Alan F.
Shuldiner, Alan R.
Morrison, Alanna C.
Hofman, Albert
Smith, Albert V.
Dreisbach, Albert W.
Franke, Andre
Uitterlinden, Andre G.
Metspalu, Andres
Tonjes, Anke
Lupo, Antonio
Robino, Antonietta
Johansson, Åsa
Demirkan, Ayse
Kollerits, Barbara
Freedman, Barry I.
Ponte, Belen
Oostra, Ben A.
Paulweber, Bernhard
Krämer, Bernhard K.
Mitchell, Braxton D.
Buckley, Brendan M.
Peralta, Carmen A.
Hayward, Caroline
Helmer, Catherine
Rotimi, Charles N.
Shaffer, Christian M.
Müller, Christian
Sala, Cinzia
van Duijn, Cornelia M.
Saint-Pierre, Aude
Ackermann, Daniel
Shriner, Daniel
Ruggiero, Daniela
Toniolo, Daniela
Lu, Yingchang
Cusi, Daniele
Czamara, Darina
Ellinghaus, David
Siscovick, David S.
Ruderfer, Douglas
Gieger, Christian
Grallert, Harald
Rochtchina, Elena
Atkinson, Elizabeth J.
Holliday, Elizabeth G.
Boerwinkle, Eric
Salvi, Erika
Bottinger, Erwin P.
Murgia, Federico
Rivadeneira, Fernando
Ernst, Florian
Kronenberg, Florian
Navis, Gerjan J.
Ehret, George B.
Homuth, Georg
Coassin, Stefan
Thun, Gian-Andri
Pistis, Giorgio
Gambaro, Giovanni
Malerba, Giovanni
Montgomery, Grant W.
Eiriksdottir, Gudny
Jacobs, Gunnar
Li, Guo
Wichmann, H-Erich
Campbell, Harry
Schmidt, Helena
Wallaschofski, Henri
Völzke, Henry
Brenner, Hermann
Kroemer, Heyo K.
Kramer, Holly
Lin, Honghuang
Leach, I. Mateo
Ford, Ian
Guessous, Idris
Rudan, Igor
Prokopenko, Inga
Borecki, Ingrid
Heid, Iris M.
Kolcic, Ivana
Persico, Ivana
Jukema, J. Wouter
Wilson, James F.
Felix, Janine F.
Divers, Jasmin
Lambert, Jean-Charles
Stafford, Jeanette M.
Gaspoz, Jean-Michel
Smith, Jennifer A.
Faul, Jessica D.
Wang, Jie Jin
Ding, Jingzhong
Attia, John
Whitfield, John B.
Chalmers, John
Viikari, Jorma
Coresh, Josef
Denny, Joshua C.
Karjalainen, Juha
Fernandes, Jyotika K.
Endlich, Karlhans
Butterbach, Katja
Keene, Keith L.
Lohman, Kurt
Portas, Laura
Launer, Lenore J.
Lyytikäinen, Leo-Pekka
Yengo, Loic
Franke, Lude
Ferrucci, Luigi
Rose, Lynda M.
Kedenko, Lyudmyla
Rao, Madhumathi
Struchalin, Maksim
Kleber, Marcus E.
Cavalieri, Margherita
Haun, Margot
Cornelis, Marilyn C.
Ciullo, Marina
Pirastu, Mario
de Andrade, Mariza
McEvoy, Mark A.
Woodward, Mark
Adam, Martin
Cocca, Massimiliano
Nauck, Matthias
Imboden, Medea
Waldenberger, Melanie
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Metzger, Marie
Stumvoll, Michael
Evans, Michele K.
Sale, Michele M.
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Martin, Nicholas G.
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Garcia, Melissa
Gaunt, Tom R.
Glazer, Nicole L.
Go, Min Jin
Goel, Anuj
Grässler, Jürgen
Grobbee, Diederick E.
Groop, Leif
Guarrera, Simonetta
Guo, Xiuqing
Hadley, David
Hamsten, Anders
Han, Bok-Ghee
Hardy, Rebecca
Hartikainen, Anna-Liisa
Heath, Simon
Heckbert, Susan R.
Hedblad, Bo
Hercberg, Serge
Hernandez, Dena
Hicks, Andrew A.
Hilton, Gina
Hingorani, Aroon D.
Bolton, Judith A Hoffman
Hopewell, Jemma C.
Howard, Philip
Humphries, Steve E.
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Ikram, M. Arfan
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Jarvelin, Marjo-Riitta
Jackson, Anne U.
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Janipalli, Charles S.
Johnson, Toby
Kathiresan, Sekar
Khaw, Kay-Tee
Kim, Hyung-Lae
Kinra, Sanjay
Kita, Yoshikuni
Kivimaki, Mika
Kooner, Jaspal S.
Kumar, M. J. Kranthi
Kuh, Diana
Kulkarni, Smita R.
Kumari, Meena
Kuusisto, Johanna
Kuznetsova, Tatiana
Laakso, Markku
Laan, Maris
Laitinen, Jaana
Lakatta, Edward G.
Langefeld, Carl D.
Larson, Martin G.
Lathrop, Mark
Lawlor, Debbie A.
Lawrence, Robert W.
Lee, Jong-Young
Lee, Nanette R.
Levy, Daniel
Li, Yali
Longstreth, Will T.
Luan, Jian'an
Lucas, Gavin
Ludwig, Barbara
Mangino, Massimo
Mani, K. Radha
Marmot, Michael G.
