Identification of Novel Genetic Risk Variants Associated With Early-Onset Ischemic Stroke in Taiwan - PubMed
3 hours ago
- #Taiwan
- #stroke
- #genetics
- A genome-wide association study (GWAS) in Taiwan identified a novel genetic locus on chromosome 19p13.12 significantly associated with early-onset ischemic stroke (ages 18-54), with the lead SNP rs541118668 in CYP4F3.
- Other significant loci were found in all ischemic stroke cases, including rs12509595 near FGF5, and the novel locus was linked to the small vessel occlusion subtype and enriched in lipid metabolism and inflammatory pathways.
- Rare pathogenic variants were discovered in early-onset stroke probands, with 15.6% carrying likely pathogenic mutations in genes like NOTCH3 and HTRA1, particularly in small vessel occlusion and cerebral venous infarction subtypes.
- The study used the Taiwan Precision Medicine Initiative database and included phenome-wide association studies and pathway enrichment analyses, highlighting a distinct genetic architecture for early-onset stroke in East Asians.