ArticleNature communications2024
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Potential contributors to variable penetrance of NOTCH3 p.Arg1231Cys Variant.Neurogenetics · 2026Article
- Impact of population-specific pharmacogenomic variants on drug dosing in ICU patients.The pharmacogenomics journal · 2026Article
- Cross-species studies implicate the melanocortin 3 receptor more strongly in the control of pubertal development than energy balance.Molecular metabolism · 2026Article
- Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.Diabetologia · 2025Article
- Macrophage WDFY3, a protector against autoimmunity.bioRxiv : the preprint server for biology · 2024Article
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49 authors.
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Abstract
The genetic factors of stroke in South Asians are largely unexplored. Exome-wide sequencing and association analysis (ExWAS) in 75 K Pakistanis identified NM_000435.3(NOTCH3):c.3691 C > T, encoding the missense amino acid substitution p.Arg1231Cys, enriched in South Asians (alternate allele frequency = 0.58% compared to 0.019% in Western Europeans), and associated with subcortical hemorrhagic stroke [odds ratio (OR) = 3.39, 95% confidence interval (CI) = [2.26, 5.10], p = 3.87 × 10
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