SynthesisNature communications2017
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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62citing papers in PubMed
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Who cites it
62 citing papers in PubMed.
- Determinants of functional burden pleiotropy and gene dosage responses across human traits.Nature communications · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Gene dosage differences and non-linear impacts on complex traits.Cell genomics · 2026Article
- Buffering of gene dosage response curves for human complex traits.Cell genomics · 2026Article
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.American journal of human genetics · 2026Article
- Single- and Multi-Trait GWASs Combined with Genetic Parameter Estimation Reveal Candidate Genes for Body Conformation Traits in Sika Deer (Animals : an open access journal from MDPI · 2026Article
- Article
- Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort.Obesity science & practice · 2025Article
- Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes.Nature genetics · 2025Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis.Genome biology · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Genome-wide copy number variation association study in anorexia nervosa.Molecular psychiatry · 2025Article
- Copy number variations in the Brazilian High-Risk Cohort for Mental Conditions.Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) · 2025Article
- Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions.Frontiers in psychiatry · 2025Article
- Germline copy number variants and endometrial cancer risk.Human genetics · 2024Article
- Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.American journal of human genetics · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Gene co-expression network and differential expression analyses reveal key genes for weaning weight in Simmental-Holstein crossbred cattle.Animal biotechnology · 2024Article
- The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction.Human genetics · 2024Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
106 authors.
Aurélien MacéInstitute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.
Marcus A TukeGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Patrick DeelenDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.ORCID http://orcid.org/0000-0002-5654-3966
Kati KristianssonNational Institute for Health and Welfare, Helsinki, 00271, Finland.ORCID http://orcid.org/0000-0003-4688-107X
Hannele MattssonNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Margit NõukasEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Yadav SapkotaQIMR Berghofer Medical Research Institute, Brisbane, 4006, Australia.
Ursula SchickThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Eleonora PorcuSwiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.
Sina RüegerInstitute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.
Aaron F McDaidInstitute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.ORCID http://orcid.org/0000-0002-5209-8869
David PorteousGeneration Scotland, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Thomas W WinklerDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, 93053, Germany.ORCID http://orcid.org/0000-0003-0292-5421
Erika SalviDepartment of Health Sciences, University of Milano, Milano, 20090, Italy.ORCID http://orcid.org/0000-0002-2724-2291
Nick ShrineDepartment of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.ORCID http://orcid.org/0000-0003-3641-4371
Xueping LiuDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, 2300, Denmark.
Wei Q AngSchool of Women's and Infants' Health, The University of Western Australia, Perth, 6009, Australia.
Weihua ZhangDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London, W2 1PG, UK.
Mary F FeitosaDepartment of Genetics, Washington University School of Medicine, St. Louis, 63108, USA.
Cristina VenturiniDepartment of Twin Research and Genetic Epidemiology, King's College London, London, SE1 7EH, UK.
Peter J van der MostDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.ORCID http://orcid.org/0000-0001-8450-3518
Anders RosengrenResearch Institute of Biological Psychiatry, Mental Health Center Sct. Hans, Roskilde, 4000, Denmark.
Andrew R WoodGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Robin N BeaumontGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Samuel E JonesGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Katherine S RuthGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Hanieh YaghootkarGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Jessica TyrrellGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Aki S HavulinnaNational Institute for Health and Welfare, Helsinki, 00271, Finland.ORCID http://orcid.org/0000-0002-4787-8959
Harmen BoersDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.
Reedik MägiEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Jennifer KriebelResearch Unit of Molecular Epidemiology, Helmholtz Zentrum Muenchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.ORCID http://orcid.org/0000-0003-4270-018X
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Markus PerolaNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Markku NieminenHeart and Lung Centre HUCH and Helsinki University, Helsinki, 00029, Finland.
Marja-Liisa LokkiMedicum, Helsinki University, Helsinki, 00014, Finland.
Mika KähönenDepartment of Clinical Physiology, Tampere University Hospital, Tampere, 33521, Finland.
Jorma S ViikariDivision of Medicine, Turku University Hospital, Turku, 20521, Finland.
Frank GellerDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, 2300, Denmark.
Jari LahtiDepartment of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, 00014, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, FI-00014, Finland.
Päivikki KoponenNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Annamari LundqvistNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Harri RissanenNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Erwin P BottingerThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Saima AfaqDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London, W2 1PG, UK.
Mary K WojczynskiDepartment of Genetics, Washington University School of Medicine, St. Louis, 63108, USA.
Petra LenziniDepartment of Genetics, Washington University School of Medicine, St. Louis, 63108, USA.
Ilja M NolteDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.ORCID http://orcid.org/0000-0001-5047-4077
Thomas SparsøResearch Institute of Biological Psychiatry, Mental Health Center Sct. Hans, Roskilde, 4000, Denmark.
Nicole SchupfTaub Institute, College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.
Kaare ChristensenThe Danish Aging Research Center, Epidemiology, University of Southern Denmark, Odense, 5000, Denmark.
Thomas T PerlsSection of Geriatrics, Department of Medicine, Boston University, Boston School of Medicine and Boston Medical Center, Boston, MA, 02118, USA.
Anne B NewmanDepartment of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, 15261, USA.
Thomas WergeResearch Institute of Biological Psychiatry, Mental Health Center Sct. Hans, Roskilde, 4000, Denmark.
Harold SniederDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, SE1 7EH, UK.
