Article
Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes.
Neurobiology of aging - 1 Sept 2013
Van Cauwenberghe Caroline, Bettens Karolien, Engelborghs Sebastiaan, Vandenbulcke Mathieu, Van Dongen Jasper, Vermeulen Steven, Vandenberghe Rik, De Deyn Peter P, Van Broeckhoven Christine, Sleegers Kristel
Abstract excerpt
We previously described an intragenic functional copy number variation (CNV) in complement receptor 1 (CR1) that is associated with Alzheimer disease (AD) risk. A recent study, however, reported a rare CR1 coding variant p.Ser1610Thr (rs4844609) associated with AD susceptibility, explaining the effect of genome wide association (GWA) top single nucleotide polymorphism rs6656401. We assessed the role of the...
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