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Article

Exploring potential mechanisms of an African protective locus for Alzheimer's disease in APOEε4 carriers.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Jul 2025

Bertholim-Nasciben Luciana, Nuytemans Karen, Van Booven Derek, Rajabli Farid, Moura Sofia, Ramirez Aura M, Parker Griffin S, Dykxhoorn Derek M, Wang Liyong, Scott William K, Davis David A, Vontell Regina T, McInerney Katalina F, Cuccaro Michael L, Byrd Goldie S, Haines Jonathan L, Gearing Marla, Adams Larry D, Pericak-Vance Margaret A, Young Juan I, Griswold Anthony J, Vance Jeffery M

Abstract excerpt

INTRODUCTION: We recently described that the African-specific A allele of rs10423769, which lies in an area of segmental duplications, reduces Alzheimer's disease (AD) risk by ∼ 75% in apolipoprotein E (APOE) ε4 homozygotes. METHODS: Short and long-read sequencing were used to identify the haplotype harboring rs10423769_A and examine DNA methylation and structural variation (SV). RESULTS: A unique 21 kb haplotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40704449
DOI: 10.1002/alz.70500
PMCID: PMC12287753

Genes

APOE
ZNF222

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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