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Cited by 288Genetic Associations and EpidemiologyNutrition, Genetics, and DiseaseGenetic Mapping and Diversity in Plants and Animals

Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases

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Franzén, Oscar, Ermel, Raili, Cohain, Ariella, Akers, Nicholas K., Di Narzo, Antonio, Talukdar, Husain A., Foroughi-Asl, Hassan, Giambartolomei, Claudia +15 more·2016·Science
DOI 10.1126/science.aad6970PMC PMC5534139
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Abstract

Genetic variation and coronary artery disease: Most genetic variants lie outside protein-coding genes, but their effects, especially in human health, are not well understood. Franzén et al. examined gene expression in tissues affected by coronary artery disease (CAD). They found that individuals with loci that have been associated with CAD in genome-wide analyses had different patterns of tissue-specific gene expression than individuals without these genetic variants. Similarly, tissues not associated with CAD did not have CAD-like expression patterns. Thus, tissue-specific data can be used to dissect the genetic effects that predispose individuals to CAD. Science , this issue p. 827

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Authors
Franzén, O., Ermel, R., Cohain, A., Akers, N. K., Di Narzo, A., Talukdar, H. A., Foroughi-Asl, H., Giambartolomei, C., Fullard, J. F., Sukhavasi, K., Köks, S., Gan, L.-M., Giannarelli, C., Kovacic, J. C., Betsholtz, C., Losic, B., Michoel, T., Hao, K., Roussos, P., Skogsberg, J., Ruusalepp, A., Schadt, E. E., & Björkegren, J. L. M.
Affiliations
  • Clinical Gene Networks (Sweden) (SE)
  • Tartu University Hospital (EE)
  • Icahn School of Medicine at Mount Sinai (US)
  • Department 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.
  • Karolinska Institutet (SE)
  • Division of Vascular Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Scheeles Väg 2, 171 77 Stockholm, Sweden.
  • University of Tartu (EE)
  • Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia.
  • AstraZeneca (Sweden) (SE)
  • Uppsala University (SE)
  • Roslin Institute (GB)
  • James J. Peters VA Medical Center (US)
Corresponding author
  • Franzén, Oscar
  • Ermel, Raili
  • Cohain, Ariella
  • Björkegren, Johan L. M.
ORCID
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
2016-08-19
Volume
353
Issue
6301
Pages
827-830
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
DOI
10.1126/science.aad6970
PMC
PMC5534139
OpenAlex
W2508591721
Cited by
288
References
91
Citations by year
2026: 9 · 2025: 26 · 2024: 21 · 2023: 31 · 2022: 32 · 2021: 32 · 2020: 29 · 2019: 34 · 2018: 38 · 2017: 32 · 2016: 3
FWCI
28.81
Type
journal article
Language
en
Open access
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
Funders
  • University of Tartu
  • Estonian Research Council (8853)
  • Astra-Zeneca Translational Science Centre-Karolinska Institutet
  • Torsten and Ragnar Söderberg Foundation
  • Knut and Alice Wallenberg Foundation
  • American Heart Association (A14SFRN20840000)
  • National Institutes of Health
  • NIH NHLBI (R01HL125863, R01HL71207, R01AG050986, K23HL111339, K08HL111330)
  • Veterans Affairs (BX002395)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords
cardiometabolic disease, genetic susceptibility loci, cis-regulation, trans-regulation, gene expression regulation, coronary artery disease, vascular tissue, metabolic tissues, tissue-specific gene regulation, abdominal fat, serum lipids, LDL cholesterol, PCSK9, StarNet
MeSH terms
Proprotein Convertase 9, Alzheimer Disease, Coronary Artery Disease, Female, Gene Expression Regulation, Humans, Cholesterol, LDL, Liver, Male, Organ Specificity, Risk, Serine Endopeptidases, Muscle, Skeletal, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Proprotein Convertases, Abdominal Fat, Gene Regulatory Networks, Genome-Wide Association Study

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