Evidence map›Paper›PMID 38529491›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.

Mariana Correia Marques, Danielle Rubin, Emily Shuldiner, Mallika Datta, Elizabeth Schmitz, Gustavo Gutierrez Cruz, Andrew Patt, Elizabeth Bennett, Alexei Grom, Dirk Foell and 13 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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, 11 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors at 13 institutions in 8 countries.

Mariana Correia MarquesTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.ORCID 0000-0002-1195-1595
Danielle RubinTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Emily ShuldinerTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Mallika DattaTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Elizabeth SchmitzTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Gustavo Gutierrez CruzGenomic Technology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Andrew PattTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Elizabeth BennettTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Alexei GromRheumatology, Cincinnati Children`s Hospital Medical Center, Cincinnati, USA.
Dirk FoellDepartment of Pediatric Rheumatology and Immunology, University Hospital Muenster, Muenster, Germany.
Marco GattornoUnit Rheumatology and Autoinflammatory Diseases, IRCCS Istituto G. Gaslini, Genoa, Italy.
John BohnsackDepartment of Pediatrics, University of Utah Eccles School of Medicine, Salt Lake City, USA.
Rae S M YeungThe Hospital for Sick Children, University of Toronto, Toronto, Canada.
Sampath PrahaladEmory University school of Medicine, Atlanta, USA.
Elizabeth MellinsDepartment of Pediatrics, Program in Immunology, Stanford University, Stanford, USA.ORCID 0000-0003-2577-139X
Jordi AntonHospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Claudio Arnaldo LenSão Paulo Federal University, São Paulo, Brazil.
Sheila OliveiraFederal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Patricia WooUniversity College London, London, UK.
Seza OzenDepartment of Pediatrics, Hacettepe University, Ankara, Turkey.
INCHARGE Consortium
Zuoming DengBiodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
Michael J OmbrelloTranslational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA.
National Institute of Arthritis and Musculoskeletal and Skin Diseases · USCincinnati Children's Hospital Medical Center · USEmory University · USHacettepe University · TRHospital Sant Joan de Déu Barcelona · ESIstituto Giannina Gaslini · ITStanford University · USUniversidade Federal de São Paulo · BRUniversidade Federal do Rio de Janeiro · BRUniversity College London · GBUniversity Hospital Münster · DEUniversity of Toronto · CAUniversity of Utah · US

Funding

NHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005I
6 · The paper itself

Abstract

Objective: To evaluate whether there is an enrichment of rare variants in familial hemophagocytic lymphohistiocytosis (HLH) genes and systemic juvenile idiopathic arthritis (sJIA) with or without macrophage activation syndrome (MAS). Methods: Targeted sequencing of HLH genes ( Results: Sequencing data from 524 sJIA cases were jointly called and harmonized with exome-derived target data from 3000 controls. Quality control operations produced a set of 481 cases and 2924 ancestrally-matched control subjects. RVT of sJIA cases and controls revealed a significant association with rare protein-altering variants (minor allele frequency [MAF]<0.01) of Conclusion: We identified an enrichment of rare HLH variants in sJIA patients compared with healthy controls, driven by

Identifiers

PMID38529491
PMCPMC10962746
OpenAlexW4392862857

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.