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The Genetics of Alzheimer’s Disease

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Alzheimer’s Disease

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4. Conclusion

Despite the great progress in the field of AD genetics that has led to the discovery and confirmation of three autosomal-dominant early-onset genes (APP, PSEN1, PSEN1) and one late-onset risk-factor (APOE), strong evidence exists suggesting the presence of additional AD genes for both forms of the disease. The hunt for these genes is aggravated by several factors that generally complicate the identification of complex disease genes: locus and/or allelic heterogeneity; small effect sizes of the underlying variants; unknown and difficult to model interaction patterns; population differences; insufficient sample sizes/sampling strategies; and, linkage disequilibrium among polymorphisms other than those initially associated with the disease. The emergence of more powerful and efficient genotyping technologies (e.g. whole genome association screening) as well as analysis tools (e.g. systematic and continuously updated meta-analyses) should enable us to disentangle the genetics of AD and other complex diseases. Eventually, the insights gained from such studies will lead to a better understanding of the pathophysiological mechanisms leading to neurodegeneration. This knowledge will lay the foundation to developing new treatment strategies that will ultimately allow to cure, delay or even prevent this devastating disease.

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Authors and Affiliations

  1. Genetics and Aging Research Unit Department of Neurology MassGeneral Institute for Neurodegenerative Diseases (MIND), Massachusetts General Hospital, 114 16th Street, Charlestown, MA, 02129

    Lars Bertram MD

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  1. Lars Bertram MD
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Editor information

Editors and Affiliations

  1. The University of Chicago, IL

    Sangram S. Sisodia

  2. Massachusetts General Hospital and Harvard Medical School, USA

    Rudolph E. Tanzi

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Bertram, L. (2007). The Genetics of Alzheimer’s Disease. In: Sisodia, S.S., Tanzi, R.E. (eds) Alzheimer’s Disease. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-35135-3_1

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