Mattace-Raso, Francesco U. S.
Matullo, Giuseppe
McArdle, Wendy L.
McKenzie, Colin A.
Meitinger, Thomas
Melander, Olle
Meneton, Pierre
Meschia, James F.
Miki, Tetsuro
Milaneschi, Yuri
Mohlke, Karen L.
Mooser, Vincent
Morken, Mario A.
Morris, Richard W.
Mosley, Thomas H.
Najjar, Samer
Narisu, Narisu
Nguyen, Khanh-Dung Hoang
Nilsson, Peter
Nyberg, Fredrik
O'Donnell, Christopher J.
Ogihara, Toshio
Ohkubo, Takayoshi
Okamura, Tomonori
Ong, RickTwee-Hee
Ongen, Halit
Onland-Moret, N. Charlotte
O'Reilly, Paul F.
Org, Elin
Orru, Marco
Palmas, Walter
Palmen, Jutta
Palmer, Lyle J.
Palmer, Nicholette D.
Parker, Alex N.
Peden, John F.
Peltonen, Leena
Perola, Markus
Pihur, Vasyl
Platou, Carl G. P.
Plump, Andrew
Prabhakaran, Dorairajan
Psaty, Bruce M.
Raffel, Leslie J.
Rao, Dabeeru C.
Rasheed, Asif
Ricceri, Fulvio
Rice, Kenneth M.
Rosengren, Annika
Rotter, Jerome I.
Rudock, Megan E.
Sõber, Siim
Salako, Tunde
Saleheen, Danish
Salomaa, Veikko
Samani, Nilesh J.
Schwartz, Steven M.
Schwarz, Peter E. H.
Scott, Laura J.
Scott, James
Scuteri, Angelo
Sehmi, Joban S.
Seielstad, Mark
Seshadri, Sudha
Sharma, Pankaj
Shaw-Hawkins, Sue
Shi, Gang
Shrine, Nick R. G.
Sijbrands, Eric J. G.
Sim, Xueling
Singleton, Andrew
Sjögren, Marketa
Smith, Nicholas L.
Artigas, Maria Soler
Spector, Tim D.
Staessen, Jan A.
Stancakova, Alena
Steinle, Nanette I.
Strachan, David P.
Stringham, Heather M.
Sun, Yan V.
Swift, Amy J.
Tabara, Yasuharu
Tai, E-Shyong
Talmud, Philippa J.
Taylor, Andrew
Terzic, Janos
Thelle, Dag S.
Tobin, Martin D.
Tomaszewski, Maciej
Tripathy, Vikal
Tuomilehto, Jaakko
Tzoulaki, Ioanna
Uda, Manuela
Ueshima, Hirotsugu
Uiterwaal, Cuno S. P. M.
Umemura, Satoshi
van der Harst, Pim
van der Schouw, Yvonne T.
van Gilst, Wiek H.
Vartiainen, Erkki
Vasan, Ramachandran S.
Veldre, Gudrun
Verwoert, Germaine C.
Viigimaa, Margus
Vinay, D. G.
Vineis, Paolo
Voight, Benjamin F.
Vollenweider, Peter
Wagenknecht, Lynne E.
Wain, Louise V.
Wang, Xiaoling
Wang, Thomas J.
Wareham, Nicholas J.
Watkins, Hugh
Weder, Alan B.
Whincup, Peter H.
Wiggins, Kerri L.
Witteman, Jacqueline C. M.
Wong, Andrew
Wu, Ying
Yajnik, Chittaranjan S.
Yao, Jie
Young, J. H.
Zelenika, Diana
Zhai, Guangju
Zhang, Weihua
Zhang, Feng
Zhao, Jing Hua
Zhu, Haidong
Zhu, Xiaofeng
Zitting, Paavo
Zukowska-Szczechowska, Ewa
Okada, Yukinori
Wu, Jer-Yuarn
Gu, Dongfeng
Takeuchi, Fumihiko
Takahashi, Atsushi
Maeda, Shiro
Tsunoda, Tatsuhiko
Chen, Peng
Lim, Su-Chi
Wong, Tien-Yin
Liu, Jianjun
Young, Terri L.
Aung, Tin
Teo, Yik-Ying
Kim, Young Jin
Kang, Daehee
Chen, Chien-Hsiun
Tsai, Fuu-Jen
Chang, Li-Ching
Fann, S. -J. Cathy
Mei, Hao
Hixson, James E.
Chen, Shufeng
Katsuya, Tomohiro
Isono, Masato
Albrecht, Eva
Yamamoto, Kazuhiko
Kubo, Michiaki
Nakamura, Yusuke
Kamatani, Naoyuki
Kato, Norihiro
He, Jiang
Chen, Yuan-Tsong
Tanaka, Toshihiro
Reilly, Muredach P
Schunkert, Heribert
Assimes, Themistocles L.
Hall, Alistair
Hengstenberg, Christian
König, Inke R.
Laaksonen, Reijo
McPherson, Ruth
Thompson, John R.
Thorsteinsdottir, Unnur
Ziegler, Andreas
Absher, Devin
Chen, Li
Cupples13, L. Adrienne
Halperin, Eran
Li, Mingyao
Preuss, Michael
Schillert, Arne
Thorleifsson, Gudmar
Wells, George A.
Holm, Hilma
Roberts, Robert
Stewart, Alexandre F. R.
