Evidence map›Paper›PMID 32470469›Full record

ArticleJournal of molecular and cellular cardiology2020

Identifying modifier genes for hypertrophic cardiomyopathy.

Yuanjian Chen, Fuyi Xu, Undral Munkhsaikhan, Charlie Boyle, Theresa Borcky, Wenyuan Zhao, Enkhsaikhan Purevjav, Jeffrey A Towbin, Fang Liao, Robert W Williams and 3 more

Open access · greenAbstract read
In one paragraph

Article in Journal of molecular and cellular cardiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.8field-weighted citation impact, top 13% 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

10 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
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  4. Molecular Pathways and Animal Models of Cardiomyopathies.Advances in experimental medicine and biology · 2024
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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

13 authors at 1 institution in 1 country.

Yuanjian ChenDivision of Cardiovascular Diseases, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Fuyi XuDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Undral MunkhsaikhanDepartment of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Charlie BoyleDivision of Cardiovascular Diseases, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Theresa BorckyDivision of Cardiovascular Diseases, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Wenyuan ZhaoDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Enkhsaikhan PurevjavDepartment of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Jeffrey A TowbinDepartment of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Fang LiaoDepartment of Pharmacology, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Robert W WilliamsDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Syamal K BhattacharyaDivision of Cardiovascular Diseases, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN, United States of America.
Lu LuDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, United States of America. Electronic address: llu@uthsc.edu.
Yao SunDivision of Cardiovascular Diseases, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN, United States of America. Electronic address: yasun@uthsc.edu.
University of Tennessee Health Science Center · US

Funding

Discovery of modifier genes in cardiomyopathyR01HL151438 · NHLBI · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI LU, LU, PUREVJAV, ENKHSAIKHAN · 2020 to 2023
$2.5M
Genetic Modulation of Hypertrophic Cardiomyopathy SeverityR01HL128350 · NHLBI · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI LU, LU, SUN, YAO · 2016 to 2019
$2.0M
NHLBI NIH HHS R01 HL128350NHLBI NIH HHS R01 HL151438
6 · The paper itself

Abstract

backgroundHypertrophic cardiomyopathy (HCM) severity greatly varies among patients even with the same HCM gene mutations. This variation is largely regulated by modifier gene(s), which, however, remain largely unknown. The current study is aimed to identify modifier genes using BXD strains, a large murine genetic reference population (GRP) derived from crosses between C57BL/6 J (B6) and D2 DBA/2 J (D2) mice. D2 mice natualy carrythe genetic basis and phenotypes of HCM.

methodsMyocardial hypertrophy, the major phenotype of HCM, was determined by cardiomyocyte size on cardiac sections in 30 BXD strains, and their parental B6 and D2 strains and morphometric analysis was performed. Quantitative Trait Locus (QTL) mapping for cardiomyocyte sizes was conducted with WebQTL in GeneNetwork. Correlation of cardiomyocyte size and cardiac gene expression in BXDs accessed from GeneNetwork were evaluated. QTL candidate genes associated with cardiomyocyte sizes were prioritized based on the score system.

resultsCardiomyocyte size varied significantly among BXD strains. Interval mapping on cardiomyocyte size data showed a significant QTL on chromosome (Chr) 2 at 66- 73.5 Mb and a suggestive QTL on Chr 5 at 20.9-39.7 Mb. Further score system revealed a high QTL score for Xirp2 in Chr 2. Xirp2 encodes xin actin-binding repeat containing 2, which is highly expressed in cardiac tissue and associate with cardiomyopathy and heart failure. In Chr5 QTL, Nos3, encoding nitric oxide synthase 3, received the highest score, which is significantly correlated with cardiomyocyte size.

conclusionThese results indicate that Xirp2 and Nos3 serve as novel candidate modifier genes for myocardial hypertrophy in HCM. These candidate genes will be validated in our future studies.

Indexed as

Genes, ModifierGenetic Predisposition to DiseaseAnimalsBiomarkersCardiomyopathy, HypertrophicChromosome MappingComputational BiologyDatabases, GeneticEchocardiographyGene Expression RegulationGenetic Association StudiesInheritance PatternsMiceMyocytes, CardiacPolymorphism, Single NucleotideQuantitative Trait LociBiomarkersHypertrophic cardiomyopathyModifier genesMurine genetic reference populationMyocyte hypertrophy

Identifiers

PMID32470469
PMCPMC9768851
OpenAlexW3031442934

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.