Evidence map›Paper›PMID 37388819›Full record

ArticleNAR genomics and bioinformatics2023

Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels.

Gaëlle Munsch, Carole Proust, Sylvie Labrouche-Colomer, Dylan Aïssi, Anne Boland, Pierre-Emmanuel Morange, Anne Roche, Luc de Chaisemartin, Annie Harroche, Robert Olaso and 6 more

Abstract read
In one paragraph

Article in NAR genomics and bioinformatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
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.

Gaëlle MunschUniv. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR 1219, F-33000 Bordeaux, France.ORCID https://orcid.org/0000-0003-1564-9825
Carole ProustUniv. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR 1219, F-33000 Bordeaux, France.
Sylvie Labrouche-ColomerUMR1034, Inserm, Biology of Cardiovascular Diseases, University of Bordeaux, Pessac, France.
Dylan AïssiUniv. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR 1219, F-33000 Bordeaux, France.
Anne BolandUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057 Evry, France.
Pierre-Emmanuel MorangeCardiovascular and Nutrition Research Center (C2VN), INSERM, INRAE, Aix-Marseille University, Marseille, France.
Anne RocheService pneumologie hôpital Bicêtre, France.
Luc de ChaisemartinService Auto-immunité, Hypersensibilité et Biothérapies, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID https://orcid.org/0000-0001-8973-1536
Annie HarrocheService d'Hématologie Clinique Centre de Traitement de l'Hémophilie Hôpital Necker Enfants Malades, France.
Robert OlasoUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057 Evry, France.
Jean-François DeleuzeUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057 Evry, France.ORCID https://orcid.org/0000-0002-5358-4463
Chloé JamesUMR1034, Inserm, Biology of Cardiovascular Diseases, University of Bordeaux, Pessac, France.
Joseph EmmerichDepartment of vascular medicine, Paris Saint-Joseph Hospital Group, University of Paris, UMR1153, INSERM, CRESS, 185 rue Raymond Losserand, Cité, 75674, France.
David M SmadjaInnovative Therapies in Hemostasis, Université de Paris, INSERM, F-75006 Paris, France.
Hélène Jacqmin-GaddaUniv. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR 1219, F-33000 Bordeaux, France.
David-Alexandre TrégouëtUniv. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR 1219, F-33000 Bordeaux, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Over the last years, there has been a considerable expansion of genome-wide association studies (GWAS) for discovering biological pathways underlying pathological conditions or disease biomarkers. These GWAS are often limited to binary or quantitative traits analyzed through linear or logistic models, respectively. In some situations, the distribution of the outcome may require more complex modeling, such as when the outcome exhibits a semicontinuous distribution characterized by an excess of zero values followed by a non-negative and right-skewed distribution. We here investigate three different modeling for semicontinuous data: Tobit, Negative Binomial and Compound Poisson-Gamma. Using both simulated data and a real GWAS on Neutrophil Extracellular Traps (NETs), an emerging biomarker in immuno-thrombosis, we demonstrate that Compound Poisson-Gamma was the most robust model with respect to low allele frequencies and outliers. This model further identified the MIR155HG locus as significantly (

Identifiers

PMID37388819
PMCPMC10304785

What OpenQuestion holds

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Registered trials

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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.