Fortmann, Stephen
Go, Alan
Hlatky, Mark
Iribarren, Carlos
Knowles, Joshua
Myers, Richard
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Sidney, Steven
Risch, Neil
Tang, Hua
Blankenberg, Stefan
Schnabel, Renate
Sinning, Christoph
Lackner, Karl J.
Tiret, Laurence
Nicaud, Viviane
Cambien, Francois
Bickel, Christoph
Rupprecht, Hans J.
Perret, Claire
Proust, Carole
Münzel, Thomas F.
Barbalic, Maja
Chen, Ida Yii-Der
Demissie-Banjaw, Serkalem
Folsom, Aaron
Lumley, Thomas
Marciante, Kristin
Taylor, Kent D.
Volcik, Kelly
Gretarsdottir, Solveig
Gulcher, Jeffrey R.
Kong, Augustine
Stefansson, Kari
Thorgeirsson, Gudmundur
Andersen, Karl
Fischer, Marcus
Grosshennig, Anika
Linsel-Nitschke, Patrick
Stark, Klaus
Schreiber, Stefan
Aherrahrou, Zouhair
Bruse, Petra
Doering, Angela
Klopp, Norman
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Loley, Christina
Medack, Anja
Nahrstedt, Janja
Peters, Annette
Wagner, Arnika K.
Willenborg, Christina
Böhm, Bernhard O.
Dobnig, Harald
Grammer, Tanja B.
Hoffmann, Michael M.
Meinitzer, Andreas
Winkelmann, Bernhard R.
Pilz, Stefan
Renner, Wilfried
Scharnagl, Hubert
Stojakovic, Tatjana
Tomaschitz, Andreas
Winkler, Karl
Guiducci, Candace
Burtt, Noel
Gabriel, Stacey B.
Dandona, Sonny
Jarinova, Olga
Qu, Liming
Wilensky, Robert
Matthai, William
Hakonarson, Hakon H.
Devaney, Joe
Burnett, Mary Susan
Pichard, Augusto D.
Kent, Kenneth M.
Satler, Lowell
Lindsay, Joseph M.
Waksman, Ron
Knouff, Christopher W.
Waterworth, Dawn M.
Walker, Max C.
Epstein, Stephen E.
Rader, Daniel J.
Nelson, Christopher P.
Wright, Benjamin J.
Balmforth, Anthony J.
Ball, Stephen G.
Loehr, Laura R.
Rosamond, Wayne D.
Benjamin, Emelia
Haritunians, Talin
Couper, David
Murabito, Joanne
Wang, Ying A.
Stricker, Bruno H.
Chang, Patricia P.
Willerson, James T.
Felix, Stephan B.
Watzinger, Norbert
Aragam, Jayashri
Zweiker, Robert
Lind, Lars
Rodeheffer, Richard J.
Greiser, Karin Halina
Deckers, Jaap W.
Stritzke, Jan
Ingelsson, Erik
Kullo, Iftikhar
Haerting, Johannes
Reffelmann, Thorsten
Redfield, Margaret M.
Werdan, Karl
Mitchell, Gary F.
Arnett, Donna K.
Gottdiener, John S.
Blettner, Maria
Friedrich, Nele
Kovacs, Peter
Wild, Philipp S.
Froguel, Philippe
Rettig, Rainer
Mägi, Reedik
Biffar, Reiner
Schmidt, Reinhold
Middelberg, Rita P. S.
Carroll, Robert J.
Penninx, Brenda W.
Scott, Rodney J.
Katz, Ronit
Sedaghat, Sanaz
Wild, Sarah H.
Kardia, Sharon L. R.
Ulivi, Sheila
Hwang, Shih-Jen
Enroth, Stefan
Kloiber, Stefan
Trompet, Stella
Stengel, Benedicte
Hancock, Stephen J.
Turner, Stephen T.
Rosas, Sylvia E.
Stracke, Sylvia
Harris, Tamara B.
Zeller, Tanja
Zemunik, Tatijana
Lehtimäki, Terho
Illig, Thomas
Aspelund, Thor
Nikopensius, Tiit
Esko, Tonu
Tanaka, Toshiko
Gyllensten, Ulf
Völker, Uwe
Emilsson, Valur
Vitart, Veronique
Aalto, Ville
Gudnason, Vilmundur
Chouraki, Vincent
Chen, Wei-Min
Igl, Wilmar
März, Winfried
Koenig, Wolfgang
Lieb, Wolfgang
Loos, Ruth J. F.
Liu, Yongmei
Snieder, Harold
Pramstaller, Peter P.
Parsa, Afshin
O'Connell, Jeffrey R.
Susztak, Katalin
Hamet, Pavel
Tremblay, Johanne
de Boer, Ian H.
Böger, Carsten A.