John C ChambersDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, Norfolk Place, London, W2 1PG, UK.
Seppo KoskinenNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Mads MelbyeDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, 2300, Denmark.
Olli T RaitakariDepartment of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, 20521, Finland.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere, 33521, Finland.
Martin D TobinDepartment of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.ORCID http://orcid.org/0000-0002-3596-7874
Louise V WainDepartment of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.ORCID http://orcid.org/0000-0003-4951-1867
Juha SinisaloHeart and Lung Centre HUCH and Helsinki University, Helsinki, 00029, Finland.ORCID http://orcid.org/0000-0002-0169-5137
Annette PetersInstitute of Epidemiology II, Helmholtz Zentrum Muenchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Thomas MeitingerInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Naomi R WrayQueensland Brain Institute, University of Queensland, Brisbane, QLD, 4072, Australia.ORCID http://orcid.org/0000-0001-7421-3357
Grant W MontgomeryQIMR Berghofer Medical Research Institute, Brisbane, 4006, Australia.
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, 4006, Australia.ORCID http://orcid.org/0000-0003-1382-380X
Morris A SwertzDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.
Erkki VartiainenNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Katja BorodulinNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Satu MännistöNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Anna MurrayGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Murielle BochudInstitute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.
Sébastien JacquemontCentre de recherche, Centre Hospitalier Universitaire Sainte Justine, Montréal, Canada, H3T 1C5.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.ORCID http://orcid.org/0000-0001-9435-9441
Thomas F HansenResearch Institute of Biological Psychiatry, Mental Health Center Sct. Hans, Roskilde, 4000, Denmark.ORCID http://orcid.org/0000-0001-6703-7762
Albertine J OldehinkelDepartment of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London, SE1 7EH, UK.ORCID http://orcid.org/0000-0002-2167-7470
Michael A ProvinceDepartment of Genetics, Washington University School of Medicine, St. Louis, 63108, USA.
Panos DeloukasWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.ORCID http://orcid.org/0000-0001-9251-070X
Jaspal S KoonerDepartment of Cardiology, Ealing Hospital NHS Trust, Uxbridge Road, Southall, Middlesex, UB1 3EU, UK.
Rachel M FreathyGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.ORCID http://orcid.org/0000-0003-4152-2238
Craig PennellSchool of Women's and Infants' Health, The University of Western Australia, Perth, 6009, Australia.
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, 2300, Denmark.ORCID http://orcid.org/0000-0003-1478-649X
David P StrachanPopulation Health Research Institute, St. George's, University of London, London, SW17 0RE, UK.ORCID http://orcid.org/0000-0001-7854-1366
Guillaume LettreMontreal Heart Institute, Université de Montréal, Montreal, QC, Canada, H1T 1C8.
Joel HirschhornBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Daniele CusiDepartment of Health Sciences, University of Milano, Milano, 20090, Italy.
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, 93053, Germany.
Caroline HaywardMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.ORCID http://orcid.org/0000-0002-9405-9550
Katrin MännikEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Jacques S BeckmannSwiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Dale R NyholtQIMR Berghofer Medical Research Institute, Brisbane, 4006, Australia.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Johan G ErikssonDepartment of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, 00014, Finland.
Michael N WeedonGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Veikko SalomaaNational Institute for Health and Welfare, Helsinki, 00271, Finland.
Lude FrankeDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands.ORCID http://orcid.org/0000-0002-5159-8802
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.
Timothy M FraylingGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK.
Zoltán KutalikInstitute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland. zoltan.kutalik@unil.ch.ORCID http://orcid.org/0000-0001-8285-7523
Funding
Long Life Family Study: Data Management and Coordinating CenterU01AG023746 · NIA · WASHINGTON UNIVERSITY · PI PROVINCE, MICHAEL A. · 2004 to 2018
$29.2MThe Long Life Family StudyU01AG023755 · NIA · BOSTON MEDICAL CENTER · PI PERLS, THOMAS T · 2004 to 2018
$13.2MPlasma beta-amyloid in long lived families: genetics and risk of ADU01AG023749 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI COSENTINO, STEPHANIE ANN, LEE, JOSEPH HYUNGWOO · 2004 to 2018
$13.0MProbing The Dark Matter of the Genome in the NHLBI Family Heart StudyR01HL117078 · NHLBI · WASHINGTON UNIVERSITY · PI PROVINCE, MICHAEL A. · 2013 to 2016
$3.0MTransforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9MEuropean Research Council 323195Medical Research Council G0902313Medical Research Council G1001799Medical Research Council MC_PC_U127561128Medical Research Council MR/N01104X/1Medical Research Council MR/N01104X/2Medical Research Council MR/N011317/1NHLBI NIH HHS R01 HL117078NIA NIH HHS U01 AG023746NIA NIH HHS U01 AG023749NIA NIH HHS U01 AG023755NIH HHS S10 OD018522Wellcome Trust
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
Indexed as
AnthropometryBody HeightBody Mass IndexBody SizeBody WeightChromosomes, Human, Pair 1Chromosomes, Human, Pair 11Chromosomes, Human, Pair 16Chromosomes, Human, Pair 18Chromosomes, Human, Pair 22Chromosomes, Human, Pair 3Chromosomes, Human, Pair 7DNA Copy Number VariationsGenome-Wide Association StudyGenotypeHumans
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