Evidence map›Paper›PMID 40502569›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Mosaic chromosomal alterations in blood are associated with an increased risk of Alzheimer's disease.

Tatsuhiko Naito, Kosei Hirata, Beomjin Jang, Chirag M Lakhani, Alice Buonfiglioli, Wan-Ping Lee, Otto Valladares, Li-San Wang, Yukinori Okada, Hong-Hee Won and 4 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

14 authors.

Tatsuhiko NaitoDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-2779-4600
Kosei HirataDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Beomjin JangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Chirag M LakhaniNew York Genome Center, New York, NY, USA.
Alice BuonfiglioliDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Wan-Ping LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Otto ValladaresDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Li-San WangDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Hong-Hee WonDepartment of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Eirini P PapapetrouDepartment of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Samuele G MarroNash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
David A KnowlesNew York Genome Center, New York, NY, USA.
Towfique RajDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-9355-5704

Funding

Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4M
Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Margaret Sewell · 2020 to 2026
$31.0M
Human Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI PETRUCELLI, LEONARD · 2021 to 2025
$8.2M
Learning the Regulatory Code of Alzheimer's Disease GenomesU01AG068880 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KNOWLES, DAVID ARTHUR, RAJ, TOWFIQUE · 2020 to 2024
$5.8M
Genomic approach to identification of microglial networks involved in Alzheimer’s disease riskU01AG058635 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GOATE, ALISON M · 2018 to 2022
$4.8M
The role of peripheral myeloid cells in Alzheimers diseaseR01AG054005 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI RAJ, TOWFIQUE · 2017 to 2021
$4.1M
The Role of Myeloid Cells in Parkinson's DiseaseR01NS116006 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Towfique Raj · 2021 to 2026
$4.0M
Modeling the impact of regulatory and splicing variants on cellular function in Alzheimer's diseaseRF1AG065926 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER, RAJ, TOWFIQUE · 2021 to 2021
$2.4M
COVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0M
Big Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0M
The Role of Alternative Splicing in NeurodegenerationR56AG055824 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI RAJ, TOWFIQUE · 2019 to 2019
$804k
The impact of Alzheimer's disease susceptibility alleles on microglia transcriptomeR21AG063130 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DE WITTE, LOTJE DOROTHEE, RAJ, TOWFIQUE · 2020 to 2020
$599k
NCATS NIH HHS UL1 TR004419NIA NIH HHS P30 AG066514NIA NIH HHS R01 AG054005NIA NIH HHS R21 AG063130NIA NIH HHS R56 AG055824NIA NIH HHS R56 AG088669NIA NIH HHS RF1 AG065926NIA NIH HHS U01 AG058635NIA NIH HHS U01 AG068880NIH HHS S10 OD026880NIH HHS S10 OD030463NINDS NIH HHS R01 NS116006NINDS NIH HHS U54 NS123743
6 · The paper itself

Abstract

Mosaic chromosomal alterations (mCAs) in blood, a form of clonal hematopoiesis, have been linked to various diseases, but their role in Alzheimer's disease (AD) remains unclear. We analyzed blood whole-genome sequencing (WGS) data from 24,049 individuals in the Alzheimer's Disease Sequencing Project and found that autosomal mCAs were significantly associated with increased AD risk (odds ratio = 1.27;

Identifiers

PMID40502569
PMCPMC12155033

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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.