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CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Macé, Aurélien ; Tuke, Marcus A. ; Deelen, Patrick ; Kristiansson, Kati ; Mattsson, Hannele ; Nõukas, Margit ; Sapkota, Yadav ; Schick, Ursula ; Porcu, Eleonora ; Rüeger, Sina ; McDaid, Aaron F. ; Porteous, David ; Winkler, Thomas W. ; Salvi, Erika ; Shrine, Nick ; Liu, Xueping ; Ang, Wei Q. ; Zhang, Weihua ; Feitosa, Mary F. ; Venturini, Cristina ; van der Most, Peter J. ; Rosengren, Anders ; Wood, Andrew R. ; Beaumont, Robin N. ; Jones, Samuel E. ; Ruth, Katherine S. ; Yaghootkar, Hanieh ; Tyrrell, Jessica ; Havulinna, Aki S. ; Boers, Harmen ; Mägi, Reedik ; Kriebel, Jennifer ; Müller-Nurasyid, Martina ; Perola, Markus ; Nieminen, Markku ; Lokki, Marja-Liisa ; Kähönen, Mika ; Viikari, Jorma S. ; Geller, Frank ; Lahti, Jari ; Palotie, Aarno ; Koponen, Päivikki ; Lundqvist, Annamari ; Rissanen, Harri ; Bottinger, Erwin P. ; Afaq, Saima ; Wojczynski, Mary K. ; Lenzini, Petra ; Nolte, Ilja M. ; Sparsø, Thomas ; Schupf, Nicole ; Christensen, Kaare ; Perls, Thomas T. ; Newman, Anne B. ; Werge, Thomas ; Snieder, Harold ; Spector, Timothy D. ; Chambers, John C. ; Koskinen, Seppo ; Melbye, Mads ; Raitakari, Olli T. ; Lehtimäki, Terho ; Tobin, Martin D. ; Wain, Louise V. ; Sinisalo, Juha ; Peters, Annette ; Meitinger, Thomas ; Martin, Nicholas G. ; Wray, Naomi R. ; Montgomery, Grant W. ; Medland, Sarah E. ; Swertz, Morris A. ; Vartiainen, Erkki ; Borodulin, Katja ; Männistö, Satu ; Murray, Anna ; Bochud, Murielle ; Jacquemont, Sébastien ; Rivadeneira, Fernando ; Hansen, Thomas F. ; Oldehinkel, Albertine J. ; Mangino, Massimo ; Province, Michael A. ; Deloukas, Panos ; Kooner, Jaspal S. ; Freathy, Rachel M. ; Pennell, Craig ; Feenstra, Bjarke ; Strachan, David P. ; Lettre, Guillaume ; Hirschhorn, Joel ; Cusi, Daniele ; Heid, Iris M. ; Hayward, Caroline ; Männik, Katrin ; Beckmann, Jacques S. ; Loos, Ruth J. F. ; Nyholt, Dale R. ; Metspalu, Andres ; Eriksson, Johan G. ; Weedon, Michael N. ; Salomaa, Veikko ; Franke, Lude ; Reymond, Alexandre ; Frayling, Timothy M. ; Kutalik, Zoltán



Abstract

There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, ...

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