Evidence map›Paper›PMID 36622581›Full record

ArticleJournal of cardiovascular translational research2023

Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers.

Esteban A Lopera-Maya, Shuang Li, Remco de Brouwer, Ilja M Nolte, Justin van Breen, Netherlands A. C. M./P. L. N. Registry, Lifelines Cohort Study, Jan D H Jongbloed, Morris A Swertz, Harold Snieder and 6 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of cardiovascular translational research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. 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

16 authors at 1 institution in 2 countries.

Esteban A Lopera-MayaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.ORCID 0000-0001-5862-3938
Shuang LiDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Remco de BrouwerDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Ilja M NolteDepartment of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Justin van BreenDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Netherlands A. C. M./P. L. N. Registry
Lifelines Cohort Study
Jan D H JongbloedDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Morris A SwertzDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Harold SniederDepartment of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Lude FrankeDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Cisca WijmengaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Rudolf A de BoerDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Patrick DeelenDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.ORCID 0000-0002-5654-3966
Paul A van der ZwaagDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands. p.a.van.der.zwaag@umcg.nl.
Serena SannaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands. serena.sanna@irgb.cnr.it.ORCID 0000-0002-3768-1749
University Medical Center Groningen · NL

Funding

European Research Council ERC-671274European Research Council ERC CoG 818715
6 · The paper itself

Abstract

The c.40_42delAGA variant in the phospholamban gene (PLN) has been associated with dilated and arrhythmogenic cardiomyopathy, with up to 70% of carriers experiencing a major cardiac event by age 70. However, there are carriers who remain asymptomatic at older ages. To understand the mechanisms behind this incomplete penetrance, we evaluated potential phenotypic and genetic modifiers in 74 PLN:c.40_42delAGA carriers identified in 36,339 participants of the Lifelines population cohort. Asymptomatic carriers (N = 48) showed shorter QRS duration (- 5.73 ms, q value = 0.001) compared to asymptomatic non-carriers, an effect we could replicate in two different independent cohorts. Furthermore, symptomatic carriers showed a higher correlation (r

Indexed as

CardiomyopathiesAgedCalcium-Binding ProteinsGenotypeHumansMutationPhospholambanCalcium-Binding ProteinsPhospholambanCardiomyopathyGenome-wide association studyIncomplete penetranceModifiers of Mendelian disordersPolygenic score

Identifiers

PMID36622581
PMCPMC10721704
OpenAlexW4313857592

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.