Evidence map›Paper›PMID 28326637›Full record

ArticleHuman mutation2017

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

A Dessa Sadovnick, Ben J Gu, Anthony L Traboulsee, Cecily Q Bernales, Mary Encarnacion, Irene M Yee, Maria G Criscuoli, Xin Huang, Amber Ou, Carol J Milligan and 3 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
4.6field-weighted citation impact, top 5% 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

31 citing papers in PubMed, 58 citations in OpenAlex.

  1. Review
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  13. P2XFrontiers in cellular neuroscience · 2021
    Review
  14. Review
  15. Review
  16. Article
  17. Article
  18. Article
  19. The P2X7 Receptor: Central Hub of Brain Diseases.Frontiers in molecular neuroscience · 2020
    Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 2 countries.

A Dessa SadovnickDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Ben J GuFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
Anthony L TraboulseeDivision of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
Cecily Q BernalesDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Mary EncarnacionDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Irene M YeeDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Maria G CriscuoliDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Xin HuangFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
Amber OuFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
Carol J MilliganFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
Steven PetrouFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
James S WileyFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
Carles Vilariño-GüellDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
University of British Columbia · CAFlorey Institute of Neuroscience and Mental Health · AUThe University of Melbourne · AU

Funding

CIHR 126949-1CIHR 137051-1Medical Research Council G1100125
6 · The paper itself

Abstract

Genetic variants in the purinergic receptors P2RX4 and P2RX7 have been shown to affect susceptibility to multiple sclerosis (MS). In this study, we set out to evaluate whether rare coding variants of major effect could also be identified in these purinergic receptors. Sequencing analysis of P2RX4 and P2RX7 in 193 MS patients and 100 controls led to the identification of a rare three variant haplotype (P2RX7 rs140915863:C>T [p.T205M], P2RX7 rs201921967:A>G [p.N361S], and P2RX4 rs765866317:G>A [p.G135S]) segregating with disease in a multi-incident family with six family members diagnosed with MS (logarithm of odds = 3.07). Functional analysis of this haplotype in HEK293 cells revealed impaired P2X7 surface expression (P < 0.01), resulting in over 95% inhibition of adenosine triphosphate (ATP)-induced pore function (P < 0.001) and a marked reduction in phagocytic ability (P < 0.05). In addition, transfected cells showed 40% increased peak ATP-induced inward current (P < 0.01), and a greater Ca

Indexed as

Genetic Predisposition to DiseaseFemaleHaplotypesHEK293 CellsHumansMaleMultiple SclerosisPolymorphism, Single NucleotideReceptors, Purinergic P2X4Receptors, Purinergic P2X7P2RX4 protein, humanP2RX7 protein, humanReceptors, Purinergic P2X4Receptors, Purinergic P2X7familial, Mendelian, multiple sclerosismutationP2RX4, P2RX7, P2X4, P2X7, variant

Identifiers

PMID28326637
PMCPMC5429140
OpenAlexW2601880045

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.