ArticleNeuron2016
Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.
Article in Neuron, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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
14 citing papers in PubMed.
- Genetic Risk in Multiple Sclerosis: Susceptibility, Modifiers and Unresolved Questions.Neurology and therapy · 2026Review
- Search for a genetic cause of variably protease-sensitive prionopathy.PLoS pathogens · 2025Article
- Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.Nature genetics · 2024Review
- Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis.International journal of molecular sciences · 2022Article
- Expanding ACMG variant classification guidelines into a general framework.Human genomics · 2022Article
- Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?International journal of molecular sciences · 2019Review
- Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family.Multiple sclerosis (Houndmills, Basingstoke, England) · 2019Article
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- Article
- Genetics of Multiple Sclerosis: An Overview and New Directions.Cold Spring Harbor perspectives in medicine · 2018Review
- Highly Efficient, Rapid and Co-CRISPR-Independent Genome Editing inG3 (Bethesda, Md.) · 2017Article
- Using high-resolution variant frequencies to empower clinical genome interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Settling the score: variant prioritization and Mendelian disease.Nature reviews. Genetics · 2017Review
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
It has recently been reported that an NR1H3 missense variant, R415Q, causes a novel familial form of multiple sclerosis (Wang et al., 2016a). This claim is at odds with publicly available data from the Exome Aggregation Consortium (ExAC; http://exac.broadinstitute.org). The allele frequency of R415Q is not significantly higher in cases (0.024%-0.049%) than in ExAC population controls (0.031%), whereas if R415Q conferred even 50% lifetime risk of developing MS, it would be hundreds of times more common in cases than in controls. The upper bound of the 95% confidence interval of penetrance for R415Q can be estimated at 2.2% for women and 1.2% for men, indicating that even if this variant is disease associated, individuals harboring the variant would have a lifetime risk of developing MS no higher than a few percent. ExAC data should be considered when evaluating claims of variant pathogenicity. This Matters Arising paper is in response to Wang et al. (2016a), published in Neuron. See also the related Matters Arising paper by The International Multiple Sclerosis Genetics Consortium (2016) and the response by Wang et al. (2016b), published in this issue.
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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.