Mace, Aurelien and Tuke, Marcus A. and Deelen, Patrick and Kristiansson, Kati and Mattsson, Hannele and Noukas, Margit and Sapkota, Yadav and Schick, Ursula and Porcu, Eleonora and Rueger, Sina and McDaid, Aaron F. and Porteous, David and Winkler, Thomas W. and Salvi, Erika and Shrine, Nick and Liu, Xueping and Ang, Wei Q. and Zhang, Weihua and Feitosa, Mary F. and Venturini, Cristina and van der Most, Peter J. and Rosengren, Anders and Wood, Andrew R. and Beaumont, Robin N. and Jones, Samuel E. and Ruth, Katherine S. and Yaghootkar, Hanieh and Tyrrell, Jessica and Havulinna, Aki S. and Boers, Harmen and Magi, Reedik and Kriebel, Jennifer and Mueller-Nurasyid, Martina and Perola, Markus and Nieminen, Markku and Lokki, Marja-Liisa and Kahonen, Mika and Viikari, Jorma S. and Geller, Frank and Lahti, Jari and Palotie, Aarno and Koponen, Paivikki and Lundqvist, Annamari and Rissanen, Harri and Bottinger, Erwin P. and Afaq, Saima and Wojczynski, Mary K. and Lenzini, Petra and Nolte, Ilja M. and Sparso, Thomas and Schupf, Nicole and Christensen, Kaare and Perls, Thomas T. and Newman, Anne B. and Werge, Thomas and Snieder, Harold and Spector, Timothy D. and Chambers, John C. and Koskinen, Seppo and Melbye, Mads and Raitakari, Olli T. and Lehtimaki, Terho and Tobin, Martin D. and Wain, Louise V. and Sinisalo, Juha and Peters, Annette and Meitinger, Thomas and Martin, Nicholas G. and Wray, Naomi R. and Montgomery, Grant W. and Medland, Sarah E. and Swertz, Morris A. and Vartiainen, Erkki and Borodulin, Katja and Mannisto, Satu and Murray, Anna and Bochud, Murielle and Jacquemont, Sebastien and Rivadeneira, Fernando and Hansen, Thomas F. and Oldehinkel, Albertine J. and Mangino, Massimo and Province, Michael A. and Deloukas, Panos and Kooner, Jaspal S. and Freathy, Rachel M. and Pennell, Craig and Feenstra, Bjarke and Strachan, David P. and Lettre, Guillaume and Hirschhorn, Joel and Cusi, Daniele and Heid, Iris M. and Hayward, Caroline and Mannik, Katrin and Beckmann, Jacques S. and Loos, Ruth J. F. and Nyholt, Dale R. and Metspalu, Andres and Eriksson, Johan G. and Weedon, Michael N. and Salomaa, Veikko and Franke, Lude and Reymond, Alexandre and Frayling, Timothy M. and Kutalik, Zoltan (2017) CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. NATURE COMMUNICATIONS, 8: 744. ISSN 2041-1723,
Full text not available from this repository. (Request a copy)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, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (> 2.4 cm), weight ( 5 kg), and body mass index (BMI) (> 3.5 kg/m(2)). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increase in BMI by 0.14 kg/m2 for each Mb of total deletion burden (P = 2.5 x 10(-10), 6.0 x 10(-5), and 2.9 x 10(-3)). Our study provides evidence that the same genes (e.g., MC4R, FIBIN, and FMO5) harbor both common and rare variants affecting body size and that anthropometric traits share genetic loci with developmental and psychiatric disorders.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | BODY-MASS INDEX; WILLIAMS-BEUREN-SYNDROME; GENOME-WIDE ASSOCIATION; DELETION SYNDROME; DEVELOPMENTAL DELAY; HUMAN HEIGHT; VARIANTS; OBESITY; SNP; MICRODUPLICATION; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Dec 2018 13:20 |
| Last Modified: | 25 Feb 2019 15:25 |
| URI: | https://pred.uni-regensburg.de/id/eprint/2153 |
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