Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes.

@article{Cauwenberghe2013ComplementR1,
  title={Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes.},
  author={Caroline Van Cauwenberghe and Karolien Bettens and Sebastiaan Engelborghs and Mathieu Vandenbulcke and Jasper Van Dongen and Steven Vermeulen and Rik Vandenberghe and Peter Paul De Deyn and Christine van Broeckhoven and Kristel Sleegers},
  journal={Neurobiology of aging},
  year={2013},
  volume={34 9},
  pages={2235.e1-6}
}
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… CONTINUE READING