Köttgen, Anna
Kao, W. H. Linda
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1038/ncomms10023Metadata
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Pattaro, C., A. Teumer, M. Gorski, A. Y. Chu, M. Li, V. Mijatovic, M. Garnaas, et al. 2016. “Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.” Nature Communications 7 (1): 10023. doi:10.1038/ncomms10023. http://dx.doi.org/10.1038/ncomms10023.Abstract
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735748/pdf/Terms of Use
This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAACitable link to this page
http://nrs.harvard.edu/urn-3:HUL.InstRepos:26318737
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Nauck, Matthias; Nolte, Ilja M; Nöthen, Markus M; Oozageer, Laticia; Pilz, Stefan; Rayner, Nigel W; Renstrom, Frida; Robertson, Neil R; Rose, Lynda M; Roussel, Ronan; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Schumacher, Fredrick R; Schunkert, Heribert; Scott, Robert A; Sehmi, Joban; Seufferlein, Thomas; Shi, Jianxin; Silventoinen, Karri; Smit, Johannes H; Smith, Albert Vernon; Smolonska, Joanna; Stanton, Alice V; Stirrups, Kathleen; Stott, David J; Stringham, Heather M; Sundström, Johan; Swertz, Morris A; Syvänen, Ann-Christine; Tayo, Bamidele O; Thorleifsson, Gudmar; Tyrer, Jonathan P; van Dijk, Suzanne; van Schoor, Natasja M; van der Velde, Nathalie; van Heemst, Diana; van Oort, Floor VA; Vermeulen, Sita H; Verweij, Niek; Vonk, Judith M; Waite, Lindsay L; Waldenberger, Melanie; Wennauer, Roman; Wilkens, Lynne R; Willenborg, Christina; Wilsgaard, Tom; Wojczynski, Mary K; Wong, Andrew; Wright, Alan F; Zhang, Qunyuan; Arveiler, Dominique; Bakker, Stephan JL; Beilby, John; Bergman, Richard N; Bergmann, Sven; Biffar, Reiner; Blangero, John; Boomsma, Dorret I; Bornstein, Stefan R; Bovet, Pascal; Brambilla, Paolo; Brown, Morris J; Campbell, Harry; Caulfield, Mark J; Chakravarti, Aravinda; Collins, Rory; Collins, Francis S; Crawford, Dana C; Cupples, L Adrienne; Danesh, John; de Faire, Ulf; den Ruijter, Hester M; Erbel, Raimund; Erdmann, Jeanette; Eriksson, Johan G; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Ford, Ian; Forouhi, Nita G; Forrester, Terrence; Gansevoort, Ron T; Gejman, Pablo V; Gieger, Christian; Golay, Alain; Gottesman, Omri; Gudnason, Vilmundur; Gyllensten, Ulf; Haas, David W; Hall, Alistair S; Harris, Tamara B; Hattersley, Andrew T; Heath, Andrew C; Hengstenberg, Christian; Hicks, Andrew A; Hindorff, Lucia A; Hingorani, Aroon D; Hofman, Albert; Hovingh, G Kees; Humphries, Steve E; Hunt, Steven C; Hypponen, Elina; Jacobs, Kevin B; Jarvelin, Marjo-Riitta; Jousilahti, Pekka; Jula, Antti M; Kaprio, Jaakko; Kastelein, John JP; Kayser, Manfred; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M; Kiemeney, Lambertus A; Kooner, Jaspal S; Kooperberg, Charles; Koskinen, Seppo; Kovacs, Peter; Kraja, Aldi T; Kumari, Meena; Kuusisto, Johanna; Lakka, Timo A; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lupoli, Sara; Madden, Pamela AF; Männistö, Satu; Manunta, Paolo; Marette, André; Matise, Tara C; McKnight, Barbara; Meitinger, Thomas; Moll, Frans L; Montgomery, Grant W; Morris, Andrew D; Morris, Andrew P; Murray, Jeffrey C; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J; Ong, Ken K; Ouwehand, Willem H; Pasterkamp, Gerard; Peters, Annette; Pramstaller, Peter P; Price, Jackie F; Qi, Lu; Raitakari, Olli T; Rankinen, Tuomo; Rao, DC; Rice, Treva K; Ritchie, Marylyn; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J; Saramies, Jouko; Sarzynski, Mark A; Schwarz, Peter EH; Sebert, Sylvain; Sever, Peter; Shuldiner, Alan R; Sinisalo, Juha; Steinthorsdottir, Valgerdur; Stolk, Ronald P; Tardif, Jean-Claude; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Virtamo, Jarmo; Vohl, Marie-Claude; Amouyel, Philippe; Asselbergs, Folkert W; Assimes, Themistocles L; Bochud, Murielle; Boehm, Bernhard O; Boerwinkle, Eric; Bottinger, Erwin P; Bouchard, Claude; Cauchi, Stéphane; Chambers, John C; Chanock, Stephen J; Cooper, Richard S; de Bakker, Paul IW; Dedoussis, George; Ferrucci, Luigi; Franks, Paul W; Froguel, Philippe; Groop, Leif C; Haiman, Christopher A; Hamsten, Anders; Hayes, M Geoffrey; Hui, Jennie; Hunter, David J.; Hveem, Kristian; Jukema, J