Association between ischemic stroke, hemorrhagic stroke, dementia, and rs201118034 among general Taiwanese population

INTRODUCTION: We investigated the association between the NOTCH3 rs201118034 variant and the risk of ischemic stroke, hemorrhagic stroke, and dementia within a Taiwanese population. METHODS: Data from 114,233 individuals enrolled in the Taiwan Biobank were analyzed, integrating clinical diagnoses from the National Health Insurance Research Database and genetic information. Participants were aged 30–70 years and had no history of cancer. Diagnoses were categorized using the International Classification of Diseases, Ninth and Tenth Revisions (ICD-9/ICD-10) codes. RESULTS: The rs201118034 AG+AA genotype significantly increased the risk of ischemic stroke (odds ratio [OR]: 1.50, 95% confidence interval [CI]: 1.21–1.85, p < 0.001) and hemorrhagic stroke (OR: 2.21, 95% CI: 1.47–3.32, p < 0.001), with no significant link to dementia (p = 0.326). These results imply the role of the rs201118034 variant in elevating stroke risks while its impact on dementia is negligible. DISCUSSION: This study highlights the influence of genetic and cardiovascular factors in cerebrovascular diseases and supports the benefit of single nucleotide polymorphism (SNP) -based risk stratification. Targeted prevention strategies may be developed for individuals with this genotype. Highlights: The study utilized data from over 114,000 individuals in the Taiwan Biobank, integrating clinical diagnoses and genetic information for robust statistical analysis. The rs201118034 AG+AA genotype in the NOTCH3 gene significantly increased the risk of ischemic stroke and hemorrhagic stroke. This variant shows no significant association with dementia, emphasizing the distinct pathways involved in cerebrovascular diseases and cognitive decline.