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Home: Papers of the Week
Annotation


Olgiati P, Politis A, Albani D, Rodilossi S, Polito L, Ateri E, Zisaki A, Piperi C, Liappas I, Stamouli E, Mailis A, Atti A, Ferrari B, Morini V, Moretti F, Biella G, Forloni G, Papadimitriou G, De Ronchi D, Kalofoutis A, Serretti A. Association of SORL1 alleles with late-onset Alzheimer's Disease. Findings from the GIGAS_LOAD study and mega-analysis. Curr Alzheimer Res. 2011 Oct 26; PubMed Abstract

Comments on Related News
  Related News: Late- and Early-Onset AD—Not So Distant at Genetic Level

Comment by:  Jean-François Foncin
Submitted 20 February 2012  |  Permalink Posted 22 February 2012
  I recommend the Primary Papers

Told you so (see reference).

I missed from the discussion a mention of the stochastic nature of gene expression, and specifically of the age at onset, as an explanation of the incomplete "penetrance" of mutations with a late expression. Penetrance is a dirty word that explains nothing, as many carriers die from other causes before expression of the mutation.

References:
Bruni AC, Montesi MP, Salmon D, Gei G, Perre J, el Hachimi KH, Foncin JF. Alzheimer's disease: a model from the quantitative study of a large kindred. J Geriatr Psychiatry Neurol. 1992 Jul-Sep;5(3):126-31. Abstract

View all comments by Jean-François Foncin
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