期刊
JOURNAL OF ALZHEIMERS DISEASE
卷 70, 期 3, 页码 659-666出版社
IOS PRESS
DOI: 10.3233/JAD-190451
关键词
Alzheimer's disease; genome-wide association study; microglia; neuropathology; risk variant
资金
- Mayo Clinic Alzheimer Disease Research Center [P50 AG16574]
- Robert E. Jacoby Professorship of Alzheimer's Research
A number of Alzheimer's disease (AD) susceptibility loci are expressed abundantly in microglia. We examined associations between AD risk variants in genes that are highly expressed in microglia and neuropathological outcomes, including cerebral amyloid angiopathy (CAA) and microglial activation, in 93 AD patients. We observed significant associations of CAA pathology with APOE epsilon 4 and PTK2B rs28834970. Nominally significant associations with measures of microglial activation in white matter were observed for variants in PTK2B, PICALM, and CR1. Our findings suggest that several AD risk variants may also function as disease modifiers through amyloid-beta metabolism and white matter microglial activity.
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