Evidence map›Paper›PMID 23903824›Full record

ArticleGenes and immunity2013

Genetic burden in multiple sclerosis families.

N Isobe, V Damotte, V Lo Re, M Ban, D Pappas, L Guillot-Noel, I Rebeix, A Compston, T Mack, W Cozen and 5 more

Abstract read
In one paragraph

Article in Genes and immunity, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
–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

19 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Genetic predictors of relapse rate in pediatric MS.Multiple sclerosis (Houndmills, Basingstoke, England) · 2016
    Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Review
  17. Article
  18. Review
  19. Burden of genetic risk variants in multiple sclerosis families in the Netherlands.Multiple sclerosis journal - experimental, translational and clinical
    Article
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

15 authors.

N Isobe *Department of Neurology, University of California at San Francisco, San Francisco, CA, USA.
V Damotte *Department of Neurology, University of California at San Francisco, San Francisco, CA, USA.
V Lo Re *Department of Clinical Neurosciences, Addenbrooke's, Hospital, University of Cambridge, Cambridge, UK.
M BanDepartment of Clinical Neurosciences, Addenbrooke's, Hospital, University of Cambridge, Cambridge, UK.
D PappasDepartment of Neurology, University of California at San Francisco, San Francisco, CA, USA.
L Guillot-NoelUPMC-INSERM-CNRS-ICM, UMR 975-7225, Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France.
I RebeixUPMC-INSERM-CNRS-ICM, UMR 975-7225, Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France.
A CompstonDepartment of Clinical Neurosciences, Addenbrooke's, Hospital, University of Cambridge, Cambridge, UK.
T MackDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
W CozenDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
B FontaineUPMC-INSERM-CNRS-ICM, UMR 975-7225, Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France.
S L HauserDepartment of Neurology, University of California at San Francisco, San Francisco, CA, USA.
J R OksenbergDepartment of Neurology, University of California at San Francisco, San Francisco, CA, USA.
S SawcerDepartment of Clinical Neurosciences, Addenbrooke's, Hospital, University of Cambridge, Cambridge, UK.
P-A GourraudDepartment of Neurology, University of California at San Francisco, San Francisco, CA, USA.

Funding

GENE LINKAGE STUDY OF MULTIPLE SCLEROSIS SIBLING PAIRSR01NS026799 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HAUSER, STEPHEN L, OKSENBERG, JORGE R. · 1989 to 2018
$6.8M
DETERMINANTS OF MS WITHIN DISEASE-DISCORDANT TWINSR01NS019142 · NINDS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MACK, THOMAS MCCULLOCH · 1985 to 1986
–
NINDS NIH HHS R01 NS026799NINDS NIH HHS R01NS19142NINDS NIH HHS R01NS26799
6 · The paper itself

Abstract

A previous study using cumulative genetic risk estimations in multiple sclerosis (MS) successfully tracked the aggregation of susceptibility variants in multi-case and single-case families. It used a limited description of susceptibility loci available at the time (17 loci). Even though the full roster of MS risk genes remains unavailable, we estimated the genetic burden in MS families and assess its disease predictive power using up to 64 single-nucleotide polymorphism (SNP) markers according to the most recent literature. A total of 708 controls, 3251 MS patients and their relatives, as well as 117 twin pairs were genotyped. We validated the increased aggregation of genetic burden in multi-case compared with single-case families (P=4.14e-03) and confirm that these data offer little opportunity to accurately predict MS, even within sibships (area under receiver operating characteristic (AUROC)=0.59 (0.55, 0.53)). Our results also suggest that the primary progressive and relapsing-type forms of MS share a common genetic architecture (P=0.368; difference being limited to that corresponding to ± 2 typical MS-associated SNPs). We have confirmed the properties of individual genetic risk score in MS. Comparing with previous reference point for MS genetics (17 SNPs), we underlined the corrective consequences of the integration of the new findings from GWAS and meta-analysis.

Indexed as

Genetic LoadPedigreeAdultCase-Control StudiesFemaleGenetic LociGenetic Predisposition to DiseaseHumansMaleMiddle AgedMultiple SclerosisPolymorphism, Single Nucleotide

Identifiers

PMID23903824
PMCPMC4102601

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.