Rare and low-frequency coding variants alter human adult height
| Autor: | 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, Rueger, Sina, Thorleifsson, Gudmar, Justice, Anne E, Lamparter, David, Stirrups, Kathleen E, Turcot, Valerie, Young, Kristin L, Winkler, Thomas W, Esko, Tonu, Karaderi, Tugce, Locke, Adam E, Masca, Nicholas GD, Ng, Maggie CY, 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, Blueher, Matthias, Boeing, Heiner, Boerwinkle, Eric, Boeger, 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 IW, de Borst, Gert J, de Denus, Simon, de Groot, Mark CH, de Mutsert, Renee, 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, Heikkila, Kauko, Helgeland, Oyvind, Hernesniemi, Jussi, Hewitt, Alex W, Hocking, Lynne J, Hollensted, Mette, Holmen, Oddgeir L, Hovingh, G Kees, Howson, Joanna MM, Hoyng, Carel B, Huang, Paul L, Hveem, Kristian, Ikram, M Arfan, Ingelsson, Erik, Jackson, Anne U, Jansson, Jan-Hakan, Jarvik, Gail P, Jensen, Gorm B, Jhun, Min A, Jia, Yucheng, Jiang, Xuejuan, Johansson, Stefan, Jorgensen, Marit E, Jorgensen, Torben, Jousilahti, Pekka, Jukema, J Wouter, Kahali, Bratati, Kahn, Rene S, Kahonen, Mika, Kamstrup, Pia R, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon LR, 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, Kury, Sebastien, 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, Lehtimaki, Terho, Lewis, Cora E, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindstrom, Jaana, Linneberg, Allan, Liu, Yeheng, Liu, Yongmei, Lophatananon, Artitaya, Luan, Jian'an, Lubitz, Steven A, Lyytikainen, Leo-Pekka, Mackey, David A, Madden, Pamela AF, Manning, Alisa K, Mannisto, Satu, Marenne, Gaelle, 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, Mueller-Nurasyid, Martina, Munroe, Patricia B, Nalls, Mike A, Nauck, Matthias, Nelson, Christopher P, Neville, Matt, Nielsen, Sune F, Nikus, Kjell, Njolstad, Pal R, Nordestgaard, Borge 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 NA, 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 RB, Person, Thomas N, Pirie, Ailith, Polasek, Ozren, Posthuma, Danielle, Raitakari, Olli T, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F, Reiner, Alex P, Renstrom, 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, Toenjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P, Uher, Rudolf, Uitterlinden, Andre 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, 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, Zoltan, Rivadeneira, Fernando, Loos, Ruth JF, Frayling, Timothy M, Hirschhorn, Joel N, Deloukas, Panos, Lettre, Guillaume, Consortium, EPIC-InterAct, Consortium, EPIC-CVD, Consortium, CHD Exome, Consortium, ExomeBP, Consortium, T2D-Genes, Consortium, GoT2D Genes, Consortium, Global Lipids Genetics, Consortium, ReproGen, Investigators, MAGIC |
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| Přispěvatelé: | 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, Matthia, 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 Coromina, 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, Fotio, Du, Mengmeng, Dunning, Alison M., Easton, Douglas F., Ebeling, Tapani, Edwards, Todd L., Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelo, 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, Vilmanta, Giri, Ayush, Girotto, Giorgia, Gordon, Scott D., Gordon Larsen, Penny, Gorski, Mathia, Grarup, Niel, 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. Kee, 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, Thoma, Komulainen, Pirjo, Kontto, Jukka, Kooner, Jaspal S., Kooperberg, Charle, 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, Lar, 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, Andre, 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, Matthia, 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, Marku, 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, Hart'T, 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, Velez Edwards, Digna R., 