Wouter; Kaplan, Robert C; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; Martin, Nicholas G; März, Winfried; Melbye, Mads; Moebus, Susanne; Munroe, Patricia B; Njølstad, Inger; Oostra, Ben A; Palmer, Colin NA; Pedersen, Nancy L; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Powell, Joseph E; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Reinmaa, Eva; Ridker, Paul M; Rivadeneira, Fernando; Rotter, Jerome I; Saaristo, Timo E; Saleheen, Danish; Schlessinger, David; Slagboom, P Eline; Snieder, Harold; Spector, Tim D; Strauch, Konstantin; Stumvoll, Michael; Tuomilehto, Jaakko; Uusitupa, Matti; van der Harst, Pim; Völzke, Henry; Walker, Mark; Wareham, Nicholas J; Watkins, Hugh; Wichmann, H-Erich; Wilson, James F; Zanen, Pieter; Deloukas, Panos; Heid, Iris M; Lindgren, Cecilia M; Mohlke, Karen L; Speliotes, Elizabeth K; Thorsteinsdottir, Unnur; Barroso, Inês; Fox, Caroline S; North, Kari E; Strachan, David P; Beckmann, Jacques S.; Berndt, Sonja I; Boehnke, Michael; Borecki, Ingrid B; McCarthy, Mark I; Metspalu, Andres; Stefansson, Kari; Uitterlinden, André G; van Duijn, Cornelia M; Franke, Lude; Willer, Cristen J; Price, Alkes L.; Lettre, Guillaume; Loos, Ruth JF; Weedon, Michael N; Ingelsson, Erik; O’Connell, Jeffrey R; Abecasis, Goncalo R; Chasman, Daniel I; Goddard, Michael E; Visscher, Peter M; Hirschhorn, Joel N; Frayling, Timothy M (2014)Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explain one-fifth of heritability for adult height. By testing different numbers of variants in independent ... -
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Sims, Rebecca; van der Lee, Sven J; Naj, Adam C; Bellenguez, Céline; Badarinarayan, Nandini; Jakobsdottir, Johanna; Kunkle, Brian W; Boland, Anne; Raybould, Rachel; Bis, Joshua C; Martin, Eden R; Grenier-Boley, Benjamin; Heilmann-Heimbach, Stefanie; Chouraki, Vincent; Kuzma, Amanda B; Sleegers, Kristel; Vronskaya, Maria; Ruiz, Agustin; Graham, Robert R; Olaso, Robert; Hoffmann, Per; Grove, Megan L; Vardarajan, Badri N; Hiltunen, Mikko; Nöthen, Markus M; White, Charles C; Hamilton-Nelson, Kara L; Epelbaum, Jacques; Maier, Wolfgang; Choi, Seung-Hoan; Beecham, Gary W; Dulary, Cécile; Herms, Stefan; Smith, Albert V; Funk, Cory C; Derbois, Céline; Forstner, Andreas J; Ahmad, Shahzad; Li, Hongdong; Bacq, Delphine; Harold, Denise; Satizabal, Claudia L; Valladares, Otto; Squassina, Alessio; Thomas, Rhodri; Brody, Jennifer A; Qu, Liming; Sánchez-Juan, Pascual; Morgan, Taniesha; Wolters, Frank J; Zhao, Yi; Garcia, Florentino Sanchez; Denning, Nicola; Fornage, Myriam; Malamon, John; Naranjo, Maria Candida Deniz; Majounie, Elisa; Mosley, Thomas H; Dombroski, Beth; Wallon, David; Lupton, Michelle K; Dupuis, Josée; Whitehead, Patrice; Fratiglioni, Laura; Medway, Christopher; Jian, Xueqiu; Mukherjee, Shubhabrata; Keller, Lina; Brown, Kristelle; Lin, Honghuang; Cantwell, Laura B; Panza, Francesco; McGuinness, Bernadette; Moreno-Grau, Sonia; Burgess, Jeremy D; Solfrizzi, Vincenzo; Proitsi, Petra; Adams, Hieab H; Allen, Mariet; Seripa, Davide; Pastor, Pau; Cupples, L Adrienne; Price, Nathan D; Hannequin, Didier; Frank-García, Ana; Levy, Daniel; Chakrabarty, Paramita; Caffarra, Paolo; Giegling, Ina; Beiser, Alexa S; Giedraitis, Vilmantas; Hampel, Harald; Garcia, Melissa E; Wang, Xue; Lannfelt, Lars; Mecocci, Patrizia; Eiriksdottir, Gudny; Crane, Paul K; Pasquier, Florence; Boccardi, Virginia; Henández, Isabel; Barber, Robert C; Scherer, Martin; Tarraga, Lluis; Adams, Perrie M; Leber, Markus; Chen, Yuning; Albert, Marilyn S; Riedel-Heller, Steffi; Emilsson, Valur; Beekly, Duane; Braae, Anne; Schmidt, Reinhold; Blacker, Deborah; Masullo, Carlo; Schmidt, Helena; Doody, Rachelle S; Spalletta, Gianfranco; Jr, W T Longstreth; Fairchild, Thomas J; Bossù, Paola; Lopez, Oscar L; Frosch, Matthew P; Sacchinelli, Eleonora; Ghetti, Bernardino; Yang, Qiong; Huebinger, Ryan M; Jessen, Frank; Li, Shuo; Kamboh, M Ilyas; Morris, John; Sotolongo-Grau, Oscar; Katz, Mindy J; Corcoran, Chris; Dunstan, Melanie; Braddel, Amy; Thomas, Charlene; Meggy, Alun; Marshall, Rachel; Gerrish, Amy; Chapman, Jade; Aguilar, Miquel; Taylor, Sarah; Hill, Matt; Fairén, Mònica