Common NOTCH3 Variants and Cerebral Small-Vessel Disease | Zendy

Loes C.A. RuttenJacobs | Zendy; Matthew Traylor | Zendy; Poneh AdibSamii | Zendy; Vincent Thijs | Zendy; Cathie Sudlow | Zendy; Peter M. Rothwell | Zendy; Giorgio B. Boncoraglio | Zendy; Martin Dichgans | Zendy; Steve Bevan | Zendy; James F. Meschia | Zendy; Christopher Levi | Zendy; Natalia S. Rost | Zendy; Jonathan Rosand | Zendy; Ahamad Hassan | Zendy; Hugh S. Markus | Zendy

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Common NOTCH3 Variants and Cerebral Small-Vessel Disease

Author(s) -

Loes C.A. RuttenJacobs,

Matthew Traylor,

Poneh AdibSamii,

Vincent Thijs,

Cathie Sudlow,

Peter M. Rothwell,

Giorgio B. Boncoraglio,

Martin Dichgans,

Steve Bevan,

James F. Meschia,

Christopher Levi,

Natalia S. Rost,

Jonathan Rosand,

Ahamad Hassan,

Hugh S. Markus

Publication year - 2015

Publication title -

stroke

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.397

H-Index - 319

eISSN - 1524-4628

pISSN - 0039-2499

DOI - 10.1161/strokeaha.114.008540

Subject(s) - medicine , hyperintensity , single nucleotide polymorphism , lacunar stroke , cadasil , leukoencephalopathy , stroke (engine) , genome wide association study , pathology , genetic association , allele , disease , genetics , ischemic stroke , magnetic resonance imaging , gene , biology , genotype , ischemia , radiology , engineering , mechanical engineering

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.

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