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, 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, Clau, Kutalik, Zoltán, Rivadeneira, Fernando, Loos, Ruth J. F., Frayling, Timothy M., Hirschhorn, Joel N., Deloukas, Pano, Lettre, Guillaume, Pharmacoepidemiology and Clinical Pharmacology, ACS - Amsterdam Cardiovascular Sciences, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Internal Medicine, Epidemiology, Obstetrics & Gynecology, Radiology & Nuclear Medicine, Neurology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, British Heart Foundation, Medical Research Council (MRC), Wellcome Trust, National Institute for Health Research, Imperial College Healthcare NHS Trust- BRC Funding, Action on Hearing Loss, Home Office, National Institutes of Health, Public Health England, EPIC-InterAct Consortium, CHD Exome+ Consortium, ExomeBP Consortium, T2D-Genes Consortium, GoT2D Genes Consortium, Global Lipids Genetics Consortium, ReproGen Consortium, MAGIC Investigators, Physiology, Human genetics, APH - Personalized Medicine, APH - Aging & Later Life, Epidemiology and Data Science, Amsterdam Reproduction & Development (AR&D) |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male ReproGen Consortium Multifactorial Inheritance Genome-wide association study Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] Androgen ADAMTS Proteins Gene Frequency Missing heritability problem MISSING HERITABILITY Receptors 2.1 Biological and endogenous factors Pregnancy-Associated Plasma Protein-A Aetiology Non-U.S. Gov't Glycosaminoglycans Genetics Multidisciplinary Genome CHD Exome+ Consortium Medicine (all) Research Support Non-U.S. Gov't T2D-Genes Consortium Global Lipids Genetics Consortium Multidisciplinary Sciences Phenotype NADPH Oxidase 4 Receptors Androgen Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] Interferon Regulatory Factors Science & Technology - Other Topics Intercellular Signaling Peptides and Proteins Female Proteoglycans EPIC-InterAct Consortium ExomeBP Consortium Common disease-common variant Human Adult General Science & Technology Biology Development Research Support Article GENETIC ARCHITECTURE N.I.H 03 medical and health sciences MAGIC Investigators Research Support N.I.H. Extramural Somatomedins Genetic variation MD Multidisciplinary Journal Article gene height rare Humans Hedgehog Proteins Interleukin-11 Receptor alpha Subunit Allele GENOME-WIDE ASSOCIATION Gene Allele frequency Alleles Genetic association Genetic association study Glycoproteins Science & Technology MUTATIONS Genome Human ta1184 Human Genome Extramural Genetic Variation NADPH Oxidases ta3121 Body Height INTERLEUKIN-11 Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] MICE 030104 developmental biology GoT2D Genes Consortium Proteolysis Procollagen N-Endopeptidase Cell Adhesion Molecules |
| Zdroj: | Nature, 542, 186-190 Marouli, E, Graff, M, Medina-Gomez, C, Lo, K S, Wood, A R, Kjaer, T R, Fine, R S, Lu, Y, Schurmann, C, Highland, H M, Rüeger, S, Thorleifsson, G, Justice, A E, Lamparter, D, Stirrups, K E, Turcot, V, Young, K L, Winkler, T W, Esko, T, Karaderi, T, Locke, A E, Masca, N G D, Ng, M C Y, Mudgal, P, Rivas, M A, Vedantam, S, Mahajan, A, Guo, X, Abecasis, G, Aben, K K, Adair, L S, Alam, D S, Albrecht, E, Allin, K H, Allison, M, Amouyel, P, Appel, E V, Arveiler, D, Asselbergs, F W, Auer, P L, Balkau, B, Banas, B, Bang, L E, Benn, M, Bergmann, S, Bielak, L F, Blüher, M, Li, J, Posthuma, D, van Schoor, N M & EPIC-InterAct Consortium 2017, ' Rare and low-frequency coding variants alter human adult height ', Nature, vol. 542, no. 7640, pp. 186-190 . https://doi.org/10.1038/nature21039 Marouli, E, Graff, M, Medina-Gomez, C, Lo, K S, Wood, A R, Kjær, T R, Fine, R S, Lu, Y, Schurmann, C, Highland, H M, Rüeger, S, Thorleifsson, G, Justice, A E, Lamparter, D, Stirrups, K E, Turcot, V, Young, K L, Winkler, T W, Esko, T, Karaderi, T, Locke, A E, Masca, N G D, Ng, M C Y, Mudgal, P, Rivas, M A, Vedantam, S, Mahajan, A, Guo, X, Abecasis, G