Defining the role of common variation in the genomic and biological architecture of adult human height.
Defining the role of common variation in the genomic and biological architecture of adult human height.
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DOI:
10.1038/ng.3097
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发表时间:
2014-11
期刊:
影响因子:
30.8
通讯作者:
Frayling, Timothy M.
中科院分区:
文献类型:
--
作者:
Wood, Andrew R.;Esko, Tonu;Yang, Jian;Vedantam, Sailaja;Pers, Tune H.;Gustafsson, Stefan;Chun, Audrey Y.;Estrada, Karol;Luan, Jian'an;Kutalik, Zoltan;Amin, Najaf;Buchkovich, Martin L.;Croteau-Chonka, Damien C.;Day, Felix R.;Duan, Yanan;Fall, Tove;Fehrmann, Rudolf;Ferreira, Teresa;Jackson, Anne U.;Karjalainen, Juha;Lo, Ken Sin;Locke, Adam E.;Maegi, Reedik;Mihailov, Evelin;Porcu, Eleonora;Randall, Joshua C.;Scherag, Andre;Vinkhuyzen, Anna A. E.;Westra, Harm-Jan;Winkler, Thomas W.;Workalemahu, Tsegaselassie;Zhao, Jing Hua;Absher, Devin;Albrecht, Eva;Anderson, Denise;Baron, Jeffrey;Beekman, Marian;Demirkan, Ayse;Ehret, Georg B.;Feenstra, Bjarke;Feitosa, Mary F.;Fischer, Krista;Fraser, Ross M.;Goel, Anuj;Gong, Jian;Justice, Anne E.;Kanoni, Stavroula;Kleber, Marcus E.;Kristiansson, Kati;Lim, Unhee;Lotay, Vaneet;Lui, Julian C.;Mangino, Massimo;Leach, Irene Mateo;Medina-Gomez, Carolina;Nalls, Michael A.;Nyholt, Dale R.;Palmer, Cameron D.;Pasko, Dorota;Pechlivanis, Sonali;Prokopenko, Inga;Ried, Janina S.;Ripke, Stephan;Shungin, Dmitry;Stancakova, Alena;Strawbridge, Rona J.;Sung, Yun Ju;Tanaka, Toshiko;Teumer, Alexander;Trompet, Stella;van der Laan, Sander W.;van Setten, Jessica;Van Vliet-Ostaptchouk, Jana V.;Wang, Zhaoming;Yengo, Loic;Zhang, Weihua;Afzal, Uzma;Arnloev, Johan;Arscott, Gillian M.;Bandinelli, Stefania;Barrett, Amy;Bellis, Claire;Bennett, Amanda J.;Berne, Christian;Blueher, Matthias;Bolton, Jennifer L.;Boettcher, Yvonne;Boyd, Heather A.;Bruinenberg, Marcel;Buckley, Brendan M.;Buyske, Steven;Caspersen, Ida H.;Chines, Peter S.;Clarke, Robert;Claudi-Boehm, Simone;Cooper, Matthew;Daw, E. Warwick;De Jong, Pim A.;Deelen, Joris;Delgado, Graciela;Denny, Josh C.;Dhonukshe-Rutten, Rosalie;Dimitriou, Maria;Doney, Alex S. F.;Doerr, Marcus;Eklund, Niina;Eury, Elodie;Folkersen, Lasse;Garcia, Melissa E.;Geller, Frank;Giedraitis, Vilmantas;Go, Alan S.;Grallert, Harald;Grammer, Tanja B.;Graessler, Juergen;Groenberg, Henrik;de Groot, Lisette C. P. G. M.;Groves, Christopher J.;Haessler, Jeffrey;Hall, Per;Haller, Toomas;Hallmans, Goran;Hannemann, Anke;Hartman, Catharina A.;Hassinen, Maija;Hayward, Caroline;Heard-Costa, Nancy L.;Helmer, Quinta;Hemani, Gibran;Henders, Anjali K.;Hillege, Hans L.;Hlatky, Mark A.;Hoffmann, Wolfgang;Hoffmann, Per;Holmen, Oddgeir;Houwing-Duistermaat, Jeanine J.;Illig, Thomas;Isaacs, Aaron;James, Alan L.;Jeff, Janina;Johansen, Bent;Johansson, Asa;Jolley, Jennifer;Juliusdottir, Thorhildur;Junttila, Juhani;Kho, Abel N.;Kinnunen, Leena;Klopp, Norman;Kocher, Thomas;Kratzer, Wolfgang;Lichtner, Peter;Lind, Lars;Lindstroem, Jaana;Lobbens, Stephane;Lorentzon, Mattias;Lu, Yingchang;Lyssenko, Valeriya;Magnusson, Patrik K. E.;Mahajan, Anubha;Maillard, Marc;McArdle, Wendy L.;McKenzie, Colin A.;McLachlan, Stela;McLaren, Paul