Evidence map›Paper›PMID 27764667›Full record

ArticleNeuron2016

NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk.

International Multiple Sclerosis Genetics Consortium. Electronic address: cotsapas@broadinstitute.org, International Multiple Sclerosis Genetics Consortium

Erratum issuedAbstract read
In one paragraph

Article in Neuron, 2016. 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 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Frontiers in genetics · 2019
    Article
  11. Review
  12. Article
  13. Genetics of Multiple Sclerosis: An Overview and New Directions.Cold Spring Harbor perspectives in medicine · 2018
    Review
  14. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

International Multiple Sclerosis Genetics Consortium. Electronic address: cotsapas@broadinstitute.org
International Multiple Sclerosis Genetics Consortium

Funding

A Haplotype Map for Multiple SclerosisR01NS049477 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HAUSER, STEPHEN L · 2005 to 2014
$15.3M
Post GWAS approach to identify cell-specific genetic pathways underlying MS riskR01NS088155 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BARANZINI, SERGIO E · 2014 to 2018
$2.2M
NINDS NIH HHS R01 NS049477NINDS NIH HHS R01 NS088155
6 · The paper itself

Abstract

A recent study by Wang et al. (2016a) claims that the low-frequency variant NR1H3 p.Arg415Gln is sufficient to cause multiple sclerosis in certain individuals and determines a patient's likelihood of primary progressive disease. We sought to replicate this finding in the International MS Genetics Consortium (IMSGC) patient collection, which is 13-fold larger than the collection of Wang et al. (2016a), but we find no evidence that this variant is associated with either MS or disease subtype. Wang et al. (2016a) also report a common variant association in the region, which we show captures the association the IMSGC reported in 2013. Therefore, we conclude that the reported low-frequency association is a false positive, likely generated by insufficient sample size. The claim of NR1H3 mutations describing a Mendelian form of MS-of which no examples exist-can therefore not be substantiated by data. This Matters Arising paper is in response to Wang et al. (2016a), published in Neuron. See also the related Matters Arising paper by Minikel and MacArthur (2016) and the response by Wang et al. (2016b), published in this issue.

Indexed as

Polymorphism, Single NucleotideHumansMultiple SclerosisMutationRisk

Identifiers

PMID27764667
PMCPMC5641967

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.