Evidence map›Paper›PMID 20522537›Full record

ArticleAmerican journal of epidemiology2010

Variation within DNA repair pathway genes and risk of multiple sclerosis.

Farren B S Briggs, Benjamin A Goldstein, Jacob L McCauley, Rebecca L Zuvich, Philip L De Jager, John D Rioux, Adrian J Ivinson, Alastair Compston, David A Hafler, Stephen L Hauser and 6 more

Open access · bronzeAbstract readMulticenter Study
In one paragraph

Article in American journal of epidemiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 13% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Article
  7. Article
  8. Article
  9. Mining Complex Genetic Patterns Conferring Multiple Sclerosis Risk.International journal of environmental research and public health · 2021
    Article
  10. Review
  11. Article
  12. Review
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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

16 authors at 1 institution in 1 country.

Farren B S BriggsUniversity of California, Berkeley, 94720, USA.
Benjamin A Goldstein
Jacob L McCauley
Rebecca L Zuvich
Philip L De Jager
John D Rioux
Adrian J Ivinson
Alastair Compston
David A Hafler
Stephen L Hauser
Jorge R Oksenberg
Stephen J Sawcer
Margaret A Pericak-Vance
Jonathan L Haines
Lisa F Barcellos
International Multiple Sclerosis Genetics Consortium
University of California, Berkeley · US

Funding

Medical Research Council G0700061
6 · The paper itself

Abstract

Multiple sclerosis (MS) is a complex autoimmune disease of the central nervous system with a prominent genetic component. The primary genetic risk factor is the human leukocyte antigen (HLA)-DRB1*1501 allele; however, much of the remaining genetic contribution to MS has not been elucidated. The authors investigated the relation between variation in DNA repair pathway genes and risk of MS. Single-locus association testing, epistatic tests of interactions, logistic regression modeling, and nonparametric Random Forests analyses were performed by using genotypes from 1,343 MS cases and 1,379 healthy controls of European ancestry. A total of 485 single nucleotide polymorphisms within 72 genes related to DNA repair pathways were investigated, including base excision repair, nucleotide excision repair, and double-strand breaks repair. A single nucleotide polymorphism variant within the general transcription factor IIH, polypeptide 4 gene, GTF2H4, on chromosome 6p21.33 was significantly associated with MS (odds ratio = 0.7, P = 3.5 x 10(-5)) after accounting for multiple testing and was not due to linkage disequilibrium with HLA-DRB1*1501. Although other candidate genes examined here warrant further follow-up studies, collectively, these results derived from a well-powered study do not support a strong role for common variation within DNA repair pathway genes in MS.

Indexed as

DNA RepairGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMultiple SclerosisPolymorphism, Single NucleotideWhite People

Identifiers

PMID20522537
PMCPMC3658128
OpenAlexW2150640653

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.