Evidence map›Paper›PMID 39424413›Full record

SynthesisJournal of the American Heart Association2024

Genome-Wide Search for Nonadditive Allele Effects Identifies

Blandine Gendre, Angel Martinez-Perez, Marcus E Kleber, Astrid van Hylckama Vlieg, Anne Boland, Robert Olaso, Marine Germain, Gaëlle Munsch, Angela Patricia Moissl, Pierre Suchon and 9 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Journal of the American Heart Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

19 authors.

Blandine GendreINSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France.ORCID 0009-0001-8417-4993
Angel Martinez-PerezUnit of Genomics of Complex Diseases, Institut de Recerca Sant Pau (IR SANT PAU) Barcelona Spain.ORCID 0000-0002-5934-1454
Marcus E KleberDepartment of Medicine V, Medical Faculty Mannheim University of Heidelberg Mannheim Germany.ORCID 0000-0003-0663-7275
Astrid van Hylckama VliegDepartment of Clinical Epidemiology Leiden University Medical Center Leiden Netherlands.ORCID 0000-0001-7386-1168
Anne BolandCEA, Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay Evry France.ORCID 0000-0001-8789-5676
Robert OlasoCEA, Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay Evry France.ORCID 0000-0001-7631-9657
Marine GermainINSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France.ORCID 0000-0002-8489-8916
Gaëlle MunschINSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France.ORCID 0000-0003-1564-9825
Angela Patricia MoisslDepartment of Medicine V, Medical Faculty Mannheim University of Heidelberg Mannheim Germany.ORCID 0000-0003-0302-2136
Pierre SuchonCardiovascular and Nutrition Research Center (C2VN), INSERM, INRAE, Aix-Marseille University Marseille France.ORCID 0000-0001-8845-9163
Juan Carlos SoutoCentre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Madrid Spain.ORCID 0000-0003-2092-5142
José Manuel SoriaUnit of Genomics of Complex Diseases, Institut de Recerca Sant Pau (IR SANT PAU) Barcelona Spain.ORCID 0000-0002-6226-4293
Jean-François DeleuzeCEA, Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay Evry France.ORCID 0000-0002-5358-4463
Winfried MärzDepartment of Medicine V, Medical Faculty Mannheim University of Heidelberg Mannheim Germany.ORCID 0000-0001-6083-8946
Frits R RosendaalDepartment of Clinical Epidemiology Leiden University Medical Center Leiden Netherlands.ORCID 0000-0003-2558-7496
Maria Sabater-LlealUnit of Genomics of Complex Diseases, Institut de Recerca Sant Pau (IR SANT PAU) Barcelona Spain.ORCID 0000-0002-0128-379X
Pierre-Emmanuel MorangeCardiovascular and Nutrition Research Center (C2VN), INSERM, INRAE, Aix-Marseille University Marseille France.ORCID 0000-0002-9065-722X
David-Alexandre TrégouëtINSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France.ORCID 0000-0001-9084-7800
CHARGE Hemostasis Working Group

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFactor V (FV) is a key molecular player in the coagulation cascade. FV plasma levels have been associated with several human diseases, including thrombosis, bleeding, and diabetic complications. So far, 2 genes have been robustly found through genome-wide association analyses to contribute to the inter-individual variability of plasma FV levels: structural F5 gene and PLXDC2. METHODS AND

resultsThe authors used the underestimated Brown-Forsythe methodology implemented in the QuickTest software to search for non-additive genetic effects that could contribute to the inter-individual variability of FV plasma activity. QUICKTEST was applied to 4 independent genome-wide association studies studies (LURIC [Ludwigshafen RIsk and Cardiovascular Health Study], MARTHA [Marseille Thrombosis Association], MEGA [Multiple Environmental and Genetic Assessment], and RETROVE [Riesgo de Enfermedad Tromboembolica Venosa]) totaling 4505 participants of European ancestry with measured FV plasma levels. Results obtained in the 4 cohorts were meta-analyzed using a fixed-effect model. Additional analyses involved exploring haplotype and gene×gene interactions in downstream investigations. A genome-wide significant signal at the

conclusionsThis comprehensive approach identifies the role of

Indexed as

Factor VGenome-Wide Association StudyAllelesHaplotypesHumansPhenotypePolymorphism, Single NucleotideFactor VBrown‐Forsythe testcoagulationfactor V plasma levelsnon‐additive genetic effectsparent‐of‐origin effects

Identifiers

PMID39424413
PMCPMC11935730

What OpenQuestion holds

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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.