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Last Posted: Mar 16, 2023
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Association of African Ancestry-Specific APOE Missense Variant R145C With Risk of Alzheimer Disease.
Yann Le Guen et al. JAMA 2023 2 (7) 551-560

Are APOE amino acid–altering variants, other than the common APOE alleles e2 and e4, associated with Alzheimer disease (AD) risk in individuals of African ancestry? In this exploratory case-control analysis that included 31?929 participants of African ancestry, stratified analyses demonstrated that the APOE e3[R145C] missense variant was associated with an increased risk of AD among individuals with the e3/e4 genotype in a discovery cohort (odds ratio, 3.01), a replication cohort (odds ratio, 2.20), and an external validation cohort (odds ratio, 1.90).

Drug trial for Alzheimer's disease is a game changer.
Eric M Reiman et al. Nature 2023 2

An antibody treatment reduces measurements of brain abnormalities called amyloid plaques in people with Alzheimer’s disease, and lessens clinical decline. This result will help in developing therapies to treat and prevent the disease.

The Alzheimer’s risk gene APOE modulates the gut–brain axis
AM Pena et al, Nature, February 6, 2023

Signals from gut microorganisms to the brain might be involved in neurodegeneration. It emerges that the gene APOE — variants of which each confer a different risk of Alzheimer’s disease — has a role in modulating this gut–brain communication.

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study.
Boerwinkle Anna H et al. The Lancet. Neurology 2022 12 (1) 55-65

Despite minor differences, amyloid PET changes were similar between people with autosomal dominant Alzheimer's disease versus Down syndrome and strongly supported early amyloid dysregulation in individuals with Down syndrome. Individuals with Down syndrome aged at least 35 years might benefit from early intervention and warrant future inclusion in clinical trials, particularly given the relatively high incidence of Down syndrome.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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