; 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 | Item type: | Article | ||||
|---|---|---|---|---|---|
| Journal or Publication Title: | Nature Communications | ||||
| Publisher: | Nature | ||||
| Place of Publication: | LONDON | ||||
| Volume: | 8 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Date: | 2017 | ||||
| Institutions: | Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie | ||||
| Identification Number: |
| ||||
| Keywords: | BODY-MASS INDEX; WILLIAMS-BEUREN-SYNDROME; GENOME-WIDE ASSOCIATION; DELETION SYNDROME; DEVELOPMENTAL DELAY; HUMAN HEIGHT; VARIANTS; OBESITY; SNP; MICRODUPLICATION; | ||||
| 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: | 39763 |

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, ...

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.
Metadata last modified: 25 Nov 2020 15:47
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