TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease

@inproceedings{Rayaprolu2013TREM2IN,
  title={TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease},
  author={S. R. Pavan Kumar. Rayaprolu and Bianca Mullen and Matt C Baker and Timothy Lynch and Elizabeth C. Finger and William W. Seeley and Kimmo J. Hatanpaa and Catherine Lomen-Hoerth and Andrew Kertesz and Eileen Bigio and Carol F Lippa and Keith A. Josephs and David S. Knopman and Charles L. White and Richard J. Caselli and Ian R Mackenzie and Bruce L. Miller and Magdalena Boczarska-Jedynak and Grzegorz M Opala and Anna Krygowska-Wajs and Maria Barcikowska and Steven G. Younkin and Ronald C. Petersen and Nil{\"u}fer Ertekin-Taner and Ryan J. Uitti and James F Meschia and Kevin B. Boylan and Bradley F. Boeve and Neill R. Graff-Radford and Zbigniew K Wszolek and Dennis W. Dickson and Rosa Rademakers and Owen A. Ross},
  booktitle={Molecular Neurodegeneration},
  year={2013}
}
A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) gene has been reported to be a genetic risk factor for Alzheimer’s disease by two independent groups (Odds ratio between 2.9-4.5). Given the key role of TREM2 in the effective phagocytosis of apoptotic neuronal cells by microglia, we hypothesized that dysfunction of TREM2 may play a more generalized role in neurodegeneration. With this in mind we set out to assess the genetic association of the Alzheimer’s disease… CONTINUE READING
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