Distortion of Allelic Expression of Apolipoprotein E in Alzheimer's Disease

Authors: Lambert, Jean-Charles¹; Pérez-Tur, Jordi¹; Dupire, Marie-Joëlle²; Galasko, Douglas³; Mann, David³; Amouyel, Philippe³; Hardy, John³; Delacourte, André²; Chartier-Harlin, Marie-Christine¹

Source: Human Molecular Genetics, Volume 6, Number 12, November 1997 , pp. 2151-2154(4)

Publisher: Oxford University Press

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Abstract:

The APOE ε4 allele is a strong genetic susceptibility factor for Alzheimer's disease. Interaction with other biological factors may modulate the effect of the apoE isoforms. However, previous work suggested that other genetic variability within the APOE locus, influencing the effect of the ε4 allele, may exist. Such variability could modify the expression of the APOE gene and, in particular, the level of expression of APOE alleles could be an important determinant of disease pathogenesis. To test this hypothesis we examined the levels of expression of APOE in heterozygotes with AD and in controls, using a new method of semi-quantitation. We report that relative ε4 mRNA expression is increased in AD compared with controls and suggest that genetic variability in the neural expression of APOE contributes to disease risk.

Document Type: Research article

Affiliations: 1: <aff><label>, , 2: </label><institution>INSERM Unité</institution>, <addr-line>422, Place de Verdun, 59045 Lille Cedex, France</addr-line>, 3: ,

Publication date: 1997-11-01

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