Evidence map›Paper›PMID 20038796›Full record

ArticleThe Journal of clinical investigation2010

Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease.

Scot J Matkovich, Derek J Van Booven, Anna Hindes, Min Young Kang, Todd E Druley, Francesco L M Vallania, Robi D Mitra, Muredach P Reilly, Thomas P Cappola, Gerald W Dorn

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of clinical investigation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
4.5field-weighted citation impact, top 5% 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

32 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Review
  5. Review
  6. Article
  7. Review
  8. Review
  9. HSPB7 is indispensable for heart development by modulating actin filament assembly.Proceedings of the National Academy of Sciences of the United States of America · 2017
    Article
  10. Article
  11. Genetic polymorphisms associated with heart failure: A literature review.The Journal of international medical research · 2016
    Review
  12. Review
  13. Article
  14. Common Variants for Heart Failure.Current genomics · 2015
    Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article
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

10 authors at 2 institutions in 2 countries.

Scot J MatkovichCenter for Pharmacogenomics, Department of Medicine, Washington University School of Medicine, 660 S. Eucliud Avenue, St. Louis, Missouri 63110, USA.
Derek J Van Booven
Anna Hindes
Min Young Kang
Todd E Druley
Francesco L M Vallania
Robi D Mitra
Muredach P Reilly
Thomas P Cappola
Gerald W Dorn
PharmacoGenetics (China) · CNUniversity of Pennsylvania · US

Funding

Washington University Institute of Clinical and Translational Sciences (UL1)UL1RR024992 · NCRR · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2007 to 2011
$45.4M
Washington University Institute of Clinical and Translational SciencesUL1TR000448 · NCATS · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2012 to 2016
$41.4M
PKCa Signaling Regulates Contractility and Heart FailureP50HL077101 · NHLBI · UNIVERSITY OF CINCINNATI · PI KRANIAS, EVANGELIA G · 2005 to 2009
$19.1M
Training of the Pediatric Physician-ScientistT32HD043010 · NICHD · WASHINGTON UNIVERSITY · PI MARK E. LOWE · 2002 to 2026
$6.4M
Genomics of myocardial transcription factors in cardiac remodelingR01HL088577 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI CAPPOLA, THOMAS P. · 2007 to 2013
$5.3M
G-Protein Receptor Kinases in Cardiac Stress AdaptationR01HL087871 · NHLBI · WASHINGTON UNIVERSITY · PI DORN, GERALD W. · 2007 to 2016
$4.1M
CTRIP: Genetic Testing to Individualize Management of Common Heart DiseasesRC2HL102222 · NHLBI · WASHINGTON UNIVERSITY · PI DORN, GERALD W. · 2009 to 2010
$1.9M
NCATS NIH HHS UL1 TR000448NCRR NIH HHS UL1 RR024992NHLBI NIH HHS P50 HL077101NHLBI NIH HHS R01 HL087871NHLBI NIH HHS R01 HL088577NHLBI NIH HHS RC2 HL102222NICHD NIH HHS T32 HD043010
6 · The paper itself

Abstract

Sporadic heart failure is thought to have a genetic component, but the contributing genetic events are poorly defined. Here, we used ultra-high-throughput resequencing of pooled DNAs to identify SNPs in 4 biologically relevant cardiac signaling genes, and then examined the association between allelic variants and incidence of sporadic heart failure in 2 large Caucasian populations. Resequencing of DNA pools, each containing DNA from approximately 100 individuals, was rapid, accurate, and highly sensitive for identifying common and rare SNPs; it also had striking advantages in time and cost efficiencies over individual resequencing using conventional Sanger methods. In 2,606 individuals examined, we identified a total of 129 separate SNPs in the 4 cardiac signaling genes, including 23 nonsynonymous SNPs that we believe to be novel. Comparison of allele frequencies between 625 Caucasian nonaffected controls and 1,117 Caucasian individuals with systolic heart failure revealed 12 SNPs in the cardiovascular heat shock protein gene HSPB7 with greater proportional representation in the systolic heart failure group; all 12 SNPs were confirmed in an independent replication study. These SNPs were found to be in tight linkage disequilibrium, likely reflecting a single genetic event, but none altered amino acid sequence. These results establish the power and applicability of pooled resequencing for comparative SNP association analysis of target subgenomes in large populations and identify an association between multiple HSPB7 polymorphisms and heart failure.

Indexed as

Polymorphism, Single NucleotideAdultAgedBlack PeopleGene FrequencyHeart Failure, SystolicHeat-Shock ProteinsHSP27 Heat-Shock ProteinsHumansMiddle AgedMolecular ChaperonesSequence Analysis, DNAWhite PeopleHeat-Shock ProteinsHSP27 Heat-Shock ProteinsHSPB1 protein, humanMolecular Chaperones

Identifiers

PMID20038796
PMCPMC2798680
OpenAlexW2150574868

What OpenQuestion holds

Textmetadata
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.