Hyman, Bradley T

Publication Detail

The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.

Endophenotypes in normal brain morphology and Alzheimer's disease: a review.

C Reitz; R Mayeux (Profiled Author: Mayeux, Richard)

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Neuroscience 2009;164(1):174-90.

Late-onset Alzheimer's disease is a common complex disorder of old age. Though these types of disorders can be highly heritable, they differ from single-gene (Mendelian) diseases in that their causes are often multifactorial with both genetic and environmental components. Genetic risk factors that have been firmly implicated in the cause are mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes, which are found in large multi-generational families with an autosomal dominant pattern of disease inheritance, the apolipoprotein E (APOE)epsilon4 allele and the sortilin-related receptor (SORL1) gene. Environmental factors that have been associated with late-onset Alzheimer's disease include depressive illness, various vascular risk factors, level of education, head trauma and estrogen replacement therapy. This complexity may help explain their high prevalence from an evolutionary perspective, but the etiologic complexity makes identification of disease-related genes much more difficult. The "endophenotype" approach is an alternative method for measuring phenotypic variation that may facilitate the identification of susceptibility genes for complexly inherited traits. The usefulness of endophenotypes in genetic analyses of normal brain morphology and, in particular for Alzheimer's disease will be reviewed as will the implications of these findings for models of disease causation. Given that the pathways from genotypes to end-stage phenotypes are circuitous at best, identifying endophenotypes more proximal to the effects of genetic variation may expedite the attempts to link genetic variants to disorders.

3 Originating Grant

• 1.

  MAYEUX, RICHARD

  Genetic Epidemiology of Alzheimer's Disease in Hispanics

  1 December 1998 - 31 January 2014

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 10,703,458

• 2.

  Mayeux, Richard P

  GENETIC EPIDEMIOLOGY OF ALZHEIMERS DISEASE IN HISPANICS

  1 December 1998 - 31 January 2004

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 5,549,515

• 3.

  Mayeux, Richard

  Epidemiology of Dementia In An Urban Community

  1 February 1989 - 30 June 2009

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 40,531,208

Scientific Context

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