Summary statistics are available for download from the GWAS Catalog.
Publication
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, et al.
Nature Communications. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3.
PMID: 39271666
Phenotypes
- Stroke (all)
- Subcortical hemorrhagic stroke
Experiment summary
This exome-wide association study in 2619 cases and 26602 controls of South Asian ancestry identified a missense variant in NOTCH3 (p.Arg1231Cys) that is highly enriched in South Asians and significantly associated with stroke, including strong effects for subcortical hemorrhagic stroke; results were supported by follow-up analyses across additional cohorts.
Dataset ID
Rodriguez-Flores2024_Stroke_SA