Evidence map›Paper›PMID 32785988›Full record

ArticleAnnals of clinical and translational neurology2020

Genetic variation contributes to gene expression response in ischemic stroke: an eQTL study.

Hajar Amini, Natasha Shroff, Boryana Stamova, Eva Ferino, Paulina Carmona-Mora, Xinhua Zhan, Preston P Sitorus, Heather Hull, Glen C Jickling, Frank R Sharp and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

11 citing papers in PubMed, 32 citations in OpenAlex.

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  10. Immuno-Modulatory Effects of Intervertebral Disc Cells.Frontiers in cell and developmental biology · 2022
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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

11 authors at 1 institution in 1 country.

Hajar AminiDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.ORCID 0000-0001-9364-7839
Natasha ShroffDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Boryana StamovaDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Eva FerinoDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Paulina Carmona-MoraDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Xinhua ZhanDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Preston P SitorusDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Heather HullDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Glen C JicklingDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Frank R SharpDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
Bradley P AnderDepartment of Neurology, University of California at Davis, Sacramento, California, 95817.
University of California, Davis · US

Funding

Staff InvestigatorsP30CA093373 · NCI · UNIVERSITY OF CALIFORNIA DAVIS · PI Laura Marcu · 2002 to 2026
$84.9M
Molecular Biology of Stroke in HumansR01NS075035 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI SHARP, FRANK R · 2012 to 2016
$3.1M
Genomics of Intracerebral Hemorrhage and its CausesR01NS106950 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI ANDER, BRADLEY PEARCE, SHARP, FRANK R · 2019 to 2023
$3.0M
Whole Genome RNA Sequencing (RNAseq) of Blood from Patients with Lacunar StrokeR01NS101718 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI SHARP, FRANK R, STAMOVA, BORYANA · 2017 to 2021
$3.0M
Whole Transcriptome Studies of Patients with Transient Ischemic Attacks (TIAs)R01NS097000 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI SHARP, FRANK R, STAMOVA, BORYANA · 2016 to 2020
$2.8M
A Novel Approach to Assessing Cryptogenic StrokeR01NS079153 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI SHARP, FRANK R · 2012 to 2016
$2.8M
NCI NIH HHS P30 CA093373NIA NIH HHS NS101718NINDS NIH HHS NS075035NINDS NIH HHS NS079153NINDS NIH HHS NS097000NINDS NIH HHS NS106950NINDS NIH HHS R01 NS075035NINDS NIH HHS R01 NS079153NINDS NIH HHS R01 NS097000NINDS NIH HHS R01 NS101718NINDS NIH HHS R01 NS106950
6 · The paper itself

Abstract

objectiveSingle nucleotide polymorphisms (SNPs) contribute to complex disorders such as ischemic stroke (IS). Since SNPs could affect IS by altering gene expression, we studied the association of common SNPs with changes in mRNA expression (i.e. expression quantitative trait loci; eQTL) in blood after IS.

methodsRNA and DNA were isolated from 137 patients with acute IS and 138 vascular risk factor controls (VRFC). Gene expression was measured using Affymetrix HTA 2.0 microarrays and SNP variants were assessed with Axiom Biobank Genotyping microarrays. A linear model with a genotype (SNP) × diagnosis (IS and VRFC) interaction term was fit for each SNP-gene pair.

resultsThe eQTL interaction analysis revealed significant genotype × diagnosis interaction for four SNP-gene pairs as cis-eQTL and 70 SNP-gene pairs as trans-eQTL. Cis-eQTL involved in the inflammatory response to IS included rs56348411 which correlated with neurogranin expression (NRGN), rs78046578 which correlated with CXCL10 expression, rs975903 which correlated with SMAD4 expression, and rs62299879 which correlated with CD38 expression. These four genes are important in regulating inflammatory response and BBB stabilization. SNP rs148791848 was a strong trans-eQTL for anosmin-1 (ANOS1) which is involved in neural cell adhesion and axonal migration and may be important after stroke.

interpretationThis study highlights the contribution of genetic variation to regulating gene expression following IS. Specific inflammatory response to stroke is at least partially influenced by genetic variation. This has implications for progressing toward personalized treatment strategies. Additional research is required to investigate these genes as therapeutic targets.

Indexed as

AgedFemaleGene Expression RegulationGenetic VariationHumansInflammationIschemic StrokeMaleMiddle AgedPolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID32785988
PMCPMC7480928
OpenAlexW3048493484

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.