Article
Investigation of the independent role of a rare APOE variant (L28P; APOE*4Pittsburgh) in late-onset Alzheimer disease.
Neurobiology of aging - 1 Feb 2023
Fan KangHsien, Francis Lily, Aslam M Muaaz, Bedison Margret A, Lawrence Elizabeth, Acharya Vibha, Snitz Beth E, Ganguli Mary, DeKosky Steven T, Lopez Oscar L, Feingold Eleanor, Kamboh M Ilyas
Abstract excerpt
A rare missense APOE variant (L28P; APOE*4Pittsburgh), which is present only in populations with European ancestry, has been reported to be a risk factor for late-onset Alzheimer's disease (LOAD). However, due to the complete linkage disequilibrium of L28P with APOE*4 (C112R), its independent genetic association is uncertain. The original association study implicating L28P with LOAD risk was carried out in a...
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