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Genetic validation of ABI3 p.Ser209Phe variant and its effects on early brain pathology in asymptomatic elderly individuals.

Alzheimer's research & therapy - 19 Feb 2026

Koivumäki Mikko, Martiskainen Henna, Takalo Mari, Lehtisalo Jenni, Ngandu Tiia, Snellman Anniina, Hiltunen Mikko, Rinne Juha O

Abstract excerpt

BACKGROUND: Alzheimer's disease (AD) has a strong genetic component, with APOE ε4 being the most established risk factor through its effects on beta-amyloid (Aβ) metabolism and microglial function. Recent genetic studies have also implicated microglial genes, such as the ABI3S209F variant, to increased AD risk. As APOE ε4 and ABI3S209F influence microglial pathways through distinct mechanisms, their combined...

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Identifiers

PMID: 41709289
DOI: 10.1186/s13195-026-01984-y
PMCID: PMC13023201

Genes

APOE
ABI3

Variants

Provenance

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Related research

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Genetic validation of ABI3 p.Ser209Phe variant and its effects on early brain pathology in asymptomatic elderly individuals.PMID 41709289Read ↗

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