In the coming years, genomics will impact clinical practice in multiple ways. However, one of the most important applications will be in the determination of the best treatments in personalized medicine. This is, in fact, one of the fields in which genetic variants have already been most successful and useful to clinicians. Here, we briefly review the current state of the art on pharmacogenomics and its applications to modern cardiovascular medicine.
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Mineralocorticoid axis activity and cardiac remodeling in patients with ACTH dependent Cushing's syndrome.
Endocr Connect
January 2025
P Kamenický, Centre de Référence des Maladies Rares de l'Hypophyse, Le Kremlin-Bicêtre, 94275, France.
Background: Arterial hypertension and left ventricular hypertrophy and remodeling are independent cardiovascular risk factors in patients with Cushing's syndrome. Changes in the renin-angiotensin system and in the mineralocorticoid axis activity could be involved as potential mechanisms in their pathogenesis, in addition to cortisol excess.
Methods: In this ancillary study of our previous study prospectively investigating patients with ACTH-dependent Cushing's syndrome by cardiac magnetic resonance imaging (NCT02202902), 11 patients without any interfering medication were cross-sectionally compared to 20 control subjects matched for age, sex and body mass index.
GWAS of CRP response to statins further supports the role of APOE in Statin Response: a GIST consortium study.
Pharmacol Res
January 2025
Centre of Clinical Pharmacology & Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK; NIHR Barts Biomedical Research Centre, Queen Mary University of London, London, UK. Electronic address:
Article Synopsis
- Statins are key medications used to prevent cardiovascular disease by not only lowering lipids but also reducing inflammation, measured by C-reactive protein (CRP).
- Two significant genetic loci linked to how individuals respond to statin treatment in terms of changes in CRP levels were identified: APOE and HNF1A, both of which are associated with various health conditions like coronary artery disease and diabetes.
- Further analysis suggests that the APOE-E4 variant may influence the effectiveness of statins, hinting at its potential role in personalized healthcare for those with cardiovascular and related conditions.
Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of , and .
Int J Mol Sci
December 2024
Clinical Pharmacology Department, Hospital Universitario de La Princesa, Instituto de Investigación Sanitaria La Princesa (IIS-Princesa), 28006 Madrid, Spain.
Statins are the primary drugs used to prevent cardiovascular disease by inhibiting the HMG-CoA reductase, an enzyme crucial for the synthesis of LDL cholesterol in the liver. A significant number of patients experience adverse drug reactions (ADRs), particularly musculoskeletal problems, which can affect adherence to treatment. Recent clinical guidelines, such as those from the Clinical Pharmacogenetics Implementation Consortium (CPIC) in 2022, recommend adjusting rosuvastatin doses based on genetic variations in the and genes to minimize ADRs and improve treatment efficacy.
View Article and Find Full Text PDFHypoparathyroidism: Similarities and differences between Western and Eastern countries.
Osteoporos Int
January 2025
Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Backgroud: Hypoparathyroidism (hypoPT) is characterized by acute and chronic complications due to insufficient parathyroid hormone (PTH) production or action. Several management guidelines have been developed, but mostly based on evidence from Western countries. Data from Eastern countries have not been systematically compared with those from Western countries.
View Article and Find Full Text PDFPotential Opportunities for Pharmacogenetic-Based Therapeutic Exploitation of Xanthine Dehydrogenase in Cardiovascular Disease.
Antioxidants (Basel)
November 2024
Barts & The London Faculty of Medicine & Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
The majority of naturally occurring mutations of the human gene , are associated with reduced or completely absent xanthine oxidoreductase (XOR) activity, leading to a disease known as classical xanthinuria, which is due to the accumulation and excretion of xanthine in urine. Three types of classical xanthinuria have been identified: type I, characterised by XOR deficiency, type II, caused by XOR and aldehyde oxidase (AO) deficiency, and type III due to XOR, AO, and sulphite oxidase (SO) deficiency. Type I and II are considered rare autosomal recessive disorders, a condition where two copies of the mutated gene must be present to develop the disease or trait.
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