Evidence map›Paper›PMID 42273872›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2026

Allele specific expression in Alzheimer's disease.

Zishan Wang, Delowar Hossain, Judy Jiaru Wang, Varun R Subramaniam, Bin Zhang, Minghui Wang, Kuan-Lin Huang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Zishan WangDepartment of Genetics and Genomic Sciences, Center for Transformative Disease Modeling, Tisch Cancer Institute, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID https://orcid.org/0000-0002-5980-4711
Delowar HossainDivision of Experimental Medicine, McGill University, Montréal, Québec, Canada.
Judy Jiaru WangCollege of Arts and Sciences, Cornell University, Ithaca, New York, USA.
Varun R SubramaniamDepartment of Genetics and Genomic Sciences, Center for Transformative Disease Modeling, Tisch Cancer Institute, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Bin ZhangDepartment of Genetics and Genomic Sciences, Center for Transformative Disease Modeling, Tisch Cancer Institute, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Minghui WangDepartment of Genetics and Genomic Sciences, Center for Transformative Disease Modeling, Tisch Cancer Institute, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Kuan-Lin HuangDepartment of Genetics and Genomic Sciences, Center for Transformative Disease Modeling, Tisch Cancer Institute, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Funding

Integrative Approaches for Identifying Causal Gene-Cell Type Pairs of Complex DiseaseR35GM138113 · NIGMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Kuan-lin Huang · 2020 to 2026
$3.0M
Dissect regulation of glial nets surrounding amyloid plaques in Alzheimer's diseaseRF1AG077828 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI FRIEDEL, ROLAND HORST, WANG, MINGHUI · 2022 to 2022
$1.8M
Systematic identification of genetic modifiers of dysfunctional neuronal networks in Alzheimer's diseaseR21AG077168 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LI, AIQUN, WANG, MINGHUI · 2022 to 2022
$465k
Alzheimer's Association AARG-22-928419Clinical and Translational Science Awards (CTSA) UL1TR004419NIA NIH HHS R21AG077168NIA NIH HHS RF1AG077828NIGMS NIH HHS 2R35GM138113NIGMS NIH HHS R35GM138113Office of Research Infrastructure of the National Institutes of Health S10OD026880Office of Research Infrastructure of the National Institutes of Health S10OD030463
6 · The paper itself

Abstract

introductionAllele-specific expression (ASE), preferential expression of one allele at a heterozygous locus, is implicated in various brain diseases but remains largely uncharacterized in Alzheimer's disease (AD).

methodsWe performed a genome-wide characterization of ASE variants across seven brain regions of 2,231 AD and Control patients from Mount Sinai Brain Bank (MSBB) and Religious Orders Study/Memory and Aging Project (ROSMAP) cohorts and investigated cell-type-specific activity via single-cell analysis.

resultsWe identified 56,136 unique ASE variants that were enriched in imprinted chromosomal regions, e.g., chr6, chr14q32, and chr15q11. ASE variants were also found in exons of known AD-associated genes, including apolipoprotein E (APOE), CLU, CTSB, and HLA-DRB1. Forty variants exhibited AD-associated ASE, and the affected genes, including SLC12A5, SYT13, and TOMM7, were predominantly downregulated in multiple cell types, including astrocytes, excitatory neurons, and oligodendrocytes. DISCUSSION: We provided a detailed landscape of ASE in AD, uncovering novel functional variants and highlighting their potential cell-type-specific contributions to disease pathogenesis.

Indexed as

AllelesAlzheimer DiseaseBrainAgedFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleallele specific expressionAlzheimer's diseasemulti‐omics

Identifiers

PMID42273872
PMCPMC13254825

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.