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. 2011 Mar 31:2011:490140.
doi: 10.4061/2011/490140.

Neuroimaging measures as endophenotypes in Alzheimer's disease

Meredith N Braskie  1 , John M Ringman, Paul M Thompson
Affiliations

Neuroimaging measures as endophenotypes in Alzheimer's disease

Meredith N Braskie et al. Int J Alzheimers Dis. .

Abstract

Late onset Alzheimer's disease (AD) is moderately to highly heritable. Apolipoprotein E allele ε4 (APOE4) has been replicated consistently as an AD risk factor over many studies, and recently confirmed variants in other genes such as CLU, CR1, and PICALM each increase the lifetime risk of AD. However, much of the heritability of AD remains unexplained. AD is a complex disease that is diagnosed largely through neuropsychological testing, though neuroimaging measures may be more sensitive for detecting the incipient disease stages. Difficulties in early diagnosis and variable environmental contributions to the disease can obscure genetic relationships in traditional case-control genetic studies. Neuroimaging measures may be used as endophenotypes for AD, offering a reliable, objective tool to search for possible genetic risk factors. Imaging measures might also clarify the specific mechanisms by which proposed risk factors influence the brain.

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Figures

Figure 1
Figure 1
Common genetic variants (single nucleotide polymorphisms) associated with temporal lobe volume in a GWA study are shown in (a) along with an image showing the effects of the top hit, GRIN2b, on brain volume [81].The figure is adapted from Stein et al. (2010) with kind permission from the authors and publishers. (b) shows the effect (regression coefficients) of the candidate obesity gene, FTO, on brain atrophy in a cognitively normal adults and those with MCI and AD [76]. The figure is adapted from Ho et al. (2010) with kind permission from the authors and publishers.
See this image and copyright information in PMC

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