Evidence map›Paper›PMID 24308945›Full record

ArticleJournal of neuroimmunology2014

Analysis of CYP27B1 in multiple sclerosis.

Jay P Ross, Cecily Q Bernales, Joshua D Lee, A Dessa Sadovnick, Anthony L Traboulsee, Carles Vilariño-Güell

Open access · greenAbstract read
In one paragraph

Article in Journal of neuroimmunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
1.7field-weighted citation impact, top 17% 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, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.

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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

6 authors at 1 institution in 1 country.

Jay P RossDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Cecily Q BernalesDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Joshua D LeeDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
A Dessa SadovnickDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada; Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
Anthony L TraboulseeDivision of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
Carles Vilariño-GüellDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada. Electronic address: carles@can.ubc.ca.
University of British Columbia · CA

Funding

CIHR 126949-1
6 · The paper itself

Abstract

The analysis of genetic variability in CYP27B1 and its effect on risk of multiple sclerosis (MS) has yielded conflicting results. Here we describe a study to genetically characterize CYP27B1 and elucidate its role on MS risk in the Canadian population. Sequencing CYP27B1 failed to identify mutations known to cause loss of enzymatic activity, however genotyping of p.R389H in cases and controls identified the mutation in one multi-incident family (allele frequency=0.03%) in which the p.R389H mutation segregates with disease in five family members diagnosed with MS, thus providing additional support for CYP27B1 p.R389H in the pathogenicity of MS.

Indexed as

Genetic Predisposition to Disease25-Hydroxyvitamin D3 1-alpha-HydroxylaseAdultFamily HealthFemaleGene FrequencyGenetic Association StudiesGenotypeHumansMaleMiddle AgedMultiple SclerosisMutationRetrospective Studies25-Hydroxyvitamin D3 1-alpha-HydroxylaseCYP27B1LinkageMultiple sclerosisMutation

Identifiers

PMID24308945
PMCPMC5092161
OpenAlexW2004737328

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.