Evidence map›Paper›PMID 31482761›Full record

ArticlePhysiological genomics2019

Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

C Joy Shepard, Sara G Cline, David Hinds, Seyedehameneh Jahanbakhsh, Jeremy W Prokop

Open access · greenAbstract read
In one paragraph

Article in Physiological genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 35% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Sez6L2 autoimmunity induces cerebellar ataxia in mice.Journal of neuroinflammation · 2025
    Article
  4. Review
  5. Review
  6. Heat shock protein 70 gene polymorphisms in Iranian patients with Multiple sclerosis.American journal of clinical and experimental immunology · 2024
    Article
  7. Article
  8. Review
  9. Risk Factors from Pregnancy to Adulthood in Multiple Sclerosis Outcome.International journal of molecular sciences · 2022
    Review
  10. Article
  11. 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

5 authors at 3 institutions in 1 country.

C Joy ShepardDepartment of Biology, Athens State University, Athens, Alabama.
Sara G ClineDepartment of Biology, Athens State University, Athens, Alabama.
David HindsHudsonAlpha Institute for Biotechnology, Huntsville, Alabama.
Seyedehameneh JahanbakhshDepartment of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan.
Jeremy W ProkopDepartment of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan.
Athens State University · USMichigan State University · USHudsonAlpha Institute for Biotechnology · US

Funding

Using a Sequence-to-Structure-to-Function Approach to Functionally Characterize Protein Coding Missense Mutations in the Human and Rat GenomesK01ES025435 · NIEHS · MICHIGAN STATE UNIVERSITY · PI PROKOP, JEREMY WILLIAM · 2014 to 2018
$489k
NIEHS NIH HHS K01 ES025435
6 · The paper itself

Abstract

Genetics of multiple sclerosis (MS) are highly polygenic with few insights into mechanistic associations with pathology. In this study, we assessed MS genetics through linkage disequilibrium and missense variant interpretation to yield a MS gene network. This network of 96 genes was taken through pathway analysis, tissue expression profiles, single cell expression segregation, expression quantitative trait loci (eQTLs), genome annotations, transcription factor (TF) binding profiles, structural genome looping, and overlap with additional associated genetic traits. This work revealed immune system dysfunction, nerve cell myelination, energetic control, transcriptional regulation, and variants that overlap multiple autoimmune disorders. Tissue-specific expression and eQTLs of MS genes implicate multiple immune cell types including macrophages, neutrophils, and T cells, while the genes in neural cell types enrich for oligodendrocyte and myelin sheath biology. There are eQTLs in linkage with lead MS variants in 25 genes including the multitissue eQTL, rs9271640, for

Indexed as

Gene Regulatory NetworksLinkage DisequilibriumComputational BiologyGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMetabolic Networks and PathwaysMultiple SclerosisMutation, MissensePolymorphism, Single NucleotideQuantitative Trait LociTranscriptomedata integrationeQTLGWASmultiple sclerosisomics

Identifiers

PMID31482761
PMCPMC6879814
OpenAlexW2971747983

What OpenQuestion holds

Textmetadata
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.