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Title: Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes
Authors: 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 #
Issue Date: Sep-2013
Publisher: Elsevier
Series Title: Neurobiology of Aging vol:34 issue:9 pages:2235.e1-6
Article number: 10.1016/j.neurobiolaging.2013.03.008
Abstract: 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 Ser1610Thr variant in AD pathogenesis and the effect on AD-related endophenotypes in a Flanders-Belgian cohort. We evaluated whether this rare variant rather than the CR1 CNV could explain the association of CR1 in our population. The Ser1610Thr variant was not associated with AD, memory impairment, total tau, amyloid β(1-42) or tau phosphorylated at threonine 181 levels. It did not explain (part of) the association of genome wide association top single-nucleotide polymorphisms rs3818361/rs6656401, nor of the CR1 CNV, with AD in our cohort, whereas the CR1 CNV and rs3818361/rs6656401 represented the same association signal. These findings question a role for the Ser1610Thr variant in AD risk and related endophenotypes, and reaffirm our previous observation that the CR1 CNV could be the true functional risk factor explaining the association between CR1 and AD.
URI: 
ISSN: 0197-4580
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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