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

Détails

Ressource 1Télécharger: BIB_220FBAC01D96.pdf (1190.74 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_220FBAC01D96
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Périodique
Nature communications
Auteur(s)
Macé A., Tuke M.A., Deelen P., Kristiansson K., Mattsson H., Nõukas M., Sapkota Y., Schick U., Porcu E., Rüeger 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., Mägi R., Kriebel J., Müller-Nurasyid M., Perola M., Nieminen M., Lokki M.L., Kähönen 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., Sparsø 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., Lehtimäki 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., Männistö 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., Männik K., Beckmann J.S., Loos RJF, Nyholt D.R., Metspalu A., Eriksson J.G., Weedon M.N., Salomaa V., Franke L., Reymond A., Frayling T.M., Kutalik Z.
ISSN
2041-1723 (Electronic)
ISSN-L
2041-1723
Statut éditorial
Publié
Date de publication
29/09/2017
Peer-reviewed
Oui
Volume
8
Numéro
1
Pages
744
Langue
anglais
Notes
Publication types: Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Résumé
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.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.

Mots-clé
Anthropometry, Body Height/genetics, Body Mass Index, Body Size/genetics, Body Weight/genetics, Chromosomes, Human, Pair 1/genetics, Chromosomes, Human, Pair 11/genetics, Chromosomes, Human, Pair 16/genetics, Chromosomes, Human, Pair 18/genetics, Chromosomes, Human, Pair 22/genetics, Chromosomes, Human, Pair 3/genetics, Chromosomes, Human, Pair 7/genetics, DNA Copy Number Variations, European Continental Ancestry Group/genetics, Genome-Wide Association Study, Genotype, Humans, Phenotype, Waist-Hip Ratio
Pubmed
Web of science
Open Access
Oui
Création de la notice
23/10/2017 17:06
Dernière modification de la notice
20/08/2019 12:58
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