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Of replications and refutations: The status of Alzheimer’s disease genetic research

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Abstract

Alzheimer’s disease (AD) is a genetically complex and heterogeneous disorder. To date, mutations in three genes (APP, PSEN1, PSEN2) have been described to cause familial early-onset AD. In addition, a common polymorphism in the gene encoding apolipoprotein E (APOE) has been associated with the more common late-onset form of the disease. However, many studies have shown that genetic factors other than APOE play an important role in lateonset AD. Along these lines, a recent report predicted the existence of at least four additional late-onset AD genes, one of which was estimated to have a much greater contribution to age of onset variation than the APOE e4-allele. However, most of the nearly three dozen loci that have been proposed as putative AD genes to date have been followed by both replications and refutations, making consensus impossible. In this overview, we discuss the current status of genetic research in AD, including a brief summary of applicable analytic tools, and a summary of recent findings suggesting the existence of novel AD genes on chromosomes 10, 11, and 12.

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Authors and Affiliations

  1. Genetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, 114 16th Street, 02129, Charlestown, MA, USA

    Lars Bertram MD & Rudolph E. Tanzi PhD

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  1. Lars Bertram MD
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  2. Rudolph E. Tanzi PhD
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Bertram, L., Tanzi, R.E. Of replications and refutations: The status of Alzheimer’s disease genetic research. Curr Neurol Neurosci Rep 1, 442–450 (2001). https://doi.org/10.1007/s11910-001-0104-9

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  • DOI: https://doi.org/10.1007/s11910-001-0104-9

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