Evidence map›Paper›PMID 21348951›Full record

ArticleClinical and translational science2011

Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

Afshin Parsa, Yen-Pei C Chang, Reagan J Kelly, Mary C Corretti, Kathleen A Ryan, Shawn W Robinson, Stephen S Gottlieb, Sharon L R Kardia, Alan R Shuldiner, Stephen B Liggett

Open access · bronzeAbstract read
In one paragraph

Article in Clinical and translational science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
1.2field-weighted citation impact, top 19% 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

22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.

  1. Exploration of Potential Genetic Biomarkers for Heart Failure: A Systematic Review.International journal of environmental research and public health · 2021
    Pooled it
  2. Pooled it
  3. Using Omics to Identify Novel Therapeutic Targets in Heart Failure.Circulation. Genomic and precision medicine · 2024
    Review
  4. Genetic approaches toward understanding the individual variation in cardiac structure, function and responses to exercise training.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2021
    Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Common Variants for Heart Failure.Current genomics · 2015
    Article
  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 3 institutions in 1 country.

Afshin ParsaDepartment of Medicine, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
Yen-Pei C Chang
Reagan J Kelly
Mary C Corretti
Kathleen A Ryan
Shawn W Robinson
Stephen S Gottlieb
Sharon L R Kardia
Alan R Shuldiner
Stephen B Liggett
University of Maryland, Baltimore · USUniversity of Michigan · USJohns Hopkins University · US

Funding

PKCa Signaling Regulates Contractility and Heart FailureP50HL077101 · NHLBI · UNIVERSITY OF CINCINNATI · PI DORN, GERALD W. · 2005 to 2009
$19.1M
Genetic & Functional Analyses of Hypertension Susceptibility GenesR01HL088120 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI CHANG, YEN PEI CHRISTY · 2007 to 2017
$3.9M
NHLBI NIH HHS HL077101NHLBI NIH HHS P50 HL077101NHLBI NIH HHS R01 HL088120NICHD NIH HHS HD05224
6 · The paper itself

Abstract

A three-stage approach was undertaken using genome-wide, case-control, and case-only association studies to identify genetic variants associated with heart failure mortality. In an Amish founder population (n = 851), cardiac hypertrophy, a trait integral to the adaptive response to failure, was found to be heritable (h² = 0.28, p = 0.0002) and GWAS revealed 21 candidate hypertrophy SNPs. In a case (n = 1,610)-control (n = 463) study in unrelated Caucasians, one of the SNPs associated with hypertrophy (rs2207418, p = 8 × 10⁻⁶), was associated with heart failure, RR = 1.85(1.25-2.73, p = 0.0019). In heart failure cases rs2207418 was associated with increased mortality, HR = 1.51(1.20-1.97, p = 0.0004). There was consistency between studies, with the GG allele being associated with increased ventricular mass (~13 g/m²) in the Amish, heart failure risk, and heart failure mortality. This SNP is in a gene desert of chromosome 20p12. Five genes are within 2.0 mbp of rs2207418 but with low LD between their SNPs and rs2207418. A region near this SNP is highly conserved in multiple vertebrates (lod score = 1,208). This conservation and the internal consistency across studies suggests that this region has biologic importance in heart failure, potentially acting as an enhancer or repressor element. rs2207418 may be useful for predicting a more progressive form of heart failure that may require aggressive therapy.

Indexed as

Founder EffectGenetic Predisposition to DiseaseAdultAgedAged, 80 and overBase SequenceCardiomegalyCohort StudiesDemographyEthnicityFemaleHeart FailureHeart VentriclesHumansMaleMiddle Aged

Identifiers

PMID21348951
PMCPMC4373555
OpenAlexW2121630812

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.