Evidence map›Paper›PMID 41857317›Full record

SynthesisNature genetics2026

A meta-analysis of single-nucleus expression quantitative trait loci linking genetic risk to brain disorders.

Beomjin Jang, Kailash Bp, Alex Tokolyi, Winston H Dredge, Ashvin Ravi, Sang-Hyuk Jung, Tatsuhiko Naito, Beomsu Kim, Min Seo Kim, Minyoung Cho and 7 more

Erratum issuedAbstract readMeta-Analysis
PubMed Publisher
In one paragraph

Synthesis in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
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  7. APOE*4 risk-modifying genes and drug targets in Alzheimer's disease through cell-type-specific genomic analyses.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  8. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Beomjin JangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0009-0008-9056-1480
Kailash BpDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.
Alex TokolyiDepartments of Computer Science and Systems Biology, Columbia University, New York City, NY, USA.ORCID http://orcid.org/0000-0003-4222-7484
Winston H DredgeDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0001-7897-3185
Ashvin RaviDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.
Sang-Hyuk JungDepartment of Medical Informatics, Kangwon National University College of Medicine, Chuncheon, Republic of Korea.ORCID http://orcid.org/0000-0003-4116-3327
Tatsuhiko NaitoDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0002-2779-4600
Beomsu KimDepartment of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0001-7410-4273
Min Seo KimMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Minyoung ChoDepartment of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0001-5023-0902
Mi-So ParkDepartment of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Mikaela RosenDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.
Joel BlanchardNash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0003-3142-2970
Jack HumphreyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0002-6274-6620
David A KnowlesDepartments of Computer Science and Systems Biology, Columbia University, New York City, NY, USA.ORCID http://orcid.org/0000-0002-7408-146X
Hong-Hee WonDepartment of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea. wonhh@skku.edu.ORCID http://orcid.org/0000-0001-5719-0552
Towfique RajDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA. towfique.raj@mssm.edu.ORCID http://orcid.org/0000-0002-9355-5704

Funding

National Research Foundation of Korea (NRF) RS-2023-00223277National Research Foundation of Korea (NRF) RS-2023-00262527U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01-NS116006U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) U54-NS123743U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) P30-AG066514U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R01-AG054005U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R56-AG055824U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) RF1-AG065926U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) U01-AG058635U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) U01-AG068880
6 · The paper itself

Abstract

Most genetic risk variants for neurological diseases are located in noncoding regulatory regions, where they often act as expression quantitative trait loci (eQTLs), modulating gene expression and influencing disease susceptibility. However, eQTL studies in bulk brain tissue or cell lines fail to capture the brain's cellular diversity. Single-nucleus RNA sequencing (snRNA-seq) allows high-resolution mapping of eQTLs across diverse brain cell types. Here we performed a meta-analysis by integrating snRNA-seq and genotype data from four cohorts, totaling 5.8 million nuclei from 983 individuals of European ancestry. We mapped cis-eQTLs and trans-eQTLs across major brain cell types and subtypes, including disease-specific and sex-specific eQTLs, and applied colocalization and Mendelian randomization to identify genes that mediate neurological disease risk. We observed up to tenfold more cis-eQTLs and uncovered cell-type-specific genes linked to neurological disease. SingleBrain is a comprehensive single-cell eQTL resource that provides insights into the genetic mechanism of brain disorders.

Indexed as

Brain DiseasesGenetic Predisposition to DiseaseQuantitative Trait LociBrainCell NucleusFemaleGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideSingle-Cell Gene Expression Analysis

Identifiers

What OpenQuestion holds

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Registered trials

None linked

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.