Genetic Epidemiology of Ischemic Stroke Risk Factors

Ischaemic stroke arises from the occlusion of cerebral arteries, with risk influenced by both modifiable factors—such as hypertension, smoking, diet and sedentary behaviour—and inherited genetic variation. Family and twin studies estimate that up to half of the variance in stroke susceptibility may reflect heritable components, whereas the remainder stems from environmental exposures. Early candidate-gene investigations targeted pathways involved in coagulation, blood pressure regulation and lipid metabolism, leading to the identification of variants in genes encoding plasminogen activator inhibitor-1 and angiotensin-converting enzyme. More recent genome-wide association studies have surveyed common variants across the entire genome, revealing a polygenic architecture composed of multiple loci with modest individual effects and highlighting the role of haplotypes, single-nucleotide polymorphisms and gene–environment interactions. Integration of large-scale epidemiology with molecular and functional analyses is refining risk-profiling tools, uncovering mechanistic insights and informing personalised prevention strategies worldwide.

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Genetic Epidemiology of Ischemic Stroke Risk Factors publication trend

The graph below shows the total number of articles in genetic epidemiology of ischemic stroke risk factors across all publications each year (not limited to Nature Index journals).

Technical terms

Polymorphism: A common variation in DNA sequence among individuals in a population.

Single-nucleotide polymorphism (SNP): A one-base change at a specific genomic position shared by a significant fraction of the population.

Haplotype: A group of alleles in an organism that are inherited together from a single parent.

Genome-wide association study (GWAS): An analytical approach scanning the entire genome to identify genetic variants linked to a particular disease or trait.

Gene–environment interaction: A scenario in which the effect of a genetic variant on disease risk is modified by environmental or lifestyle factors.

References

1. Association between PAI-1 Polymorphisms and Ischemic Stroke in a South Korean Case-Control Cohort. International Journal of Molecular Sciences (2023).
2. Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism Contributes to Ischemic Stroke Risk: A Meta-Analysis of 50 Case-Control Studies. PLOS ONE (2012).
3. Interactions between ACYP2 genetic polymorphisms and environment factors with susceptibility to ischemic stroke in a Han Chinese Populati. Oncotarget (2017).
4. Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis. PLOS ONE (2011).
5. Genetics of Common Polygenic Ischaemic Stroke: Current Understanding and Future Challenges. Stroke Research and Treatment (2011).