Evidence map›Paper›PMID 21897447›Full record

ArticleEuropean journal of human genetics : EJHG2012

Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders.

Rebekah E McWhirter, Ruth McQuillan, Elizabeth Visser, Carl Counsell, James F Wilson

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.8field-weighted citation impact, top 26% 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

8 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
  2. Article
  3. Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  4. Article
  5. Article
  6. Article
  7. Patterns of homozygosity in insular and continental goat breeds.Genetics, selection, evolution : GSE · 2018
    Article
  8. Review
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

5 authors at 2 institutions in 1 country.

Rebekah E McWhirterCentre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
Ruth McQuillan
Elizabeth Visser
Carl Counsell
James F Wilson
University of Edinburgh · GBUniversity of Aberdeen · GB

Funding

Chief Scientist Office CZB/4/710Multiple Sclerosis Society 862
6 · The paper itself

Abstract

There is strong evidence for both genetic and environmental risk factors comprising the aetiology of multiple sclerosis (MS). While much progress has been made in recent years in identifying common genetic variants using genome-wide association studies, alternative approaches have remained relatively neglected. The prevalence of MS in Orkney and Shetland is among the highest in the world. Previous studies have suggested that a higher degree of parental relatedness in these isolated communities may contribute to the high rates of MS, indicating that recessive effects have an important role in MS aetiology. The Northern Isles Multiple Sclerosis (NIMS) study investigated the potential role of genome-wide homozygosity in MS risk by genotyping 88 MS patients, 89 controls matched by age, sex and ancestry, and a further 89 controls matched for sex and ancestry, but passed the majority of lifetime risk of developing MS (>70 years of age). Three participants were removed on the basis of pedigree-genomic anomalies (n=263). Three measures of genome-wide homozygosity were generated for each individual, and association with MS was assessed using logistic regression models. No effect of genome-wide homozygosity was detected, indicating that inbreeding and consanguinity are not risk factors for MS in this population.

Indexed as

Genome-Wide Association StudyHomozygoteAdolescentAdultAgedAge of OnsetChildFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMultiple SclerosisRisk FactorsScotlandYoung Adult

Identifiers

PMID21897447
PMCPMC3260926
OpenAlexW2118279872

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.