Common NOTCH3 Variants and Cerebral Small-Vessel Disease

Loes Rutten-Jacobs, Matthew Traylor, Poneh Adib-Samii, Vincent Thijs, Cathie Sudlow, Peter M Rothwell, Giorgio Boncoraglio, Martin Dichgans, Stephen Bevan, James Meschia, Christopher Levi, Natalia S Rost, Jonathan Rosand, Ahamad Hassan & Hugh Markus
Background and Purpose—The most common monogenic cause of cerebral small-vessel disease is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by NOTCH3 gene mutations. It has been hypothesized that more common variants in NOTCH3 may also contribute to the risk of sporadic small-vessel disease. Previously, 4 common variants (rs10404382, rs1043994, rs10423702, and rs1043997) were found to be associated with the presence of white matter hyperintensity in hypertensive community-dwelling elderly. Methods—We investigated the association...

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