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Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release
Mar Matarín1, W Mark Brown, Sonja Scholz
1Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
The Lancet. Neurology
|April 17, 2007
Summary
Researchers analyzed genome-wide data to find common genetic risk factors for ischemic stroke. Preliminary findings did not identify any single genetic locus with a large effect on stroke risk.
Area of Science:
- Genetics
- Neurology
- Cardiovascular Disease
Background:
- Identifying common genetic risk factors for ischemic stroke is challenging.
- Genetic factors play a role in stroke development.
- Previous research has not pinpointed significant common genetic variants.
Purpose of the Study:
- To identify common genetic variants associated with ischemic stroke risk.
- To generate and release publicly accessible genome-wide genotype data.
- To facilitate further research into stroke genetics.
Main Methods:
- Genome-wide high-density single-nucleotide-polymorphism (SNP) genotyping was performed.
- Association analysis was conducted on a cohort of ischemic stroke cases and controls.
- Over 400,000 unique SNPs were analyzed.
Main Results:
- Over 200 million genotypes were generated for 553 participants.
- Genotype and allele association test results are publicly available for most stroke patients.
- No single genetic locus showed a large effect on ischemic stroke risk in preliminary analysis.
Conclusions:
- This study represents the first phase of a genome-wide association analysis for stroke.
- The publicly released dataset is a valuable resource for stroke research.
- Further data mining and augmentation of this dataset are encouraged.
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...
01:15Ischemic Stroke l: Introduction
Ischemic stroke is an acute cerebrovascular condition in which blood flow to a brain region is suddenly interrupted, leading to tissue infarction. Neurons depend on continuous oxygen and glucose supply, so even brief reductions in perfusion cause energy failure, ionic imbalance, and irreversible injury. Ischemic strokes are classified into thrombotic and embolic types based on their underlying mechanisms.Thrombotic MechanismsThrombotic stroke develops when a clot forms within a cerebral artery.