Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity. - AlzForum Alzheimer Research Paper of the Week


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Home: Papers of the Week

Annotation

	Choi Y, Marchani EE, Bird TD, Steinbart EJ, Blacker D, Wijsman EM. Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):785-98. 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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