ArticleNature genetics2016
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 48 papers, 9 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 9 pooled it
12.9field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
48 citing papers in PubMed, 9 syntheses or guidelines pooled it, 97 citations in OpenAlex.
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- Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.Genome biology · 2022Pooled it
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- Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.Nature communications · 2021Pooled it
- Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.Nature genetics · 2020Pooled it
- GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.Nature communications · 2019Pooled it
- Genome-wide meta-analysis reveals shared newAnnals of the rheumatic diseases · 2019Pooled it
- Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.Nature genetics · 2018Pooled it
- Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.Circulation research · 2018Pooled it
- Revealing genetic foundations underlying cardiometabolic traits: integrating twin and GWAS data in Asian populations.International journal of obesity (2005) · 2026Article
- Causal influence of muscle weakness on cardiometabolic diseases and osteoporosis.Scientific reports · 2023Article
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
- Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits.PLoS genetics · 2022Article
- Admixture mapping of anthropometric traits in the Black Women's Health Study: evidence of a shared African ancestry component with birth weight and type 2 diabetes.Journal of human genetics · 2022Article
- Causal associations of circulating adiponectin with cardiometabolic diseases and osteoporotic fracture.Scientific reports · 2022Article
- Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.Human molecular genetics · 2022Article
- Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.American journal of human genetics · 2021Article
- RNA sequencing of blood in coronary artery disease: involvement of regulatory T cell imbalance.BMC medical genomics · 2021Article
- Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank.Communications biology · 2021Article
- Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.American journal of human genetics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
68 authors at 20 institutions in 9 countries.
Valentina IotchkovaEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
Jie HuangHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
John A MorrisCentre for Clinical Epidemiology, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montréal, Québec, Canada.
Deepti JainDepartment of Biostatistics, University of Washington, Seattle, Washington, USA.
Caterina BarbieriHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Klaudia WalterHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Josine L MinMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Lu ChenHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
William AstleDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Massimilian CoccaMedical Genetics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Patrick DeelenUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, Netherlands.
Heather EldingHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Aliki-Eleni FarmakiDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece.
Christopher S FranklinHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Mattias FranbergCardiovascular Medicine Unit, Dep. Medicine, Karolinska Institute, Stockholm, Sweden.
Tom R GauntMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Albert HofmanDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Tao JiangDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Marcus E KleberVth Department of Medicine, Medical Faculty, Mannheim, Germany.
Genevieve LachanceDepartment of Twin Research & Genetic Epidemiology, King's College London, Londo, UK.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.
Giovanni MalerbaBiology and Genetics, Department Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Angela MatchanHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Daniel MeadHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Yasin MemariHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Ioanna NtallaWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Kalliope PanoutsopoulouHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Raha PazokiDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
John R B PerryDepartment of Twin Research & Genetic Epidemiology, King's College London, Londo, UK.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Maria Sabater-LlealCardiovascular Medicine Unit, Dep. Medicine, Karolinska Institute, Stockholm, Sweden.
Bengt SennbladCardiovascular Medicine Unit, Dep. Medicine, Karolinska Institute, Stockholm, Sweden.
So-Youn ShinHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Lorraine SouthamHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Michela TragliaDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy.
Freerk van DijkUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, Netherlands.
Elisabeth M van LeeuwenDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Gianluigi ZazaRenal Unit, Department of Medicine, University of Verona, Verona, Italy.
Weihua ZhangDepartment of Epidemiology and Biostatistics, Imperial College London, St Mary's campus, London, UK.
UK10K Consortium
Najaf AminDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Adam ButterworthDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
John C ChambersDepartment of Epidemiology and Biostatistics, Imperial College London, St Mary's campus, London, UK.
George DedoussisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece.
Abbas DehghanDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Oscar H FrancoDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Lude FrankeUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.
Mattia FrontiniUniversity of Cambridge, Cambridge, UK.
