Evidence map›Paper›PMID 30908504›Full record

Trial reportPloS one2019

Dissecting the association of autophagy-related genes with cardiovascular diseases and intermediate vascular traits: A population-based approach.

Eliana Portilla-Fernandez, Mohsen Ghanbari, Joyce B J van Meurs, A H Jan Danser, Oscar H Franco, Taulant Muka, Anton Roks, Abbas Dehghan

Open access · goldAbstract readClinical Trial
In one paragraph

Trial report in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 2 pooled it
1.8field-weighted citation impact, top 15% 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

13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.

  1. Accelerated epigenetic age in hypertension: a systematic review and meta-analysis.Hypertension research : official journal of the Japanese Society of Hypertension · 2026
    Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Review
  6. Review
  7. Review
  8. Article
  9. Moments in autophagy and disease: Past and present.Molecular aspects of medicine · 2021
    Review
  10. Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.International journal of molecular sciences · 2020
    Review
  11. Aging · 2020
    Article
  12. Review
  13. 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

8 authors at 3 institutions in 3 countries.

Eliana Portilla-FernandezDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0003-4105-8586
Mohsen GhanbariDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Joyce B J van MeursDepartment of Internal Medicine, Division of Vascular Medicine and Pharmacology, Erasmus University Medical Center, Rotterdam, The Netherlands.
A H Jan DanserDepartment of Internal Medicine, Division of Vascular Medicine and Pharmacology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Oscar H FrancoInstitute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Taulant MukaDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Anton RoksDepartment of Internal Medicine, Division of Vascular Medicine and Pharmacology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Abbas DehghanDepartment of Epidemiology and Biostatistics, Imperial College London, London, England.ORCID 0000-0001-6403-016X
Erasmus MC · NLImperial College London · GBUniversity of Bern · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autophagy is involved in cellular homeostasis and maintenance and may play a role in cardiometabolic health. We aimed to elucidate the role of autophagy in cardiometabolic traits by investigating genetic variants and DNA methylation in autophagy-related genes in relation to cardiovascular diseases and related traits. To address this research question, we implemented a multidirectional approach using several molecular epidemiology tools, including genetic association analysis with genome wide association studies data and exome sequencing data and differential DNA methylation analysis. We investigated the 21 autophagy-related genes in relation to coronary artery disease and a number of cardiometabolic traits (blood lipids, blood pressure, glycemic traits, type 2 diabetes). We used data from the largest genome wide association studies as well as DNA methylation and exome sequencing data from the Rotterdam Study. Single-nucleotide polymorphism rs110389913 in AMBRA1 (p-value = 4.9×10-18) was associated with blood proinsulin levels, whereas rs6587988 in ATG4C and rs10439163 in ATG4D with lipid traits (ATG4C: p-value = 2.5×10-15 for total cholesterol and p-value = 3.1×10-18 for triglycerides, ATG4D: p-value = 9.9×10-12 for LDL and p-value = 1.3×10-10 for total cholesterol). Moreover, rs7635838 in ATG7 was associated with HDL (p-value = 1.9×10-9). Rs2447607 located in ATG7 showed association with systolic blood pressure and pulse pressure. Rs2424994 in MAP1LC3A was associated with coronary artery disease (p-value = 5.8×10-6). Furthermore, we identified association of an exonic variant located in ATG3 with diastolic blood pressure (p-value = 6.75×10-6). Using DNA methylation data, two CpGs located in ULK1 (p-values = 4.5×10-7 and 1×10-6) and two located in ATG4B (2×10-13 and 1.48×10-7) were significantly associated with both systolic and diastolic blood pressure. In addition one CpG in ATG4D was associated with HDL (p-value = 3.21×10-5). Our findings provide support for the role of autophagy in glucose and lipid metabolism, as well as blood pressure regulation.

Indexed as

AutophagyPolymorphism, Single NucleotideQuantitative Trait, HeritableAdaptor Proteins, Signal TransducingAutophagy-Related Protein-1 HomologAutophagy-Related Protein 7Autophagy-Related ProteinsCoronary Artery DiseaseCpG IslandsCysteine EndopeptidasesDNA MethylationExome SequencingFemaleGenome-Wide Association StudyHumansIntracellular Signaling Peptides and ProteinsAdaptor Proteins, Signal TransducingAMBRA1 protein, humanATG4A protein, humanATG4B protein, humanATG4D protein, humanATG7 protein, humanAutophagy-Related Protein-1 HomologAutophagy-Related Protein 7Autophagy-Related ProteinsCysteine EndopeptidasesIntracellular Signaling Peptides and ProteinsMAP1LC3A protein, humanMicrotubule-Associated ProteinsULK1 protein, human

Identifiers

PMID30908504
PMCPMC6433264
OpenAlexW2979205798

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.