Díez; Hodges, Angela; Vellas, Bruno; Soininen, Hilkka; Kloszewska, Iwona; Daniilidou, Makrina; Uphill, James; Patel, Yogen; Hughes, Joseph T; Lord, Jenny; Turton, James; Hartmann, Annette M; Cecchetti, Roberta; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Caltagirone, Carlo; Orfei, Maria Donata; Ciaramella, Antonio; Pichler, Sabrina; Mayhaus, Manuel; Gu, Wei; Lleó, Alberto; Fortea, Juan; Blesa, Rafael; Barber, Imelda S; Brookes, Keeley; Cupidi, Chiara; Maletta, Raffaele Giovanni; Carrell, David; Sorbi, Sandro; Moebus, Susanne; Urbano, Maria; Pilotto, Alberto; Kornhuber, Johannes; Bosco, Paolo; Todd, Stephen; Craig, David; Johnston, Janet; Gill, Michael; Lawlor, Brian; Lynch, Aoibhinn; Fox, Nick C; Hardy, John; Albin, Roger L; Apostolova, Liana G; Arnold, Steven E; Asthana, Sanjay; Atwood, Craig S; Baldwin, Clinton T; Barnes, Lisa L; Barral, Sandra; Beach, Thomas G; Becker, James T; Bigio, Eileen H; Bird, Thomas D; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Burke, James R; Burns, Jeffrey M; Buxbaum, Joseph D; Cairns, Nigel J; Cao, Chuanhai; Carlson, Chris S; Carlsson, Cynthia M; Carney, Regina M; Carrasquillo, Minerva M; Carroll, Steven L; Diaz, Carolina Ceballos; Chui, Helena C; Clark, David G; Cribbs, David H; Crocco, Elizabeth A; DeCarli, Charles; Dick, Malcolm; Duara, Ranjan; Evans, Denis A; Faber, Kelley M; Fallon, Kenneth B; Fardo, David W; Farlow, Martin R; Ferris, Steven; Foroud, Tatiana M; Galasko, Douglas R; Gearing, Marla; Geschwind, Daniel H; Gilbert, John R; Graff-Radford, Neill R; Green, Robert C; Growdon, John H; Hamilton, Ronald L; Harrell, Lindy E; Honig, Lawrence S; Huentelman, Matthew J; Hulette, Christine M; Hyman, Bradley T; Jarvik, Gail P; Abner, Erin; Jin, Lee-Way; Jun, Gyungah; Karydas, Anna; Kaye, Jeffrey A; Kim, Ronald; Kowall, Neil W; Kramer, Joel H; LaFerla, Frank M; Lah, James J; Leverenz, James B; Levey, Allan I; Li, Ge; Lieberman, Andrew P; Lunetta, Kathryn L; Lyketsos, Constantine G; Marson, Daniel C; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McKee, Ann C; Mesulam, Marsel; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Morris, John C; Murrell, Jill R; Myers, Amanda J; O'Bryant, Sid; Olichney, John M; Pankratz, Vernon S; Parisi, Joseph E; Paulson, Henry L; Perry, William; Peskind, Elaine; Pierce, Aimee; Poon, Wayne W; Potter, Huntington; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reisberg, Barry; Reitz, Christiane; Ringman, John M; Roberson, Erik D; Rogaeva, Ekaterina; Rosen, Howard J; Rosenberg, Roger N; Sager, Mark A; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Smith, Amanda G; Sonnen, Joshua A; Spina, Salvatore; Stern, Robert A; Swerdlow, Russell H; Tanzi, Rudolph E; Thornton-Wells, Tricia A; Trojanowski, John Q; Troncoso, Juan C; Van Deerlin, Vivianna M; Van Eldik, Linda J; Vinters, Harry V; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Wilhelmsen, Kirk C; Williamson, Jennifer; Wingo, Thomas S; Woltjer, Randall L; Wright, Clinton B; Yu, Chang-En; Yu, Lei; Garzia, Fabienne; Golamaully, Feroze; Septier, Gislain; Engelborghs, Sebastien; Vandenberghe, Rik; De Deyn, Peter P; Fernadez, Carmen Muñoz; Benito, Yoland Aladro; Thonberg, Hakan; Forsell, Charlotte; Lilius, Lena; Kinhult-Stählbom, Anne; Kilander, Lena; Brundin, RoseMarie; Concari, Letizia; Helisalmi, Seppo; Koivisto, Anne Maria; Haapasalo, Annakaisa; Dermecourt, Vincent; Fievet, Nathalie; Hanon, Olivier; Dufouil, Carole; Brice, Alexis; Ritchie, Karen; Dubois, Bruno; Himali, Jayanadra J; Keene, C Dirk; Tschanz, JoAnn; Fitzpatrick, Annette L; Kukull, Walter A; Norton, Maria; Aspelund, Thor; Larson, Eric B; Munger, Ron; Rotter, Jerome I; Lipton, Richard B; Bullido, María J; Hofman, Albert; Montine, Thomas J; Coto, Eliecer; Boerwinkle, Eric; Petersen, Ronald C; Alvarez, Victoria; Rivadeneira, Fernando; Reiman, Eric M; Gallo, Maura; O'Donnell, Christopher J; Reisch, Joan S; Bruni, Amalia Cecilia; Royall, Donald R; Dichgans, Martin; Sano, Mary; Galimberti, Daniela; St George-Hyslop, Peter; Scarpini, Elio; Tsuang, Debby W; Mancuso, Michelangelo; Bonuccelli, Ubaldo; Winslow, Ashley R; Daniele, Antonio; Wu, Chuang-Kuo; Peters, Oliver; Nacmias, Benedetta; Riemenschneider, Matthias; Heun, Reinhard; Brayne, Carol; Rubinsztein, David C; Bras, Jose; Guerreiro, Rita; Al-Chalabi, Ammar; Shaw, Christopher