Macé, A;
Tuke, MA;
Deelen, P;
Kristiansson, K;
Mattsson, H;
Nõukas, M;
Sapkota, Y;
Schick, U;
Porcu, E;
Rüeger, S;
et al.
Macé, A; Tuke, MA; Deelen, P; Kristiansson, K; Mattsson, H; Nõukas, M; Sapkota, Y; Schick, U; Porcu, E; Rüeger, S; McDaid, A; Porteous, D; Winkler, TW; Salvi, E; Shrine, N; Liu, X; Ang, W; Zhang, W; Feitosa, MF; Venturini, C; Van der Most, PJ; Rosengren, A; Wood, AR; Beaumont, RN; Jones, SE; Ruth, KS; Yaghootkar, H; Tyrrell, J; Havulinna, AS; Boers, H; Mägi, R; Kriebel, J; Müller-Nurasyid, M; Perola, M; Nieminen, M; Lokki, M-L; Kähönen, M; Viikari, JS; Geller, F; Lahti, J; Palotie, A; Koponen, P; Lundqvist, A; Rissanen, H; Bottinger, EP; Afaq, S; Wojczynski, MK; Lenzini, P; Nolta, IM; Sparsø, T; Schupf, N; Christensen, K; Perls, TT; Newman, AB; Werge, T; Snieder, H; Spector, TD; Chambers, JC; Koskinen, S; Melbye, M; Raitakari, OT; Lehtimäki, T; Tobin, MD; Wain, LV; Sinisalo, J; Peters, A; Meitinger, T; Martin, NG; Wray, NR; Montgomery, GW; Medland, SE; Swertz, MA; Vartiainen, E; Borodulin, K; Männistö, S; Murray, A; Bochud, M; Jacquemont, S; Rivadeneira, F; Hansen, T; Oldehinkel, AJ; Mangino, M; Province, MA; Deloukas, P; Kooner, JS; Freathy, RM; Pennell, C; Feenstra, MA; Strachan, DP; Lettre, G; Hirschhorn, J; Cusi, D; Heid, IM; Hayward, C; Männik, K; Beckmann, JS; Loos, RJF; Nyholt, DR; Metspalu, A; Eriksson, JG; Weedon, MN; Salomaa, V; Franke, L; Reymond, A; Frayling, TM; Kutalik, Z
(2017)
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Nature Communications, 8.
p. 744.
ISSN 2041-1723
https://doi.org/10.1038/s41467-017-00556-x
SGUL Authors: Strachan, David Peter
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/m2). 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 × 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.
Item Type: |
Article
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Additional Information: |
Open Access
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party
material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/
licenses/by/4.0/.
© The Author(s) 2017 |
Keywords: |
MD Multidisciplinary |
SGUL Research Institute / Research Centre: |
Academic Structure > Population Health Research Institute (INPH) |
Journal or Publication Title: |
Nature Communications |
ISSN: |
2041-1723 |
Dates: |
Date | Event |
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29 September 2017 | Published | 10 July 2017 | Accepted |
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Publisher License: |
Publisher's own licence |
Projects: |
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URI: |
https://openaccess.sgul.ac.uk/id/eprint/109020 |
Publisher's version: |
https://doi.org/10.1038/s41467-017-00556-x |
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