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

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  • Aurélien Macé
  • Marcus A Tuke
  • Patrick Deelen
  • Kati Kristiansson
  • Hannele Mattsson
  • Margit Nõukas
  • Yadav Sapkota
  • Ursula M Schick
  • Eleonora Porcu
  • Sina Rüeger
  • Aaron F McDaid
  • David J Porteous
  • Thomas W Winkler
  • Erika Salvi
  • Nick Shrine
  • Xueping Liu
  • Wei Q Ang
  • Weihua Zhang
  • Mary F Feitosa
  • Cristina Venturini
  • Peter J van der Most
  • Anders Rosengren
  • Andrew R Wood
  • Robin N Beaumont
  • Edward Samuel Jones
  • Katherine S Ruth
  • Hanieh Yaghootkar
  • Jessica Tyrrell
  • Aki S Havulinna
  • Harmen Boers
  • Reedik Mägi
  • Jennifer Kriebel
  • Martina Müller-Nurasyid
  • Markus Perola
  • Markku Nieminen
  • Marja-Liisa Lokki
  • Mika Kähönen
  • Jorma S Viikari
  • Frank Geller
  • Jari Lahti
  • Aarno Palotie
  • Päivikki Koponen
  • Annamari Lundqvist
  • Harri Rissanen
  • Erwin P Bottinger
  • Saima Afaq
  • Mary K Wojczynski
  • Petra Lenzini
  • Ilja M Nolte
  • Thomas Sparsø
  • Nicole Schupf
  • Kaare Christensen
  • Thomas T Perls
  • Anne B Newman
  • Thomas Werge
  • Harold Snieder
  • Timothy D Spector
  • John C Chambers
  • Seppo Koskinen
  • Mads Melbye
  • Olli T Raitakari
  • Terho Lehtimäki
  • Martin D Tobin
  • Louise V Wain
  • Juha Sinisalo
  • Annette Peters
  • Thomas Meitinger
  • Nicholas G Martin
  • Naomi R Wray
  • Grant W Montgomery
  • Sarah E Medland
  • Morris A Swertz
  • Erkki Vartiainen
  • Katja Borodulin
  • Satu Männistö
  • Anna Murray
  • Murielle Bochud
  • Sebastien Jacquemont
  • Fernando Rivadeneira
  • Thomas F Hansen
  • Albertine J Oldehinkel
  • Massimo Mangino
  • Michael A Province
  • Panos Deloukas
  • Jaspal S Kooner
  • Rachel M Freathy
  • Craig E Pennell
  • Bjarke Feenstra
  • David P Strachan
  • Guillaume Lettre
  • Joel Hirschhorn
  • Daniele Cusi
  • Iris M Heid
  • Caroline Hayward
  • Katrin Männik
  • Jacques S Beckmann
  • Ruth J F Loos
  • Dale R Nyholt
  • Andres Metspalu
  • Johan G Eriksson
  • Michael N Weedon
  • Veikko Salomaa
  • Lude Franke
  • Alexandre Reymond
  • Timothy M Frayling
  • Zoltán Kutalik
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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/m(2) for each Mb of total deletion burden (P = 2.5 × 10(-10), 6.0 × 10(-5), and 2.9 × 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.Individual SNPs have small effects on anthropometric traits, yet the impact of CNVs has remained largely unknown. Here, Kutalik and co-workers perform a large-scale genome-wide meta-analysis of structural variation and find rare CNVs associated with height, weight and BMI with large effect sizes.

Original languageEnglish
JournalNature Communications
Volume8
Issue number1
Pages (from-to)744
ISSN2041-1723
DOIs
Publication statusPublished - 29 Sep 2017

    Research areas

  • Journal Article

ID: 51785987