Related Experiment Video
Updated: May 10, 2026
09:38
Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
Published on: November 14, 2017
Gene polymorphisms in association with self-reported stroke in US adults
Amy Z Fan1, Jing Fang, Ajay Yesupriya
1National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA.
The Application of Clinical Genetics
|June 19, 2013
Summary
Gene variants in ACE, MTHFR, and NOS3 are associated with stroke prevalence in US adults. Specific polymorphisms in these genes may increase or decrease the risk of self-reported stroke.
Area of Science:
- Genetics and epidemiology
- Cardiovascular disease research
- Population health studies
Background:
- Epidemiologic studies indicate that certain gene variants are linked to an increased risk of stroke.
- Population-based studies are crucial for validating these genetic associations.
Purpose of the Study:
- To identify gene polymorphisms associated with the prevalence of self-reported stroke in a representative US population sample.
- To investigate the relationship between specific genetic variants and stroke history.
Main Methods:
- Utilized DNA samples from US adults in the Third National Health and Nutrition Examination (NHANES III) survey.
- Examined nine candidate gene variants in ACE, F2, F5, ITGA2, MTHFR, and NOS3.
- Employed multivariate regression and Cox proportional hazards models to analyze associations with self-reported stroke.
Main Results:
- The ACE rs4646994 variant (I/I and I/D genotypes) showed increased stroke prevalence compared to the D/D genotype.
- The MTHFR rs1801131 heterozygous genotype (A/C) was linked to a lower prevalence of stroke.
- The NOS3 rs2070744 variant (C/T and C/C genotypes) was associated with a higher prevalence of stroke compared to the T/T genotype.
Conclusions:
- Findings suggest a significant association between self-reported stroke prevalence and polymorphisms in the ACE, MTHFR, and NOS3 genes.
- These results contribute to understanding the genetic underpinnings of stroke in a population-based context.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
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...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...
01:27Pharmacogenetics of Drug Metabolism: Overview
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...