E; Collinge, John; Mann, David; Tsolaki, Magda; Clarimón, Jordi; Sussams, Rebecca; Lovestone, Simon; O'Donovan, Michael C; Owen, Michael J; Behrens, Timothy W; Mead, Simon; Goate, Alison M; Uitterlinden, Andre G; Holmes, Clive; Cruchaga, Carlos; Ingelsson, Martin; Bennett, David A; Powell, John; Golde, Todd E; Graff, Caroline; De Jager, Philip L; Morgan, Kevin; Ertekin-Taner, Nilufer; Combarros, Onofre; Psaty, Bruce M; Passmore, Peter; Younkin, Steven G; Berr, Claudine; Gudnason, Vilmundur; Rujescu, Dan; Dickson, Dennis W; Dartigues, Jean-François; DeStefano, Anita L; Ortega-Cubero, Sara; Hakonarson, Hakon; Campion, Dominique; Boada, Merce; Kauwe, John Keoni; Farrer, Lindsay A; Van Broeckhoven, Christine; Ikram, M Arfan; Jones, Lesley; Haines, Jonathan L; Tzourio, Christophe; Launer, Lenore J; Escott-Price, Valentina; Mayeux, Richard; Deleuze, Jean-François; Amin, Najaf; Holmans, Peter A; Pericak-Vance, Margaret A; Amouyel, Philippe; van Duijn, Cornelia M; Ramirez, Alfredo; Wang, Li-San; Lambert, Jean-Charles; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D (Springer Science and Business Media LLC, 2017-07-17) -
New genetic loci link adipose and insulin biology to body fat distribution
Shungin, Dmitry; Winkler, Thomas W; Croteau-Chonka, Damien C; Ferreira, Teresa; Locke, Adam E; Mägi, Reedik; Strawbridge, Rona J; Pers, Tune H; Fischer, Krista; Justice, Anne E; Workalemahu, Tsegaselassie; Wu, Joseph M.W.; Buchkovich, Martin L; Heard-Costa, Nancy L; Roman, Tamara S; Drong, Alexander W; Song, Ci; Gustafsson, Stefan; Day, Felix R; Esko, Tonu; Fall, Tove; Kutalik, Zoltán; Luan, Jian’an; Randall, Joshua C; Scherag, André; Vedantam, Sailaja; Wood, Andrew R; Chen, Jin; Fehrmann, Rudolf; Karjalainen, Juha; Kahali, Bratati; Liu, Ching-Ti; Schmidt, Ellen M; Absher, Devin; Amin, Najaf; Anderson, Denise; Beekman, Marian; Bragg-Gresham, Jennifer L; Buyske, Steven; Demirkan, Ayse; Ehret, Georg B; Feitosa, Mary F; Goel, Anuj; Jackson, Anne U; Johnson, Toby; Kleber, Marcus E; Kristiansson, Kati; Mangino, Massimo; Leach, Irene Mateo; Medina-Gomez, Carolina; Palmer, Cameron D; Pasko, Dorota; Pechlivanis, Sonali; Peters, Marjolein J; Prokopenko, Inga; Stančáková, Alena; Sung, Yun Ju; Tanaka, Toshiko; Teumer, Alexander; Van Vliet-Ostaptchouk, Jana V; Yengo, Loïc; Zhang, Weihua; Albrecht, Eva; Ärnlöv, Johan; Arscott, Gillian M; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J; Berne, Christian; Blüher, Matthias; Böhringer, Stefan; Bonnet, Fabrice; Böttcher, Yvonne; Bruinenberg, Marcel; Carba, Delia B; Caspersen, Ida H; Clarke, Robert; Daw, E Warwick; Deelen, Joris; Deelman, Ewa; Delgado, Graciela; Doney, Alex SF; Eklund, Niina; Erdos, Michael R; Estrada, Karol; Eury, Elodie; Friedrich, Nele; Garcia, Melissa E; Giedraitis, Vilmantas; Gigante, Bruna; Go, Alan S; Golay, Alain; Grallert, Harald; Grammer, Tanja B; Gräßler, Jürgen; Grewal, Jagvir; Groves, Christopher J; Haller, Toomas; Hallmans, Goran; Hartman, Catharina A; Hassinen, Maija; Hayward, Caroline; Heikkilä, Kauko; Herzig, Karl-Heinz; Helmer, Quinta; Hillege, Hans L; Holmen, Oddgeir; Hunt, Steven C; Isaacs, Aaron; Ittermann, Till; James, Alan L; Johansson, Ingegerd; Juliusdottir, Thorhildur; Kalafati, Ioanna-Panagiota; Kinnunen, Leena; Koenig, Wolfgang; Kooner, Ishminder K; Kratzer, Wolfgang; Lamina, Claudia; Leander, Karin; Lee, Nanette R; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Mach, François; Magnusson, Patrik KE; Mahajan, Anubha; McArdle, Wendy L; Menni, Cristina; Merger, Sigrun; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Moayyeri, Alireza; Monda, Keri L; Mooijaart, Simon P; Mühleisen, Thomas W; Mulas, Antonella; Müller, Gabriele; Müller-Nurasyid, Martina; Nagaraja, Ramaiah; Nalls, Michael A; Narisu, Narisu; Glorioso, Nicola; Nolte, Ilja M; Olden, Matthias; Rayner, Nigel W; Renstrom, Frida; Ried, Janina S; Robertson, Neil R; Rose, Lynda M; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Sennblad, Bengt; Seufferlein, Thomas; Sitlani, Colleen M; Smith, Albert Vernon; Stirrups, Kathleen; Stringham, Heather M; Sundström, Johan; Swertz, Morris A; Swift, Amy J; Syvänen, Ann-Christine; Tayo, Bamidele O; Thorand, Barbara; Thorleifsson, Gudmar; Tomaschitz, Andreas; Troffa, Chiara; van