Evidence map›Paper›PMID 40438528›Full record

ArticleMultiple sclerosis journal - experimental, translational and clinical

Allele-specific vitamin D receptor binding is associated with pediatric-onset multiple sclerosis.

Defne Yilmaz, Cameron Adams, Mary K Horton, Jennifer S Graves, Carla Francisco, Alice Edwards, Hong Quach, Diana Quach, Gregory Aaen, Timothy Lotze and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Multiple sclerosis journal - experimental, translational and clinical. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

26 authors.

Defne YilmazDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA; Center for Computational Biology, College of Computing, Data Science and Society, University of California, Berkeley, CA, USA.ORCID https://orcid.org/0009-0009-0083-4797
Cameron AdamsDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA; Center for Computational Biology, College of Computing, Data Science and Society, University of California, Berkeley, CA, USA.
Mary K HortonDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA; Center for Computational Biology, College of Computing, Data Science and Society, University of California, Berkeley, CA, USA.
Jennifer S GravesDepartment of Neurosciences, School of Medicine, University of California, San Diego, CA, USA.
Carla FranciscoDepartment of Neurology, University of California, San Francisco, CA, USA.
Alice EdwardsDepartment of Neurology, University of California, San Francisco, CA, USA.ORCID https://orcid.org/0000-0003-0843-7947
Hong QuachDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA; Center for Computational Biology, College of Computing, Data Science and Society, University of California, Berkeley, CA, USA.
Diana QuachDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA; Center for Computational Biology, College of Computing, Data Science and Society, University of California, Berkeley, CA, USA.
Gregory AaenPediatric MS Center, Loma Linda University Children's Hospital, Loma Linda, CA, USA.
Timothy LotzeTexas Children's Hospital, Houston, TX, USA.
Soe MarPediatric-onset Demyelinating Diseases and Autoimmune Encephalitis Center, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA.
Jayne NessUAB Center for Pediatric Onset Demyelinating Disease, Children's of Alabama, Birmingham, AL, USA.
Yolanda WheelerUAB Center for Pediatric Onset Demyelinating Disease, Children's of Alabama, Birmingham, AL, USA.
Mark P GormanDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Leslie BensonDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.ORCID https://orcid.org/0000-0002-1680-4834
Bianca Weinstock-GuttmanPediatric Multiple Sclerosis Center, Jacobs Neurological Institute, SUNY Buffalo, NY, USA.ORCID https://orcid.org/0000-0001-6732-151X
Amy WaldmanDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Teri SchreinerDepartments of Neurology and Pediatrics, University of Colorado, Aurora, CO, USA.ORCID https://orcid.org/0000-0002-3816-812X
Jan-Mendelt TillemaMayo Clinic's Pediatric Multiple Sclerosis Center, Rochester, MN, USA.
Tanuja ChitnisMass General Brigham Pediatric Multiple Sclerosis Center, Massachusetts General Hospital for Children, Boston, MA, USA.
John RoseDepartment of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
T Charles CasperDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Mary RenselMellen Center, Cleveland Clinic, OH, USA.ORCID https://orcid.org/0000-0001-9613-8394
Emmanuelle WaubantDepartment of Neurology, University of California, San Francisco, CA, USA.
Lisa F BarcellosDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA; Center for Computational Biology, College of Computing, Data Science and Society, University of California, Berkeley, CA, USA.
Network of Pediatric Multiple Sclerosis Centers

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: The genetic basis of adult-onset multiple sclerosis (MS) is well-studied, but less is known about pediatric-onset MS (pedMS), comprising approximately 5% of all MS onsets. Mendelian randomization (MR) studies have demonstrated evidence for a causal association between MS and both 25-hydroxyvitamin D [25(OH)D] serum levels and genetic variation related to vitamin D receptor (VDR) binding. The objective was to identify whether VDR binding variants (VDR-BVs) previously implicated in adult-onset MS were associated with pedMS using genetic instrumental variables (GIVs). Methods: Using previously identified VDR-BVs to construct individual GIVs with two-sample MR, we investigated associations with pedMS in 725 cases and 592 controls of European ancestry from the US Network of Pediatric MS Centers. Associations between each VDR-BV and pedMS were estimated using logistic regression adjusting for the first three genome-wide principal components. A significant interaction between a VDR-BV and 25(OH)D GIV provided evidence for a causal association unbiased by pleiotropy. Results: One VDR-BV, rs2531804, previously associated with adult-onset MS, was also significantly associated with pedMS after multiple testing correction. Discussion: This study is the first to use VDR-BVs from previous MR studies to demonstrate causal differences in VDR binding at a locus contributing to pedMS susceptibility.

Indexed as

genetic epidemiologyMendelian randomizationmultiple sclerosis pathogenesisPediatric multiple sclerosisstatistical genetics

Identifiers

PMID40438528
PMCPMC12117238

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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.