J.;Menni, Cristina;Merger, Sigrun;Milani, Lili;Moayyeri, Alireza;Monda, Keri L.;Morken, Mario A.;Mueller, Gabriele;Mueller-Nurasyid, Martina;Musk, Arthur W.;Narisu, Narisu;Nauck, Matthias;Nolte, Ilja M.;Noethen, 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;Shin, Jianxin;Silventoinen, Karri;Smit, Johannes H.;Smith, Albert Vernon;Smolonska, Joanna;Stanton, Alice V.;Stirrups, Kathleen;Stott, David J.;Stringham, Heather M.;Sundstrom, Johan;Swertz, Morris A.;Syvanen, 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 V. A.;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 J. L.;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;Ferrieres, 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 J. P.;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;Lehtimaki, Terho;Lupoli, Sara;Madden, Pamela A. F.;Mannisto, Satu;Manunta, Paolo;Marette, Andre;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, D. C.;Rice, Treva K.;Ritchie, Marylyn;Rudan, Igor;Salomaa, Veikko;Samani, Nilesh J.;Saramies, Jouko;Sarzynski, Mark A.;Schwarz, Peter E. H.;Sebert, Sylvain;Sever, Peter;Shuldiner, Alan R.;Sinisalo, Juha;Steinthorsdottir, Valgerdur;Stolk, Ronald P.;Tardif, Jean-Claude;Toenjes, 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, Stephane;Chambers, John C.;Chanock, Stephen J.;Cooper, Richard S.;de Bakker, Paul I. W.;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.;Maerz, Winfried;Melbye, Mads;Moebus, Susanne;Munroe, Patricia B.;Njolstad, Inger;Oostra, Ben A.;Palmer, Colin N. A.;Pedersen, Nancy L.;Perola, Markus;Perusse, 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;Voelzke, 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, Ines;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, Andre G.;van Duijn, Cornelia M.;Franke, Lude;Willer, Cristen J.;Price, Alkes L.;Lettre, Guillaume;Loos, Ruth J. F.;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.
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 studies, we show that the most strongly associated ~2,000, ~3,700 and ~9,500 SNPs explained ~21%, ~24% and ~29% of phenotypic variance. Furthermore, all common variants together captured the majority (60%) of heritability. The 697 variants clustered in 423 loci enriched for genes, pathways, and tissue-types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin, and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
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影响因子:
30.8
作者:
Yang, Jian;Ferreira, Teresa;Morris, Andrew P.;Medland, Sarah E.;Madden, Pamela A. F.;Heath, Andrew C.;Martin, Nicholas G.;Montgomery, Grant W.;Weedon, Michael N.;Loos, Ruth J.;Frayling, Timothy M.;McCarthy, Mark I.;Hirschhorn, Joel N.;Goddard, Michael E.;Visscher, Peter M.
通讯作者:
Visscher, Peter M.
DOI:
10.1375/twin.6.5.399
发表时间:
2003-10-01
期刊:
TWIN RESEARCH
影响因子:
--
作者:
Silventoinen, K;Sammalisto, S;Kaprio, J
通讯作者:
Kaprio, J
影响因子:
30.8
作者:
通讯作者:
--
DOI:
10.1007/bf00848156
发表时间:
1984-01-01
期刊:
WILHELM ROUXS ARCHIVES OF DEVELOPMENTAL BIOLOGY
影响因子:
--
作者:
NUSSLEINVOLHARD, C;WIESCHAUS, E;KLUDING, H
通讯作者:
KLUDING, H
影响因子:
4.5
作者:
Segre, Ayellet V.;Groop, Leif;Altshuler, David
通讯作者:
Altshuler, David