Oort, Floor VA; Verweij, Niek; Vonk, Judith M; Waite, Lindsay L; Wennauer, Roman; Wilsgaard, Tom; Wojczynski, Mary K; Wong, Andrew; Zhang, Qunyuan; Zhao, Jing Hua; Brennan, Eoin P.; Choi, Murim; Eriksson, Per; Folkersen, Lasse; Franco-Cereceda, Anders; Gharavi, Ali G; Hedman, Åsa K; Hivert, Marie-France; Huang, Jinyan; Kanoni, Stavroula; Karpe, Fredrik; Keildson, Sarah; Kiryluk, Krzysztof; Liang, Liming; Lifton, Richard P; Ma, Baoshan; McKnight, Amy J; McPherson, Ruth; Metspalu, Andres; Min, Josine L; Moffatt, Miriam F; Montgomery, Grant W; Murabito, Joanne M; Nicholson, George; Nyholt, Dale R; Olsson, Christian; Perry, John RB; Reinmaa, Eva; Salem, Rany M; Sandholm, Niina; Schadt, Eric E; Scott, Robert A; Stolk, Lisette; Vallejo, Edgar E.; Westra, Harm-Jan; Zondervan, Krina T; Amouyel, Philippe; Arveiler, Dominique; Bakker, Stephan JL; Beilby, John; Bergman, Richard N; Blangero, John; Brown, Morris J; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chines, Peter S; Claudi-Boehm, Simone; Collins, Francis S; Crawford, Dana C; Danesh, John; de Faire, Ulf; de Geus, Eco JC; Dörr, Marcus; Erbel, Raimund; Eriksson, Johan G; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Forouhi, Nita G; Forrester, Terrence; Franco, Oscar H; Gansevoort, Ron T; Gieger, Christian; Gudnason, Vilmundur; Haiman, Christopher A; Harris, Tamara B; Hattersley, Andrew T; Heliövaara, Markku; Hicks, Andrew A; Hingorani, Aroon D; Hoffmann, Wolfgang; Hofman, Albert; Homuth, Georg; Humphries, Steve E; Hyppönen, Elina; Illig, Thomas; Jarvelin, Marjo-Riitta; Johansen, Berit; Jousilahti, Pekka; Jula, Antti M; Kaprio, Jaakko; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M; Kooner, Jaspal S; Kooperberg, Charles; Kovacs, Peter; Kraja, Aldi T; Kumari, Meena; Kuulasmaa, Kari; Kuusisto, Johanna; Lakka, Timo A; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lyssenko, Valeriya; Männistö, Satu; Marette, André; Matise, Tara C; McKenzie, Colin A; McKnight, Barbara; Musk, Arthur W; Möhlenkamp, Stefan; Morris, Andrew D; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J; Ong, Ken K; Palmer, Lyle J; Penninx, Brenda W; Peters, Annette; Pramstaller, Peter P; Raitakari, Olli T; Rankinen, Tuomo; Rao, DC; Rice, Treva K; Ridker, Paul M; Ritchie, Marylyn D.; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J; Saramies, Jouko; Sarzynski, Mark A; Schwarz, Peter EH; Shuldiner, Alan R; Staessen, Jan A; Steinthorsdottir, Valgerdur; Stolk, Ronald P; Strauch, Konstantin; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Vohl, Marie-Claude; Völker, Uwe; Vollenweider, Peter; Wilson, James F; Witteman, Jacqueline C; Adair, Linda S; Bochud, Murielle; Boehm, Bernhard O; Bornstein, Stefan R; Bouchard, Claude; Cauchi, Stéphane; Caulfield, Mark J; Chambers, John C; Chasman, Daniel I; Cooper, Richard S; Dedoussis, George; Ferrucci, Luigi; Froguel, Philippe; Grabe, Hans-Jörgen; Hamsten, Anders; Hui, Jennie; Hveem, Kristian; Jöckel, Karl-Heinz; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; März, Winfried; Munroe, Patricia B; Njølstad, Inger; Oostra, Ben A; Palmer, Colin NA; Pedersen, Nancy L; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Rivadeneira, Fernando; Saaristo, Timo E; Saleheen, Danish; Sinisalo, Juha; Slagboom, P Eline; Snieder, Harold; Spector, Tim D; Stefansson, Kari; Stumvoll, Michael; Tuomilehto, Jaakko; Uitterlinden, André G; Uusitupa, Matti; van der Harst, Pim; Veronesi, Giovanni; Walker, Mark; Wareham, Nicholas J; Watkins, Hugh; Wichmann, H-Erich; Abecasis, Goncalo R; Assimes, Themistocles L; Berndt, Sonja I; Boehnke, Michael; Borecki, Ingrid B; Deloukas, Panos; Franke, Lude; Frayling, Timothy M; Groop, Leif C; Hunter, David J.; Kaplan, Robert C; O’Connell, Jeffrey R; Qi, Lu; Schlessinger, David; Strachan, David P; Thorsteinsdottir, Unnur; van Duijn, Cornelia M; Willer, Cristen J; Visscher, Peter M; Yang, Jian; Hirschhorn, Joel N; Zillikens, M Carola; McCarthy, Mark I; Speliotes, Elizabeth K; North, Kari E; Fox, Caroline S; Barroso, Inês; Franks, Paul W; Ingelsson, Erik; Heid, Iris M; Loos, Ruth JF; Cupples, L Adrienne; Morris, Andrew P; Lindgren, Cecilia M; Mohlke, Karen L (2014)Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and ...