Related Experiment Video
Updated: May 18, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Stroke genetics: prospects for personalized medicine
1Stroke and Dementia Research Centre, St, Georges University of London, London, UK. hmarkus@sgul.ac.uk
BMC Medicine
|September 29, 2012
Summary
Genetic predisposition to stroke is supported by evidence. While new gene discoveries are transforming understanding of multifactorial stroke, current genetic variants have limited use in individual risk prediction.
Area of Science:
- Genetics
- Epidemiology
- Neurology
Background:
- Epidemiologic studies indicate a genetic component in stroke development.
- Genome-wide association studies (GWAS) are crucial for identifying novel stroke-related genes.
- Different stroke subtypes may possess distinct genetic underpinnings.
Purpose of the Study:
- To review current understanding of genetic predisposition to stroke.
- To explore the impact of recent genetic discoveries on stroke research.
- To discuss the potential of genetics and pharmacogenomics in personalized stroke medicine.
Main Methods:
- Review of epidemiologic evidence.
- Analysis of genome-wide association study (GWAS) findings.
- Exploration of pharmacogenomic data related to stroke treatments.
Main Results:
- Novel stroke genes are being identified through GWAS.
- Current genetic variants explain a small fraction of stroke risk, limiting individual prediction.
- Genetic discoveries may reveal new pathways in stroke pathogenesis.
Conclusions:
- Genetics plays a role in stroke predisposition, with varying architecture across subtypes.
- Future genetic discoveries and whole-genome sequencing may enhance individual stroke risk prediction.
- Pharmacogenomics holds promise for personalized stroke treatment but requires wider clinical adoption.
Related Concept Videos
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:29Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...