Evidence map›Paper›PMID 29782370›Full record

ArticleJournal of cardiovascular medicine (Hagerstown, Md.)2018

A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy.

Cristina Mazzaccara, Giuseppe Limongelli, Mario Petretta, Rossella Vastarella, Giuseppe Pacileo, Domenico Bonaduce, Francesco Salvatore, Giulia Frisso

Open access · hybridAbstract read
In one paragraph

Article in Journal of cardiovascular medicine (Hagerstown, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 10% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

  1. Revisiting Secondary Dilative Cardiomyopathy.International journal of molecular sciences · 2025
    Pooled it
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  4. International journal of molecular sciences · 2022
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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

8 authors at 3 institutions in 2 countries.

Cristina MazzaccaraCEINGE-Biotecnologie Avanzate s.c.a r.l.
Giuseppe LimongelliDipartimento di Scienze Cardiotoraciche e Respiratorie, Università degli Studi della Campania 'Luigi Vanvitelli', A.O. Monaldi, Azienda dei Colli.
Mario PetrettaDipartimento di Scienze Mediche Traslazionali, Università di Napoli 'Federico II'.
Rossella VastarellaDipartimento di Scienze Cardiotoraciche e Respiratorie, Università degli Studi della Campania 'Luigi Vanvitelli', A.O. Monaldi, Azienda dei Colli.
Giuseppe PacileoDipartimento di Scienze Cardiotoraciche e Respiratorie, Università degli Studi della Campania 'Luigi Vanvitelli', A.O. Monaldi, Azienda dei Colli.
Domenico BonaduceDipartimento di Scienze Mediche Traslazionali, Università di Napoli 'Federico II'.
Francesco SalvatoreCEINGE-Biotecnologie Avanzate s.c.a r.l.
Giulia FrissoCEINGE-Biotecnologie Avanzate s.c.a r.l.
University of Naples Federico II · ITAzienda Ospedaliera Universitaria Università degli Studi della Campania Luigi Vanvitelli · ITCeinge Biotecnologie Avanzate (Italy) · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimsSCN5A is a disease-causing gene associated with familial dilated cardiomyopathy (FDC). We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R; rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence.

methodsWe genotyped 185 DCM cases (familial DCM, idiopathic DCM and postischemic DCM) and 251 controls for the p.H558R polymorphism in the SCN5A gene, to test the association of the molecular epidemiology of the individuals with the presence/absence of various types of DCM.

resultsOur results showed that the rs1805124 polymorphism was significantly associated with DCM, and the association was more significant in patients with FDC; furthermore, in these individuals, the less frequent GG genotype was associated with a 7.39-fold increased risk of disease [95% confidence interval (95% CI) = 2.88-18.96; P < 0.0001] compared with the AA genotype. Moreover, logistic regression analysis showed that GG carriers had a higher risk of DCM than AA + AG carriers (odds ratio = 5.45, 95% CI = 2.23-13.35; P < 0.001). No association was observed between the rs1805124 and DCM risk in postischemic DCM patients.

conclusionOur study demonstrates an association between familial DCM and the rs1805124 polymorphism in the SCN5A gene, which may unravel additional genetic predisposition to the development of a multifactorial disease as DCM.

Indexed as

AdultCardiomyopathy, DilatedCase-Control StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseHumansMaleMiddle AgedNAV1.5 Voltage-Gated Sodium ChannelPolymorphism, Single NucleotideNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, human

Identifiers

PMID29782370
PMCPMC6012048
OpenAlexW2804075675

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.