ArticleCell2018
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.
Article in Cell, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 92 papers, 3 of them syntheses that pooled 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.
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.
Who cites it
92 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Genes, Gene Loci, and Their Impacts on the Immune System in the Development of Multiple Sclerosis: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.Molecular psychiatry · 2021Pooled it
- Mendelian randomization study shows no causal effects of serum urate levels on the risk of MS.Neurology(R) neuroimmunology & neuroinflammation · 2021Pooled it
- Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease.Neurology. Genetics · 2026Article
- Genetic Risk in Multiple Sclerosis: Susceptibility, Modifiers and Unresolved Questions.Neurology and therapy · 2026Review
- Integrating Genetics and Environment to Find Causal Mechanisms for Multiple Sclerosis.European journal of immunology · 2026Review
- Why Is MS a More Frequent Complication of EBV Infection in Females?Immunological reviews · 2026Review
- Genetic Prognostic Factors in Multiple Sclerosis: Key Discoveries and Unmet Needs.International journal of molecular sciences · 2026Review
- Exome-Wide Analysis Identifies a RareKidney international reports · 2026Article
- Multiple sclerosis and autoimmunity: a reappraisal of the evidence.Frontiers in immunology · 2026Review
- A Study on the Association of Ccrl2 Atypical Chemokine Receptor Polymorphism with the Disease Progression of Multiple Sclerosis in Turkish Patients: Insights From a Negative Study.Noro psikiyatri arsivi · 2026Article
- Article
- Differential results of genetic risk scoring for multiple sclerosis in European and African American populations.Multiple sclerosis (Houndmills, Basingstoke, England) · 2025Article
- Association of Epistatic Effects of lncRNA GAS5, miR-146a, IRAK-1, and miR-155 Genetic Variants with Multiple Sclerosis Risk and Severity.Molecular neurobiology · 2025Article
- Early establishment and life course stability of sex biases in the human brain transcriptome.Cell genomics · 2025Article
- Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.Scientific reports · 2025Article
- Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families.Scientific reports · 2025Article
- Thyroid function and multiple sclerosis: a two-sample mendelian randomization study and mediation analysis.Scientific reports · 2025Article
- Linking Pathogenesis to Fall Risk in Multiple Sclerosis.Archives of internal medicine research · 2025Article
- Association between 25(OH) vitamin D and multiple sclerosis: cohort, shared genetics, and Causality.Nutrition journal · 2024Observational
32 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
2 authors.
Funding
Abstract
Multiple sclerosis is a complex neurological disease, with ∼20% of risk heritability attributable to common genetic variants, including >230 identified by genome-wide association studies. Multiple strands of evidence suggest that much of the remaining heritability is also due to additive effects of common variants rather than epistasis between these variants or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that up to 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independently of common-variant signals, highlighting key pathogenic roles for regulatory T cell homeostasis and regulation, IFNγ biology, and NFκB signaling. As low-frequency variants do not show substantial linkage disequilibrium with other variants, and as coding variants are more interpretable and experimentally tractable than non-coding variation, our discoveries constitute a rich resource for dissecting the pathobiology of MS.
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Registered trials
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.