Evidence map›Paper›PMID 33046718›Full record

ArticleScientific data2020

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions.

Solveig K Sieberts, Thanneer M Perumal, Minerva M Carrasquillo, Mariet Allen, Joseph S Reddy, Gabriel E Hoffman, Kristen K Dang, John Calley, Philip J Ebert, James Eddy and 11 more

Open access · goldAbstract read
In one paragraph

Article in Scientific data, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 9 pooled it
24.4field-weighted citation impact, top 1% of its field
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

77 citing papers in PubMed, 9 syntheses or guidelines pooled it, 328 citations in OpenAlex.

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17 more citing papers are in PubMed but not listed here.

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

21 authors at 20 institutions in 7 countries.

Solveig K SiebertsSage Bionetworks, Seattle, WA, 98121, USA. solly.sieberts@sagebase.org.ORCID http://orcid.org/0000-0003-1033-0954
Thanneer M PerumalSage Bionetworks, Seattle, WA, 98121, USA.
Minerva M CarrasquilloDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, 32224, USA.ORCID http://orcid.org/0000-0002-3231-9134
Mariet AllenDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, 32224, USA.
Joseph S ReddyDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, 32224, USA.ORCID http://orcid.org/0000-0002-1783-4453
Gabriel E HoffmanPamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0002-0957-0224
Kristen K DangSage Bionetworks, Seattle, WA, 98121, USA.ORCID http://orcid.org/0000-0002-7512-4476
John CalleyLilly Research Labs, Eli Lilly and Company, Indianapolis, IN, 46225, USA.
Philip J EbertLilly Research Labs, Eli Lilly and Company, Indianapolis, IN, 46225, USA.
James EddySage Bionetworks, Seattle, WA, 98121, USA.
Xue WangDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, 32224, USA.
Anna K GreenwoodSage Bionetworks, Seattle, WA, 98121, USA.
Sara MostafaviDepartments of Statistics and Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
CommonMind Consortium (CMC)
The AMP-AD Consortium
Larsson OmbergSage Bionetworks, Seattle, WA, 98121, USA.
Mette A PetersSage Bionetworks, Seattle, WA, 98121, USA.
Benjamin A LogsdonSage Bionetworks, Seattle, WA, 98121, USA.ORCID http://orcid.org/0000-0002-0572-2569
Philip L De JagerCenter for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Medical Center, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0002-8057-2505
Nilüfer Ertekin-TanerDepartment of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, 32224, USA.
Lara M MangraviteSage Bionetworks, Seattle, WA, 98121, USA. lara.mangravite@sagebase.org.ORCID http://orcid.org/0000-0001-7841-3612
Icahn School of Medicine at Mount Sinai · USAbbVie (United States) · USEli Lilly (United States) · USSage Bionetworks · USBiogen (United States) · USColumbia University Irving Medical Center · USDuke University · USMayo Clinic in Florida · USEmory University · USAllen Institute for Brain Science · USNuffield Orthopaedic Centre · GBRush University Medical Center · USUniversity of Pittsburgh · USUniversity of Trento · ITGlaxoSmithKline (United Kingdom) · GBHarvard University · USMassachusetts Institute of Technology · USBaylor College of Medicine · USHelmholtz Zentrum München · DEInstitute for Systems Biology · US

Funding

Vascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI Richard B. LIPTON · 1985 to 2026
$73.9M
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
SUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6M
SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1M
EPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3M
VESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI SCHIMMING, CORBETT · 1985 to 2019
$37.9M
THE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9M
Research Education ComponentP30AG062677 · NIA · MAYO CLINIC ROCHESTER · PI Walter K. Kremers · 2019 to 2026
$33.5M
Research Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI GONZALEZ HERNANDEZ, GRACIELA · 2001 to 2020
$32.5M
Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI NIKOLAOS K ROBAKIS · 2020 to 2026
$31.0M
Integrative Network Biology Approaches to Identify, Characterize and Validate Molecular Subtypes in Alzheimer's DiseaseU01AG046170 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI WANG, MINGHUI, ZHANG, BIN · 2013 to 2022
$26.0M
Integrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, PETERS, METTE · 2013 to 2022
$24.6M
NIA NIH HHS F31 AG051381NIA NIH HHS P01 AG002219NIA NIH HHS P01 AG003949NIA NIH HHS P01 AG017216NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG062677NIA NIH HHS P30 AG066514NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025711NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG030146NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG036836NIA NIH HHS R01 AG046171NIA NIH HHS R01 AG046174NIA NIH HHS R01 AG061796NIA NIH HHS R03 AG022193NIA NIH HHS RF1 AG051504NIA NIH HHS RF1 AG057443NIA NIH HHS T32 AG049688NIA NIH HHS U01 AG006576NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG046139NIA NIH HHS U01 AG046152NIA NIH HHS U01 AG046161NIA NIH HHS U01 AG046170NIA NIH HHS U24 AG061340NIDA NIH HHS HHSN271201300031CNIMH NIH HHS P50 MH066392NIMH NIH HHS P50 MH084051NIMH NIH HHS P50 MH084053NIMH NIH HHS P50 MH096891NIMH NIH HHS R01 MH075916NIMH NIH HHS R01 MH080405NIMH NIH HHS R01 MH085542NIMH NIH HHS R01 MH093725NIMH NIH HHS R01 MH097276NIMH NIH HHS R01 MH109677NIMH NIH HHS R01 MH109897NIMH NIH HHS R01 MH110921NIMH NIH HHS R03 MH066923NIMH NIH HHS R37 MH057881NIMH NIH HHS U01 MH103392NINDS NIH HHS R01 NS080820NINDS NIH HHS U24 NS072026
6 · The paper itself

Abstract

The availability of high-quality RNA-sequencing and genotyping data of post-mortem brain collections from consortia such as CommonMind Consortium (CMC) and the Accelerating Medicines Partnership for Alzheimer's Disease (AMP-AD) Consortium enable the generation of a large-scale brain cis-eQTL meta-analysis. Here we generate cerebral cortical eQTL from 1433 samples available from four cohorts (identifying >4.1 million significant eQTL for >18,000 genes), as well as cerebellar eQTL from 261 samples (identifying 874,836 significant eQTL for >10,000 genes). We find substantially improved power in the meta-analysis over individual cohort analyses, particularly in comparison to the Genotype-Tissue Expression (GTEx) Project eQTL. Additionally, we observed differences in eQTL patterns between cerebral and cerebellar brain regions. We provide these brain eQTL as a resource for use by the research community. As a proof of principle for their utility, we apply a colocalization analysis to identify genes underlying the GWAS association peaks for schizophrenia and identify a potentially novel gene colocalization with lncRNA RP11-677M14.2 (posterior probability of colocalization 0.975).

Indexed as

Gene Expression ProfilingQuantitative Trait LociCerebellar CortexCerebral CortexDatasets as TopicGenome-Wide Association StudyHumansMeta-Analysis as TopicRNA, Long NoncodingSchizophreniaRNA, Long Noncoding

Identifiers

PMID33046718
PMCPMC7550587
OpenAlexW3092045521

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.