Evidence map›Paper›PMID 36232761›Full record

ArticleInternational journal of molecular sciences2022

Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis.

Julia Horjus, Tineke van Mourik-Banda, Marco A P Heerings, Marina Hakobjan, Ward De Witte, Dorothea J Heersema, Anne J Jansen, Eva M M Strijbis, Brigit A de Jong, Astrid E J Slettenaar and 7 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 31% 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, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
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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

17 authors at 9 institutions in 2 countries.

Julia HorjusDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Tineke van Mourik-BandaDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Marco A P HeeringsDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0002-9914-042X
Marina HakobjanDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Ward De WitteDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Dorothea J HeersemaDepartment of Neurology, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands.
Anne J JansenDepartment of Neurology, Bravis Hospital, 4708 AE Bergen op Zoom, The Netherlands.
Eva M M StrijbisDepartment of Neurology, Amsterdam UMC, location VUmc, 1081 HV Amsterdam, The Netherlands.ORCID 0000-0001-6705-5864
Brigit A de JongDepartment of Neurology, MS Center Amsterdam, Amsterdam UMC, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands.
Astrid E J SlettenaarDepartment of Neurology, Medisch Spectrum Twente, 7512 KZ Enschede, The Netherlands.
Esther M P E ZeinstraDepartment of Neurology, Isala Hospital, 7943 KC Meppel, The Netherlands.
Erwin L J HoogervorstDepartment of Neurology, St. Antoniusziekenhuis, 3435 CM Nieuwegein, The Netherlands.
Barbara FrankeDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Wiebe KruijerIndependent Life Science Consultant, 3831 CE Leusden, The Netherlands.
Peter J JongenMS4 Research Institute, 6522 KJ Nijmegen, The Netherlands.ORCID 0000-0002-9202-6309
Leo J VisserDepartment of Neurology, St. Elisabeth-Tweesteden Hospital, 5022 GC Tilburg, The Netherlands.
Geert PoelmansDepartment of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Radboud University Nijmegen · NLUniversity Medical Center Groningen · NLAmsterdam Neuroscience · NLAmsterdam University Medical Centers · NLBravis Ziekenhuis · NLIsala · NLMedisch Spectrum Twente · NLSt. Antonius Ziekenhuis · NLUniversity of Humanistic Studies · NL

Funding

National MS Foundation, The Netherlands
6 · The paper itself

Abstract

Multiple sclerosis (MS) is a degenerative disease of the central nervous system in which auto-immunity-induced demyelination occurs. MS is thought to be caused by a complex interplay of environmental and genetic risk factors. While most genetic studies have focused on identifying common genetic variants for MS through genome-wide association studies, the objective of the present study was to identify rare genetic variants contributing to MS susceptibility. We used whole exome sequencing (WES) followed by co-segregation analyses in nine multi-incident families with two to four affected individuals. WES was performed in 31 family members with and without MS. After applying a suite of selection criteria, co-segregation analyses for a number of rare variants selected from the WES results were performed, adding 24 family members. This approach resulted in 12 exonic rare variants that showed acceptable co-segregation with MS within the nine families, implicating the genes

Indexed as

Genome-Wide Association StudyMultiple SclerosisExome SequencingFamilyGenetic Predisposition to DiseaseHumansIntracellular Signaling Peptides and ProteinsPedigreeIntracellular Signaling Peptides and ProteinsTRIM66 protein, humangeneticsmultiple sclerosis (MS)whole exome sequencing

Identifiers

PMID36232761
PMCPMC9570223
OpenAlexW4297478125

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.