Evidence map›Paper›PMID 20007504›Full record

ArticleHuman molecular genetics2010

Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.

International Multiple Sclerosis Genetics Consortium (IMSGC)

Abstract read
In one paragraph

Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 4 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

61 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
  6. Review
  7. Review
  8. Article
  9. Kinesins in Mammalian Spermatogenesis and Germ Cell Transport.Frontiers in cell and developmental biology · 2022
    Review
  10. The conserved autoimmune-disease risk geneProceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  11. Article
  12. Article
  13. Article
  14. Genetic variants ofAmerican journal of cancer research · 2020
    Article
  15. Article
  16. TMEM39A and Human Diseases: A Brief Review.Toxicological research · 2017
    Review
  17. Review
  18. Article
  19. Article
  20. Preliminary Study on the Role of TMEM39A Gene in Multiple Sclerosis.Journal of molecular neuroscience : MN · 2017
    Article

1 more citing papers are in PubMed but not listed here.

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

1 author.

International Multiple Sclerosis Genetics Consortium (IMSGC)

Funding

A Haplotype Map for Multiple SclerosisR01NS049477 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HAUSER, STEPHEN L · 2005 to 2014
$15.3M
The Genetic Epemiology of Multiple SclerosisR01NS032830 · NINDS · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 1995 to 2010
$8.9M
Exploration of the Genetic Basis of Multiple SclerosisK08NS046341 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI DE JAGER, PHILIP L · 2003 to 2007
$876k
Medical Research Council G0000934Medical Research Council MC_QA137934NINDS NIH HHS K08 NS046341NINDS NIH HHS NS46341NINDS NIH HHS R01 NS032830NINDS NIH HHS R01 NS049477NINDS NIH HHS R01NS049477NINDS NIH HHS R01NS32830Wellcome Trust 068545/Z/02Wellcome Trust 084702Wellcome Trust (084702/Z/08/Z
6 · The paper itself

Abstract

Genome-wide association studies (GWASs) have proven highly effective, identifying hundreds of associations across numerous complex diseases. These studies typically test hundreds of thousands of variations and identify hundreds of potential associations. However, to date, follow-up attempts have generally only concentrated on just the few most significant initial associations, leaving the majority of true associations in any GWAS study without replication. Here, we present a substantially more comprehensive follow-up of the first genome-wide association screen performed in multiple sclerosis (MS), a complex genetic disease with central nervous system inflammation. We genotyped approximately 30 000 single-nucleotide polymorphisms (SNPs) that demonstrated mild-to-moderate levels of significance (P < or = 0.10) in the initial GWAS in an independent set of 1343 MS cases and 1379 controls. We further replicated several of the most significant findings in another independent data set of 2164 MS cases and 2016 controls. We find considerable evidence for a number of novel susceptibility loci including KIF21B [rs12122721, combined P = 6.56 x 10(-10), odds ratio (OR) = 1.22] and TMEM39A (rs1132200, P = 3.09 x 10(-8), OR = 1.24), both of which meet genome-wide significance. Both of these loci were overlooked in the initial replication, despite being among the top 3000 ( approximately 1%) SNP hits in the original screen.

Indexed as

Genome, HumanCase-Control StudiesDisease SusceptibilityFollow-Up StudiesGenome-Wide Association StudyGenotypeHumansKinesinsMembrane ProteinsMultiple SclerosisPolymorphism, Single NucleotideKIF21B protein, humanKinesinsMembrane ProteinsTMEM39A protein, human

Identifiers

PMID20007504
PMCPMC2816610

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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.