Article
Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 May 2021
Kim Young Won, Al-Ramahi Ismael, Koire Amanda, Wilson Stephen J, Konecki Daniel M, Mota Samantha, Soleimani Shirin, Botas Juan, Lichtarge Olivier
Abstract excerpt
The strongest genetic risk factor for idiopathic late-onset Alzheimer's disease (LOAD) is apolipoprotein E (APOE) ɛ4, while the APOE ɛ2 allele is protective. However, there are paradoxical APOE ɛ4 carriers who remain disease-free and APOE ɛ2 carriers with LOAD. We compared exomes of healthy APOE ɛ4 carriers and APOE ɛ2 Alzheimer's disease (AD) patients, prioritizing coding variants based on their predicted...
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