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  • Heteroplasmic mitochondrial... Heteroplasmic mitochondrial DNA variants in cardiovascular diseases
    Calabrese, Claudia; Pyle, Angela; Griffin, Helen ... PLoS genetics, 04/2022, Volume: 18, Issue: 4
    Journal Article
    Peer reviewed
    Open access

    Mitochondria are implicated in the pathogenesis of cardiovascular diseases (CVDs) but the reasons for this are not well understood. Maternally-inherited population variants of mitochondrial DNA ...
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  • Dysfunctional nitric oxide ... Dysfunctional nitric oxide signalling increases risk of myocardial infarction
    Erdmann, Jeanette; Stark, Klaus; Esslinger, Ulrike B ... Nature (London), 12/2013, Volume: 504, Issue: 7480
    Journal Article
    Peer reviewed

    Myocardial infarction, a leading cause of death in the Western world, usually occurs when the fibrous cap overlying an atherosclerotic plaque in a coronary artery ruptures. The resulting exposure of ...
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  • Polygenic risk score adds t... Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting
    Samani, Nilesh J; Beeston, Emma; Greengrass, Chris ... European heart journal, 06/2024
    Journal Article
    Peer reviewed
    Open access

    Abstract Background and Aims A cardiovascular disease polygenic risk score (CVD-PRS) can stratify individuals into different categories of cardiovascular risk, but whether the addition of a CVD-PRS ...
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  • Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes
    Morris, Gavin E; Braund, Peter S; Moore, Jasbir S ... Arteriosclerosis, thrombosis, and vascular biology, 06/2017, Volume: 37, Issue: 6
    Journal Article
    Peer reviewed
    Open access

    Genome-wide association studies have linked variants at chromosome 10q23 with increased coronary artery disease risk. The disease-associated variants fall in , which encodes lysosomal acid lipase ...
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  • Common variants near TERC a... Common variants near TERC are associated with mean telomere length
    Samani, Nilesh J; Codd, Veryan; Mangino, Massimo ... Nature genetics, 03/2010, Volume: 42, Issue: 3
    Journal Article
    Peer reviewed
    Open access

    We conducted genome-wide association analyses of mean leukocyte telomere length in 2,917 individuals, with follow-up replication in 9,492 individuals. We identified an association with telomere ...
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  • Runs of Homozygosity: Assoc... Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages
    Christofidou, Paraskevi; Nelson, Christopher P.; Nikpay, Majid ... American journal of human genetics, 08/2015, Volume: 97, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    Runs of homozygosity (ROHs) are recognized signature of recessive inheritance. Contributions of ROHs to the genetic architecture of coronary artery disease and regulation of gene expression in cells ...
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  • The 9p21 Locus Does Not Aff... The 9p21 Locus Does Not Affect Risk of Coronary Artery Disease Through Induction of Type 1 Interferons
    Erridge, Clett, PhD; Gracey, Jay, BA, RN; Braund, Peter S., MSc ... Journal of the American College of Cardiology, 10/2013, Volume: 62, Issue: 15
    Journal Article
    Peer reviewed
    Open access

    Objectives The study objective was to determine whether the coronary artery disease (CAD)-associated genotype at chromosome 9p21 modulates basal or induced expression of type I interferons (IFN-I). ...
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  • The relationship between plasma angiopoietin-like protein 4 levels, angiopoietin-like protein 4 genotype, and coronary heart disease risk
    Smart-Halajko, Melissa C; Robciuc, Marius R; Cooper, Jackie A ... Arteriosclerosis, thrombosis, and vascular biology, 2010-November, Volume: 30, Issue: 11
    Journal Article
    Peer reviewed

    To investigate the relationship between angiopoietin-like protein 4 (Angptl4) levels, coronary heart disease (CHD) biomarkers, and ANGPTL4 variants. Plasma Angptl4 was quantified in 666 subjects of ...
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  • Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation
    Manunta, Paolo; Lavery, Gail; Lanzani, Chiara ... Hypertension (Dallas, Tex. 1979), 2008-August, Volume: 52, Issue: 2
    Journal Article
    Peer reviewed

    The kidney plays an important role in salt and blood pressure (BP) homeostasis. In previous studies, variants in the genes for alpha-adducin (ADD1), WNK1, and NEDD4L, which all regulate renal sodium ...
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  • Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm
    Bown, Matthew J; Braund, Peter S; Thompson, John ... Circulation. Cardiovascular genetics, 2008-October, Volume: 1, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Recent genome-wide studies have shown a significant association of a locus on chromosome 9p21.3 and coronary artery disease. We performed a case-control study to investigate the association between ...
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