. Allelic variation in human gene expression. Science. 2002 Aug 16;297(5584):1143. PubMed.


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  1. It is interesting [that] the authors show that some fraction of genes with allelic variation have differential expression of the alleles present. This theoretically could affect certain disease pathways depending on the genes involved. To my knowledge, there is not good evidence that this type of change occurs secondary to differential expression of apoE alleles. Plus, given the differences between the function of apoE isoforms in regard to properties such as Ab levels and deposition, I suspect that the effects described in this paper are not likely at play with apoE and Alzheimer's. It probably should be examined, however, at the level of the apoE mRNA and protein within the CNS in a rigorous fashion. The paper makes a good point, though, that for any gene related to a disease that has different allelic variants, this effect should probably be looked for as an alternative reason for why a particular allele may be disease-linked.

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