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Rare and low-frequency coding variants alter human adult height

Marouli, Eirini, Graff, Mariaelisa, Medina-Gomez, Carolina , Lo, Ken Sin, Wood, Andrew R., Kjaer, Troels R., Fine, Rebecca S., Lu, Yingchang, Schurmann, Claudia, Highland, Heather M., Rüeger, Sina, Thorleifsson, Gudmar, Justice, Anne E., Lamparter, David, Stirrups, Kathleen E., Turcot, Valérie, Young, Kristin L., Winkler, Thomas W., Esko, Tõnu, Karaderi, Tugce , Locke, Adam E., Masca, Nicholas G. D., Ng, Maggie C. Y., Mudgal, Poorva, Rivas, Manuel A., Vedantam, Sailaja, Mahajan, Anubha , Guo, Xiuqing, Abecasis, Goncalo, Aben, Katja K., Adair, Linda S., Alam, Dewan S., Albrecht, Eva, Allin, Kristine H. , Allison, Matthew , Amouyel, Philippe , Appel, Emil V., Arveiler, Dominique, Asselbergs, Folkert W. , Auer, Paul L., Balkau, Beverley, Banas, Bernhard, Bang, Lia E., Benn, Marianne , Bergmann, Sven , Bielak, Lawrence F., Blüher, Matthias, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bonnycastle, Lori L., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome , Brilliant, Murray H., Broer, Linda, Burt, Amber A., Butterworth, Adam S. , Carey, David J., Caulfield, Mark J. , Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano , Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Cuellar-Partida, Gabriel, Danesh, John, Davies, Gail, de Bakker, Paul I. W., de Borst, Gert J., de Denus, Simon, de Groot, Mark C. H., de Mutsert, Renée, Deary, Ian J. , Dedoussis, George, Demerath, Ellen W., den Hollander, Anneke I., Dennis, Joe G., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dunning, Alison M., Easton, Douglas F., Ebeling, Tapani, Edwards, Todd L., Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos , Farmaki, Aliki-Eleni, Faul, Jessica D. , Feitosa, Mary F. , Feng, Shuang, Ferrannini, Ele, Ferrario, Marco M. , Ferrieres, Jean , Florez, Jose C., Ford, Ian, Fornage, Myriam, Franks, Paul W. , Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei , Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Giri, Ayush, Girotto, Giorgia, Gordon, Scott D., Gordon-Larsen, Penny, Gorski, Mathias, Grarup, Niels , Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Hansen, Torben , Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T. , Hayward, Caroline, He, Liang, Heid, Iris M., Heikkilä, Kauko, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Hocking, Lynne J., Hollensted, Mette , Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M. , Hoyng, Carel B., Huang, Paul L., Hveem, Kristian, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jhun, Min A., Jia, Yucheng, Jiang, Xuejuan, Johansson, Stefan , Jørgensen, Marit E. , Jørgensen, Torben , Jousilahti, Pekka, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko , Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kee, Frank, Keeman, Renske, Kiemeney, Lambertus A. , Kitajima, Hidetoshi, Kluivers, Kirsten B., Kocher, Thomas, Komulainen, Pirjo, Kontto, Jukka , Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kriebel, Jennifer , Kuivaniemi, Helena , Küry, Sébastien, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lakka, Timo A., Lange, Ethan M., Lange, Leslie A., Langefeld, Carl D., Langenberg, Claudia, Larson, Eric B., Lee, I-Te, Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang , Lin, Honghuang , Lin, Li-An , Lin, Xu , Lind, Lars, Lindström, Jaana, Linneberg, Allan , Liu, Yeheng, Liu, Yongmei, Lophatananon, Artitaya, Luan, Jian'an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Mackey, David A. , Madden, Pamela A. F., Manning, Alisa K., Männistö, Satu, Marenne, Gaëlle , Marten, Jonathan , Martin, Nicholas G., Mazul, Angela L. , Meidtner, Karina, Metspalu, Andres, Mitchell, Paul, Mohlke, Karen L., Mook-Kanamori, Dennis O., Morgan, Anna , Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Nauck, Matthias, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Ntalla, Ioanna, O'Connel, Jeffrey R., Oksa, Heikki, Loohuis, Loes M. Olde, Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Pasterkamp, Gerard , Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L. , Peloso, Gina M., Pennell, Craig E., Perola, Markus , Perry, James A., Perry, John R. B., Person, Thomas N., Pirie, Ailith, Polasek, Ozren, Posthuma, Danielle , Raitakari, Olli T. , Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Ridker, Paul M., Rioux, John D., Robertson, Neil , Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sandow, Kevin, Sapkota, Yadav, Sattar, Naveed , Schmidt, Marjanka K., Schreiner, Pamela J. , Schulze, Matthias B., Scott, Robert A. , Segura-Lepe, Marcelo P., Shah, Svati, Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert Vernon , Smith, Jennifer A. , Southam, Lorraine , Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Steinthorsdottir, Valgerdur, Stringham, Heather M. , Stumvoll, Michael, Surendran, Praveen, ‘t Hart, Leen M., Tansey, Katherine E. , Tardif, Jean-Claude , Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke , Tromp, Gerard, Trompet, Stella , Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G. , Ulivi, Sheila, van der Laan, Sander W., Van Der Leij, Andries R. , van Duijn, Cornelia M., van Schoor, Natasja M., van Setten, Jessica, Varbo, Anette, Varga, Tibor V., Varma, Rohit , Edwards, Digna R. Velez, Vermeulen, Sita H., Vestergaard, Henrik, Vitart, Veronique , Vogt, Thomas F., Vozzi, Diego, Walker, Mark, Wang, Feijie, Wang, Carol A. , Wang, Shuai , Wang, Yiqin , Wareham, Nicholas J. , Warren, Helen R., Wessel, Jennifer, Willems, Sara M. , Wilson, James G., Witte, Daniel R., Woods, Michael O. , Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei , Zhao, Wei , Zheng, He , Zhou, Wei, Rotter, Jerome I, Boehnke, Michael, Kathiresan, Sekar, McCarthy, Mark I., Willer, Cristen J., Stefansson, Kari, Borecki, Ingrid B., Liu, Dajiang J., North, Kari E., Heard-Costa, Nancy L., Pers, Tune H. , Lindgren, Cecilia M. , Oxvig, Claus , Kutalik, Zoltán , Rivadeneira, Fernando, Loos, Ruth J. F., Frayling, Timothy M. , Hirschhorn, Joel N. , Deloukas, Panos, Lettre, Guillaume and make_name_string expected hash reference (2017) Rare and low-frequency coding variants alter human adult height. Nature 542 (7640), pp. 186-190.

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Other URL: http://doi.org/10.1038/nature21039


Abstract

Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the ...

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Item type:Article
Date:2017
Institutions:Medicine > Abteilung für Nephrologie
Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie
Identification Number:
ValueType
10.1038/nature21039DOI
Keywords:GENOME-WIDE ASSOCIATION; MISSING HERITABILITY; GENETIC ARCHITECTURE; INTERLEUKIN-11; MUTATIONS; MICE;
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38699
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