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Is APOE ε4 required for Alzheimer's disease to develop in TREM 2 p.R47H variant carriers?
Author(s) -
Guerreiro R.,
Orme T.,
Naj A. C.,
Kuzma A. B.,
Schellenberg G. D.,
Bras J.
Publication year - 2019
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/nan.12517
Subject(s) - biostatistics , medicine , neuropathology , gerontology , epidemiology , family medicine , disease , pathology
Murray and colleagues [1] reported the occurrence of pathologically-confirmed Alzheimer's disease (AD) in cases harbouring the TREM2 p.R47H variant only when APOE ε4 alleles were also present. They suggested that the presence of an ε4 APOE allele is necessary for the development of AD pathology in TREM2 p.R47H carriers. This is an important hypothesis as it can have significant impact on individual risk assessment and on understanding the mechanisms of disease. This article is protected by copyright. All rights reserved.