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Article

Silencer variants are key drivers of gene up-regulation in Alzheimer's disease.

Science advances - 13 Feb 2026

Huang Di, Ovcharenko Ivan

Abstract excerpt

The genetic mechanisms of ~90% of Alzheimer's disease (AD)-associated variants residing in noncoding DNA remain poorly understood. To address this, we developed a deep learning framework that integrates bulk histone modification data with single-cell open chromatin profiles to evaluate the regulatory potential of noncoding variants. This model identified 1457 silencer and 3084 enhancer AD-associated variants in...

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Share to Alzheimer Disease
Share to Enhancer Elements, Genetic
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Silencer Elements, Transcriptional

Share to Up-Regulation

Source

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Identifiers

PMID: 41671378
DOI: 10.1126/sciadv.adz3323
PMCID: PMC12893287

Genes

MS4A6A

Provenance

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

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