ArticleScience (New York, N.Y.)2016
Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases.
Open access · greenAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 191 papers, 14 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
191citing papers in PubMed, 14 pooled it
36.3field-weighted citation impact, top 1% of its field
What it found
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Who cites it
191 citing papers in PubMed, 14 syntheses or guidelines pooled it, 311 citations in OpenAlex.
- Pooled it
- Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits.Nature genetics · 2025Pooled it
- Liver eQTL meta-analysis illuminates potential molecular mechanisms of cardiometabolic traits.American journal of human genetics · 2024Pooled it
- Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification.Nature genetics · 2023Pooled it
- Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.Communications biology · 2023Pooled it
- FHL5 Controls Vascular Disease-Associated Gene Programs in Smooth Muscle Cells.Circulation research · 2023Pooled it
- Plasma cortisol-linked gene networks in hepatic and adipose tissues implicate corticosteroid-binding globulin in modulating tissue glucocorticoid action and cardiovascular risk.Frontiers in endocrinology · 2023Pooled it
- Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.Nature genetics · 2022Pooled it
- Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.European heart journal · 2021Pooled it
- GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.Nature communications · 2018Pooled it
- Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.Nature genetics · 2018Pooled it
- New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals.Circulation. Cardiovascular genetics · 2017Pooled it
- Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.Nature genetics · 2017Pooled it
- Genetic regulation of gene expression in the epileptic human hippocampus.Human molecular genetics · 2017Pooled it
- Gene regulatory network analysis identifies auranofin as an anti-atherosclerotic drug.Nature communications · 2026Article
- Reduced LACTB expression in myeloid cells is associated with elevated succinylcarnitine and reduced Alzheimer's disease risk.Research square · 2026Article
- Multi-omics and artificial intelligence for precision drug discovery and potential clinical applications.Signal transduction and targeted therapy · 2026Review
- FOXC1 and Smooth Muscle Cell Plasticity in Human Atherosclerosis.JACC. Basic to translational science · 2026Article
- Female-Biased VSMC GRNs Predict MYH9 as Regulator of Fibrous Plaque Phenotype.Circulation research · 2026Article
- Cell type-specific epigenetic regulatory circuitry of coronary artery disease loci.Nature communications · 2026Article
131 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 2 institutions in 2 countries.
Oscar FranzénDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA. Clinical Gene Networks AB, Jungfrugatan 10, 114 44 Stockholm, Sweden.
Raili ErmelDepartment of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. Department of Cardiac Surgery, Tartu University Hospital, 1a Ludwig Puusepa Street, 50406 Tartu, Estonia.
Ariella CohainDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Nicholas K AkersDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Antonio Di NarzoDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Husain A TalukdarDivision of Vascular Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Scheeles Väg 2, 171 77 Stockholm, Sweden.
Hassan Foroughi-AslDivision of Vascular Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Scheeles Väg 2, 171 77 Stockholm, Sweden.
Claudia GiambartolomeiDivision of Psychiatric Genomics, Department of Psychiatry and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
John F FullardDivision of Psychiatric Genomics, Department of Psychiatry and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Katyayani SukhavasiDepartment of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia.
Sulev KöksDepartment of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia.
Li-Ming GanCardiovascular and Metabolic Diseases, Innovative Medicines and Early Development Biotech Unit, AstraZeneca, Pepparedsleden 1, Mölndal, 431 83, Sweden.
Chiara GiannarelliDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA. Cardiovascular Research Center Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Jason C KovacicCardiovascular Research Center Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Christer BetsholtzAstraZeneca-Karolinska Integrated CardioMetabolic Centre (ICMC), Karolinska Institutet, Novum, Blickagången 6, 141 57 Huddinge, Sweden. Department of Immunology, Genetics and Pathology Dag Hammarskjölds Väg 20, 751 85 Uppsala, Sweden.
Bojan LosicDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Tom MichoelDivision of Genetics and Genomics, The Roslin Institute, University of Edinburgh, Old College, South Bridge, Edinburgh EH8 9YL, UK.
