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

Show full item record

Permalink

http://hdl.handle.net/10138/227948

Citation

Mace , A , Tuke , M A , Deelen , P , Kristiansson , K , Mattsson , H , Noukas , M , Sapkota , Y , Schick , U , Porcu , E , Rueger , S , McDaid , A F , Porteous , D , Winkler , T W , Salvi , E , Shrine , N , Liu , X , Ang , W Q , Zhang , W , Feitosa , M F , Venturini , C , van der Most , P J , Rosengren , A , Wood , A R , Beaumont , R N , Jones , S E , Ruth , K S , Yaghootkar , H , Tyrrell , J , Havulinna , A S , Boers , H , Magi , R , Kriebel , J , Mueller-Nurasyid , M , Perola , M , Nieminen , M , Lokki , M-L , Kahonen , M , Viikari , J S , Geller , F , Lahti , J , Palotie , A , Koponen , P , Lundqvist , A , Rissanen , H , Bottinger , E P , Afaq , S , Wojczynski , M K , Lenzini , P , Nolte , I M , Sparso , T , Schupf , N , Christensen , K , Perls , T T , Newman , A B , Werge , T , Snieder , H , Spector , T D , Chambers , J C , Koskinen , S , Melbye , M , Raitakari , O T , Lehtimaki , T , Tobin , M D , Wain , L V , Sinisalo , J , Peters , A , Meitinger , T , Martin , N G , Wray , N R , Montgomery , G W , Medland , S E , Swertz , M A , Vartiainen , E , Borodulin , K , Mannisto , S , Murray , A , Bochud , M , Jacquemont , S , Rivadeneira , F , Hansen , T F , Oldehinkel , A J , Mangino , M , Province , M A , Deloukas , P , Kooner , J S , Freathy , R M , Pennell , C , Feenstra , B , Strachan , D P , Lettre , G , Hirschhorn , J , Cusi , D , Heid , I M , Hayward , C , Mannik , K , Beckmann , J S , Loos , R J F , Nyholt , D R , Metspalu , A , Eriksson , J G , Weedon , M N , Salomaa , V , Franke , L , Reymond , A , Frayling , T M & Kutalik , Z 2017 , ' CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits ' , Nature Communications , vol. 8 , 744 . https://doi.org/10.1038/s41467-017-00556-x

Title: CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
Author: Mace, Aurelien; Tuke, Marcus A.; Deelen, Patrick; Kristiansson, Kati; Mattsson, Hannele; Noukas, Margit; Sapkota, Yadav; Schick, Ursula; Porcu, Eleonora; Rueger, 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; Magi, Reedik; Kriebel, Jennifer; Mueller-Nurasyid, Martina; Perola, Markus; Nieminen, Markku; Lokki, Marja-Liisa; Kahonen, Mika; Viikari, Jorma S.; Geller, Frank; Lahti, Jari; Palotie, Aarno; Koponen, Paivikki; Lundqvist, Annamari; Rissanen, Harri; Bottinger, Erwin P.; Afaq, Saima; Wojczynski, Mary K.; Lenzini, Petra; Nolte, Ilja M.; Sparso, 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.; Lehtimaki, 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; Mannisto, Satu; Murray, Anna; Bochud, Murielle; Jacquemont, Sebastien; 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; Mannik, 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, Zoltan
Contributor: University of Helsinki, University of Helsinki
University of Helsinki, University of Helsinki
University of Helsinki, Natl Inst Hlth & Welf
University of Helsinki, Clinicum
University of Helsinki, Medicum
University of Helsinki, Helsinki Collegium for Advanced Studies
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Clinicum
University of Helsinki, University of Helsinki
Date: 2017-09-29
Number of pages: 11
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/227948
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.
Subject: BODY-MASS INDEX
WILLIAMS-BEUREN-SYNDROME
GENOME-WIDE ASSOCIATION
DELETION SYNDROME
DEVELOPMENTAL DELAY
HUMAN HEIGHT
VARIANTS
OBESITY
SNP
MICRODUPLICATION
3111 Biomedicine
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
s41467_017_00556_x.pdf 1.162Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record