R, Aben, K K, Adair, L S, Alam, D S, Albrecht, E, Allin, K H, Allison, M A, Amouyel, P, Appel, E V, Arveiler, D, Asselbergs, F W, Auer, P L, Balkau, B, Banas, B, Bang, L E, Benn, M, Bergmann, S, Bielak, L F, Blüher, M, Boeing, H, Boerwinkle, E, Jørgensen, T & EPIC-InterAct Consortium 2017, ' Rare and low-frequency coding variants alter human adult height ', Nature, vol. 542, no. 7640, pp. 186-190 . https://doi.org/10.1038/nature21039 Marouli, E, Graff, M, Medina-Gomez, C, Lo, K S, Wood, A R, Kjaer, T R, Fine, R S, Lu, Y, Schurmann, C, Highland, H M, Rüeger, S, Thorleifsson, G, Justice, A E, Lamparter, D, Stirrups, K E, Turcot, V, Young, K L, Winkler, T W, Esko, T, Karaderi, T, Locke, A E, Masca, N G D, Ng, M C Y, Mudgal, P, Rivas, M A, Vedantam, S, Mahajan, A, Guo, X, Abecasis, G, Aben, K K, Adair, L S, Alam, D S, Albrecht, E, Allin, K H, Allison, M, Amouyel, P, Appel, E V, Arveiler, D, Asselbergs, F W, Auer, P L, Balkau, B, Banas, B, Bang, L E, Benn, M, Bergmann, S, Bielak, L F, Blüher, M, Boeing, H, Boerwinkle, E, Posthuma, D & EPIC-InterAct Consortium 2017, ' Rare and low-frequency coding variants alter human adult height ', Nature, vol. 542, no. 7640, pp. 186-190 . https://doi.org/10.1038/nature21039 NATURE Nature, 542(7640), 186-190. Nature Publishing Group Nature 542, 186-190 (2017) Nature Nature, vol 542, iss 7640 Marouli, E, Graff, M, Medina-Gómez, C, Lo, K S, Wood, A R, Kjaer, T R, Fine, R S, Lu, Y, Schurmann, C, Highland, H M, Rüeger, S, Thorleifsson, G, Justice, A E, Lamparter, D, Stirrups, K E, Turcot, V, Young, K L, Winkler, T W, Esko, T, Karaderi, T, Locke, A E, Masca, N G D, Ng, M C Y, Mudgal, P, Rivas, M A, Vedantam, S, Mahajan, A, Guo, X, Abecasis, G R, Aben, K K, Adair, L S, Alam, D S, Albrecht, E, Allin, K H, Allison, M A, Amouyel, P, Appel, E V R, Arveiler, D, Asselbergs, F W, Auer, P L, Balkau, B, Banas, B, Bang, L E, Benn, M, Bergmann, S, Brandslund, I, Christensen, C, Hansen, T, Jensen, G B, Jørgensen, M E & EPIC-InterAct Consortium 2017, ' Rare and low-frequency coding variants alter human adult height ', Nature, vol. 542, no. 7640, pp. 186-190 . https://doi.org/10.1038/nature21039 Marouli, E, Graff, M, Medina-Gómez, C, Lo, K S, Wood, A R, Kjaer, T R, Fine, R S, Lu, Y, Schurmann, C, Highland, H M, Rüeger, S, Thorleifsson, G, Justice, A E, Lamparter, D, Stirrups, K E, Turcot, V, Young, K L, Winkler, T W, Esko, T, Karaderi, T, Locke, A E, Masca, N G D, Ng, M C Y, Mudgal, P, Rivas, M A, Vedantam, S, Mahajan, A, Guo, X, Abecasis, G R, Aben, K K, Adair, L S, Alam, D S, Albrecht, E, Allin, K H, Allison, M A, Amouyel, P, Appel, E V, Arveiler, D, Asselbergs, F W, Auer, P L, Balkau, B, Banas, B, Bang, L E, Benn, M, Bergmann, S M, Bielak, L F, Blüher, M, Boeing, H, Boerwinkle, E, Oxvig, C & EPIC InterAct Consortium 2017, ' Rare and low-frequency coding variants alter human adult height ', Nature, vol. 542, no. 7640, pp. 186-190 . https://doi.org/10.1038/nature21039 Marouli, E, Graff, M, Medina-gomez, C, Lo, K S, Wood, A R, Kjaer, T R, Fine, R S, Lu, Y, Schurmann, C, Highland, H M, Rüeger, S, Thorleifsson, G, Justice, A E, Lamparter, D, Stirrups, K E, Turcot, V, Young, K L, Winkler, T W, Esko, T, Karaderi, T, Locke, A E, Masca, N G D, Ng, M C Y, Mudgal, P, Rivas, M A, Vedantam, S, 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Nature Research Nature, vol. 542, no. 7640, pp. 186-190 Marouli, E; Graff, M; Medina-Gomez, C; Lo, KS; Wood, AR; Kjaer, TR; et al.(2017). Rare and low-frequency coding variants alter human adult height. Nature, 542(7640), 186-190. doi: 10.1038/nature21039. UCLA: Retrieved from: http://www.escholarship.org/uc/item/1sq5r8fb Nature, 542, 186. Nature Publishing Group |
| ISSN: | 0028-0836 |
| Popis: | Contains fulltext : 169801.pdf (Publisher’s version ) (Closed access) 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 average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways. |
| Databáze: | OpenAIRE |
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