Ke HaoDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Panos RoussosDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA. Division of Psychiatric Genomics, Department of Psychiatry and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA. Department of Psychiatry, J. J. Peters VA Medical Center, Mental Illness Research Education and Clinical Center (MIRECC), 130 West Kingsbridge Road, Bronx, NY 10468, USA.
Josefin SkogsbergDivision of Vascular Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Scheeles Väg 2, 171 77 Stockholm, Sweden.
Arno RuusaleppClinical Gene Networks AB, Jungfrugatan 10, 114 44 Stockholm, Sweden. Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. Department of Cardiac Surgery, Tartu University Hospital, 1a Ludwig Puusepa Street, 50406 Tartu, Estonia.
Eric E SchadtDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA.
Johan L M BjörkegrenDepartment of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York , NY 10029, USA. Clinical Gene Networks AB, Jungfrugatan 10, 114 44 Stockholm, Sweden. Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. Division of Vascular Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Scheeles Väg 2, 171 77 Stockholm, Sweden. johan.bjorkegren@mssm.edu.
University of Tartu · EEAstraZeneca (Sweden) · SE
Funding
Higher Order Chromatin and Genetic Risk for Alzheimer's DiseaseR01AG050986 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ROUSSOS, PANAGIOTIS · 2015 to 2025
$11.2MMolecular studies of Noonan syndrome and related disordersR01HL071207 · NHLBI · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GELB, BRUCE D · 2002 to 2016
$5.9MToward Diagnostics and Therapies of Molecular Subcategories of CADR01HL125863 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BJORKEGREN, JOHAN M · 2015 to 2018
$3.2MTransforming 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
$1.9MRole of alternatively spliced Tissue Factor in atherosclerosisK23HL111339 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GIANNARELLI, CHIARA · 2013 to 2017
$782kCellular and molecular mechanisms of endothelial repair and atherosclerosisK08HL111330 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVACIC, JASON CIRIL · 2012 to 2016
$647kDissecting Cis Regulation of Gene Expression in SchizophreniaI01BX002395 · VA · JAMES J PETERS VA MEDICAL CENTER · PI ROUSSOS, PANAGIOTIS · 2014 to 2022
–Biotechnology and Biological Sciences Research Council BBS/E/D/20211551BLRD VA I01 BX002395NHLBI NIH HHS K08 HL111330NHLBI NIH HHS K08HL111330NHLBI NIH HHS K23 HL111339NHLBI NIH HHS K23HL111339NHLBI NIH HHS R01 HL071207NHLBI NIH HHS R01 HL125863NHLBI NIH HHS R01HL125863NIA NIH HHS R01 AG050986NIA NIH HHS R01AG050986NIH HHS S10 OD018522
Abstract
Genome-wide association studies (GWAS) have identified hundreds of cardiometabolic disease (CMD) risk loci. However, they contribute little to genetic variance, and most downstream gene-regulatory mechanisms are unknown. We genotyped and RNA-sequenced vascular and metabolic tissues from 600 coronary artery disease patients in the Stockholm-Tartu Atherosclerosis Reverse Networks Engineering Task study (STARNET). Gene expression traits associated with CMD risk single-nucleotide polymorphism (SNPs) identified by GWAS were more extensively found in STARNET than in tissue- and disease-unspecific gene-tissue expression studies, indicating sharing of downstream cis-/trans-gene regulation across tissues and CMDs. In contrast, the regulatory effects of other GWAS risk SNPs were tissue-specific; abdominal fat emerged as an important gene-regulatory site for blood lipids, such as for the low-density lipoprotein cholesterol and coronary artery disease risk gene PCSK9 STARNET provides insights into gene-regulatory mechanisms for CMD risk loci, facilitating their translation into opportunities for diagnosis, therapy, and prevention.
Indexed as
Gene Expression RegulationAbdominal FatAlzheimer DiseaseCholesterol, LDLCoronary Artery DiseaseFemaleGene Regulatory NetworksGenome-Wide Association StudyHumansLiverMaleMuscle, SkeletalOrgan SpecificityPolymorphism, Single NucleotideProprotein Convertase 9Proprotein ConvertasesCholesterol, LDLPCSK9 protein, humanProprotein Convertase 9Proprotein ConvertasesSerine Endopeptidases
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