Association between common variants in RBFOX1 an RNA-Binding protein, and brain amyloidosis in early and preclinical Alzheimer Disease
JAMA Neurology Oct 15, 2020
Raghavan NS, Dumitrescu L, Mormino E, et al. - This study was undertaken to investigate the underlying genetic basis for brain amyloidosis in the preclinical phase of Alzheimer's disease. Between 1994 and 2019, researchers performed a meta-analysis applying genetic and imaging data acquired from six multicenter cohort studies of 4,314 healthy older patients: the Anti-Amyloid Treatment in Asymptomatic Alzheimer Disease Study, the Berkeley Aging Cohort Study, the Wisconsin Registry for Alzheimer’s Prevention, the Biomarkers of Cognitive Decline Among Normal Individuals cohort, the Baltimore Longitudinal Study of Aging, and the Alzheimer Disease Neuroimaging Initiative, which included Alzheimer disease and mild cognitive impairment. It was shown that in neuronal tissues, RBFOX1 encodes a neuronal RNA-binding protein known to be expressed and may play a role in neuronal development. The data from this research imply that RBFOX1 is a novel locus that may be involved in the pathogenesis of Alzheimer disease. Lower expression of RBFOX1 seemed to be linked with greater amyloid burden and global cognitive decline during life.
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