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PICALM

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Genetic Variants in Alzheimer's Disease

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Abstract

A single nucleotide polymorphism near to the PICALM gene was found to be associated with susceptibility to Alzheimer’s disease (AD) by a large genome-wide association study in 2009, a finding which has subsequently been extensively replicated. It has been speculated that this link is due to PICALM’s role in clathrin mediated endocytosis, a process with which other AD associated genes have been linked, but as yet the gene’s contribution to AD risk is poorly understood. Significant research is required to determine which genetic variants convey this alteration in risk, and how this effect is manifested.

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  1. Human Genetics, School of Molecular Medical Sciences, Queen’s Medical Centre, University of Nottingham, Nottingham, NG7 2UH, UK

    Jenny Lord & Kevin Morgan

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  1. Queen's Medical Centre, School of Molecular Medical Sciences, University of Nottingham, Hucknall Road, Nottingham, NG7 2UH, United Kingdom

    Kevin Morgan

  2. , Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, 32224, USA

    Minerva M. Carrasquillo

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Lord, J., Morgan, K. (2013). PICALM. In: Morgan, K., Carrasquillo, M. (eds) Genetic Variants in Alzheimer's Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7309-1_4

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