Evidence map›Paper›PMID 21566222›Full record

ReviewCirculation research2011

Strategic approaches to unraveling genetic causes of cardiovascular diseases.

A J Marian, John Belmont

Abstract readReview
In one paragraph

Review in Circulation research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

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

  1. Guideline
  2. Pooled it
  3. Article
  4. Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins.Methodist DeBakey cardiovascular journal · 2026
    Review
  5. Article
  6. Article
  7. Review
  8. Journal of the American Heart Association · 2021
    Article
  9. Article
  10. Epigenetics and Heart Failure.International journal of molecular sciences · 2020
    Review
  11. Clinical Interpretation and Management of Genetic Variants.JACC. Basic to translational science · 2020
    Review
  12. Do we need diagnostic strategies enhanced with genetic information for ischemic heart disease?Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology · 2019
    Article
  13. Article
  14. Artificial Intelligence for Cardiac Imaging-Genetics Research.Frontiers in cardiovascular medicine · 2019
    Review
  15. Article
  16. Genetic Testing in Cardiovascular Medicine.Texas Heart Institute journal · 2018
    Review
  17. Review
  18. Article
  19. Article
  20. Review
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

2 authors.

A J MarianCenter for Cardiovascular Genetics, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Sciences Center, 6770 Bertner Street, Suite C900A, Houston, TX 77030, USA. Ali.J.Marian@uth.tmc.edu
John Belmont

Funding

Canonical Wnt Signaling in Pathogenesis and Rescue of ARVC PhenotypeR01HL088498 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MARIAN, ALI J · 2008 to 2017
$3.4M
Genome Wide Association Study for Hypoplastic Left Heart and Related DefectsR01HL090506 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BELMONT, JOHN WILLIAM · 2008 to 2011
$3.0M
Novel Genomic Disorders Causing Cardiovascular MalformationsR01HL091771 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BELMONT, JOHN WILLIAM · 2008 to 2011
$1.5M
Mouse Models of Non-Syndromic Cardiac ProgeriaR21AG038597 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MARIAN, ALI J · 2011 to 2012
$338k
NHLBI NIH HHS R01 HL088498NHLBI NIH HHS R01 HL090506NHLBI NIH HHS R01 HL091771NIA NIH HHS R21 AG038597NIA NIH HHS R21AG038597PHS HHS R01-088498
6 · The paper itself

Abstract

DNA sequence variants are major components of the "causal field" for virtually all medical phenotypes, whether single gene familial disorders or complex traits without a clear familial aggregation. The causal variants in single gene disorders are necessary and sufficient to impart large effects. In contrast, complex traits are attributable to a much more complicated network of contributory components that in aggregate increase the probability of disease. The conventional approach to identification of the causal variants for single gene disorders is genetic linkage. However, it does not offer sufficient resolution to map the causal genes in small families or sporadic cases. The approach to genetic studies of complex traits entails candidate gene or genome-wide association studies. Genome-wide association studies provide an unbiased survey of the effects of common genetic variants (common disease-common variant hypothesis). Genome-wide association studies have led to identification of a large number of alleles for various cardiovascular diseases. However, common alleles account for a relatively small fraction of the total heritability of the traits. Accordingly, the focus has shifted toward identification of rare variants that might impart larger effect sizes (rare variant-common disease hypothesis). This shift is made feasible by recent advances in massively parallel DNA sequencing platforms, which afford the opportunity to identify virtually all common as well as rare alleles in individuals. In this review, we discuss various strategies that are used to delineate the genetic contribution to medically important cardiovascular phenotypes, emphasizing the utility of the new deep sequencing approaches.

Indexed as

AnimalsCardiovascular DiseasesGenetic TechniquesGenetic VariationGenome-Wide Association StudyGerm-Line MutationHumans

Identifiers

PMID21566222
PMCPMC3115927

What OpenQuestion holds

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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.