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Updated: Jun 4, 2026
08:27
Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
[Genome-wide association study for ischemic stroke based on the Hisayama study]
Jun Hata1, Michiaki Kubo, Yutaka Kiyohara
1Department of Environmental Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. junhata@envmed.med.kyushu-u.ac.jp
Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene
|March 2, 2011
Summary
This study identified three novel genes, PRKCH, AGTRL1, and ARHGEF10, associated with ischemic stroke susceptibility. Genetic variations in these genes were linked to increased risk in a Japanese population, offering new insights into stroke pathogenesis.
Area of Science:
- Genetics
- Neurology
- Cardiovascular Disease Research
Context:
- Ischemic stroke is a leading cause of death and disability worldwide.
- Genetic factors contribute to ischemic stroke susceptibility, but few genes have been identified.
- Previous studies suggest a genetic component to ischemic stroke, necessitating further research.
Purpose:
- To identify novel genes associated with ischemic stroke susceptibility using a genome-wide association study.
- To investigate the functional impact of identified genetic variations on ischemic stroke risk.
- To validate the association of candidate genes with ischemic stroke in a long-term cohort study.
Summary:
- A genome-wide association study identified three novel candidate genes for ischemic stroke: PRKCH, AGTRL1, and ARHGEF10.
- Functional analyses revealed that specific single nucleotide polymorphisms (SNPs) in PRKCH, AGTRL1, and ARHGEF10 affect gene function and transcriptional activity.
- A 14-year follow-up study confirmed the significant association of these SNPs with the development of ischemic stroke in a Japanese population.
Impact:
- Identifies novel genetic targets for understanding ischemic stroke pathogenesis.
- Provides potential biomarkers for assessing individual risk of ischemic stroke.
- Findings may inform future therapeutic strategies aimed at preventing or treating ischemic stroke.
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