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

Title: CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
Authors: Mace, A
Tuke, MA
Deelen, P
Kristiansson, K
Mattsson, H
Noukas, M
Sapkota, Y
Schick, U
Porcu, E
Rueger, S
McDaid, AF
Porteous, D
Winkler, TW
Salvi, E
Shrine, N
Liu, X
Ang, WQ
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
Magi, R
Kriebel, J
Mueller-Nurasyid, M
Perola, M
Nieminen, M
Lokki, M-L
Kahonen, M
Viikari, JS
Geller, F
Lahti, J
Palotie, A
Koponen, P
Lundqvist, A
Rissanen, H
Bottinger, EP
Afaq, S
Wojczynski, MK
Lenzini, P
Nolte, IM
Sparso, T
Schupf, N
Christensen, K
Perls, TT
Newman, AB
Werge, T
Snieder, H
Spector, TD
Chambers, JC
Koskinen, S
Melbye, M
Raitakari, OT
Lehtimaki, 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
Mannisto, S
Murray, A
Bochud, M
Jacquemont, S
Rivadeneira, F
Hansen, TF
Oldehinkel, AJ
Mangino, M
Province, MA
Deloukas, P
Kooner, JS
Freathy, RM
Pennell, C
Feenstra, B
Strachan, DP
Lettre, G
Hirschhorn, J
Cusi, D
Heid, IM
Hayward, C
Mannik, K
Beckmann, JS
Loos, RJF
Nyholt, DR
Metspalu, A
Eriksson, JG
Weedon, MN
Salomaa, V
Franke, L
Reymond, A
Frayling, TM
Kutalik, Z
Item Type: Journal Article
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.
Issue Date: 29-Sep-2017
Date of Acceptance: 10-Jul-2017
URI: http://hdl.handle.net/10044/1/53471
DOI: https://dx.doi.org/10.1038/s41467-017-00556-x
ISSN: 2041-1723
Publisher: NATURE PUBLISHING GROUP
Journal / Book Title: NATURE COMMUNICATIONS
Volume: 8
Issue: 1
Copyright Statement: © 2017 The Author(s). 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/.
Keywords: Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
BODY-MASS INDEX
WILLIAMS-BEUREN-SYNDROME
GENOME-WIDE ASSOCIATION
DELETION SYNDROME
DEVELOPMENTAL DELAY
HUMAN HEIGHT
VARIANTS
OBESITY
SNP
MICRODUPLICATION
MD Multidisciplinary
Publication Status: Published
Article Number: ARTN 744
Appears in Collections:Faculty of Medicine
Epidemiology, Public Health and Primary Care



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