Article
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Nature communications - 13 Sept 2024
Rodriguez-Flores Juan Lorenzo, Khalid Shareef, Parikshak Neelroop, Rasheed Asif, Ye Bin, Kapoor Manav, Backman Joshua, Sepehrband Farshid, Gioia Silvio Alessandro Di, Gelfman Sahar, De Tanima, Banerjee Nilanjana, Sharma Deepika, Martinez Hector, Castaneda Sofia, D'Ambrosio David, Zhang Xingmin A, Xun Pengcheng, Tsai Ellen, Tsai I-Chun, Khan Maleeha Zaman, Jahanzaib Muhammad, Mian Muhammad Rehan, Liaqat Muhammad Bilal, Mahmood Khalid, Salam Tanvir Us, Hussain Muhammad, Iqbal Javed, Aslam Faizan, Cantor Michael N, Tzoneva Gannie, Overton John, Marchini Jonathan, Reid Jeffrey G, Baras Aris, Verweij Niek, Lotta Luca A, Coppola Giovanni, Karalis Katia, Economides Aris, Fazio Sergio, Liedtke Wolfgang, Danesh John, Kamal Ayeesha, Frossard Philippe, Coleman Thomas, Shuldiner Alan R, Saleheen Danish
Abstract excerpt
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...
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