Evidence map›Paper›PMID 24951767›Full record

ReviewCirculation research2014

The genetics of pulmonary arterial hypertension.

Eric D Austin, James E Loyd

Open access · bronzeAbstract readReview
In one paragraph

Review in Circulation research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
107citing papers in PubMed, 1 pooled it
13.5field-weighted citation impact, top 1% 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

107 citing papers in PubMed, 1 synthesis or guideline pooled it, 183 citations in OpenAlex.

  1. Pooled it
  2. Clinical Updates in Pulmonary Hypertension.Reviews in cardiovascular medicine · 2026
    Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review
  9. Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Review
  19. Article
  20. Article

47 more citing papers are in PubMed but not listed here.

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 at 1 institution in 1 country.

Eric D AustinFrom the Division of Allergy, Pulmonary, and Immunology Medicine, Department of Pediatrics (E.D.A.) and Division of Allergy, Pulmonary, and Critical Care Medicine, Department of Medicine (J.E.L.), Vanderbilt University School of Medicine, Vanderbilt University Medical Center, Vanderbilt University, Nashville, TN. eric.austin@vanderbilt.edu.
James E LoydFrom the Division of Allergy, Pulmonary, and Immunology Medicine, Department of Pediatrics (E.D.A.) and Division of Allergy, Pulmonary, and Critical Care Medicine, Department of Medicine (J.E.L.), Vanderbilt University School of Medicine, Vanderbilt University Medical Center, Vanderbilt University, Nashville, TN.
Vanderbilt University Medical Center · US

Funding

Sex Hormones in Pulmonary Arterial HypertensionP01HL108800 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LOYD, JAMES E · 2012 to 2021
$22.0M
THE MOLECULAR BASIS OF FAMILIAL AND SPORADIC PPHP01HL072058 · NHLBI · VANDERBILT UNIVERSITY · PI FOROUD, TATIANA M · 2003 to 2007
$10.2M
Caveolar Defects Underlie the Genetic Origins of PAHR01HL111259 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI KENWORTHY, ANNE K, LOYD, JAMES E · 2012 to 2016
$3.5M
Variations in estrogen exposures may modify pulmonary arterial hypertensionK23HL098743 · NHLBI · VANDERBILT UNIVERSITY · PI AUSTIN, ERIC DOUGLAS · 2010 to 2014
$652k
NHLBI NIH HHS K23 HL 098743NHLBI NIH HHS K23 HL098743NHLBI NIH HHS P01 HL 072058NHLBI NIH HHS P01 HL072058NHLBI NIH HHS P01 HL108800NHLBI NIH HHS R01 HL 111259NHLBI NIH HHS R01 HL111259
6 · The paper itself

Abstract

Pulmonary arterial hypertension (PAH) is a progressive and fatal disease for which there is an ever-expanding body of genetic and related pathophysiological information on disease pathogenesis. Many germline gene mutations have now been described, including mutations in the gene coding bone morphogenic protein receptor type 2 (BMPR2) and related genes. Recent advanced gene-sequencing methods have facilitated the discovery of additional genes with mutations among those with and those without familial forms of PAH (CAV1, KCNK3, EIF2AK4). The reduced penetrance, variable expressivity, and female predominance of PAH suggest that genetic, genomic, and other factors modify disease expression. These multi-faceted variations are an active area of investigation in the field, including but not limited to common genetic variants and epigenetic processes, and may provide novel opportunities for pharmacological intervention in the near future. They also highlight the need for a systems-oriented multi-level approach to incorporate the multitude of biological variations now associated with PAH. Ultimately, an in-depth understanding of the genetic factors relevant to PAH provides the opportunity for improved patient and family counseling about this devastating disease.

Indexed as

AllelesAnimalsBone Morphogenetic Protein Receptors, Type IICaveolin 1Epigenesis, GeneticFamilial Primary Pulmonary HypertensionGenetic TestingGonadal Steroid HormonesHumansHypertension, PulmonaryMutationNerve Tissue ProteinsPotassium Channels, Tandem Pore DomainProtein PrecursorsProtein Serine-Threonine KinasesBone Morphogenetic Protein Receptors, Type IICAV1 protein, humanCaveolin 1Cbln2 protein, mouseEIF2AK4 protein, humanGonadal Steroid HormonesNerve Tissue ProteinsPotassium Channels, Tandem Pore Domainpotassium channel subfamily K member 3Protein PrecursorsProtein Serine-Threonine Kinasesbone morphogenetic protein receptor, type IIgeneticshypertensionpulmonary

Identifiers

PMID24951767
PMCPMC4137413
OpenAlexW2118452945

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.