Giovanni GambaroDivision of Nephrology and Dialysis, Institute of Internal Medicine, Renal Program, Columbus-Gemelli University Hospital, Catholic University, Rome, Italy.
Paolo GaspariniMedical Genetics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Anders HamstenCardiovascular Medicine Unit, Dep. Medicine, Karolinska Institute, Stockholm, Sweden.
Aaron IssacsDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Jaspal S KoonerNational Heart and Lung Institute, Imperial College London, London, UK.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.
Winfried MarzClinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria.
Robert A ScottMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.
Morris A SwertzUniversity of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, Netherlands.
Daniela TonioloDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy.
Andre G UitterlindenDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, Netherlands.
Hugh WatkinsRadcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Eleftheria ZegginiHuman Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Mathew T MauranoInstitute for Systems Genetics, New York University Langone Medical Center, New York, USA.
Nicholas J TimpsonMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Alexander P Reiner *Department of Epidemiology, University of Washington, Seattle, Washington, USA.
Paul L Auer *Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, USA.
Nicole Soranzo *Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Wellcome Sanger Institute · GBErasmus MC · NLUniversity of Cambridge · GBKarolinska Institutet · SEUniversity Medical Center Groningen · NLUniversity of Bristol · GBCentre for Human Genetics · GBHarokopio University of Athens · GRKing's College London · GBSt Mary's Hospital · GBUniversity of Trieste · ITUniversity of Verona · ITUniversity of Washington · USAgostino Gemelli University Polyclinic · ITEuropean Bioinformatics Institute · GBFred Hutch Cancer Center · USHarvard University · USHeidelberg University · DEImperial College London · GBJewish General Hospital · CA
Funding
FHCRC High-Performance Computing ClusterS10OD020069 · OD · FRED HUTCHINSON CANCER RESEARCH CENTER · PI KOOPERBERG, CHARLES L · 2015 to 2015
$600kGenetic Variants Associated with CVD Risk and Hormone Therapy InteractionsR21HL121422 · NHLBI · UNIVERSITY OF WISCONSIN MILWAUKEE · PI AUER, PAUL L. · 2014 to 2015
$262kBritish Heart Foundation SP/04/002Medical Research Council G0601966Medical Research Council G0700931Medical Research Council G0800270Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_U106179471Medical Research Council MC_UU_12013/1-‐9Medical Research Council MC_UU_12015/1Medical Research Council MC_UU_12015/2NHLBI NIH HHS HHSN268201100046CNHLBI NIH HHS R21 HL121422NIA NIH HHS HHSN271201100004CNIH HHS S10 OD020069Wellcome Trust 084723/Z/08/ZWellcome Trust 091310Wellcome Trust 092731Wellcome Trust 202802/Z/16/ZWellcome Trust WT091310Wellcome Trust WT092447/B/10/ZWellcome Trust WT098051WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004C
Abstract
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic variation underlying human traits. Here we apply genotype imputation based on whole-genome sequence data from the UK10K and 1000 Genomes Project into 35,981 study participants of European ancestry, followed by association analysis with 20 quantitative cardiometabolic and hematological traits. We describe 17 new associations, including 6 rare (minor allele frequency (MAF) < 1%) or low-frequency (1% < MAF < 5%) variants with platelet count (PLT), red blood cell indices (MCH and MCV) and HDL cholesterol. Applying fine-mapping analysis to 233 known and new loci associated with the 20 traits, we resolve the associations of 59 loci to credible sets of 20 or fewer variants and describe trait enrichments within regions of predicted regulatory function. These findings improve understanding of the allelic architecture of risk factors for cardiometabolic and hematological diseases and provide additional functional insights with the identification of potentially novel biological targets.
Indexed as
Genetic LociGenome, HumanGenome-Wide Association StudyFemaleGenetic Predisposition to DiseaseGenetic VariationHeart DiseasesHematologic DiseasesHumansMaleQuantitative Trait LociSequence Analysis, DNA
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