Evidence map›Paper›PMID 25995659›Full record

ReviewThe Korean journal of internal medicine2015

Clinical implications of copy number variations in autoimmune disorders.

Seon-Hee Yim, Seung-Hyun Jung, Boram Chung, Yeun-Jun Chung

Open access · goldAbstract readReview
In one paragraph

Review in The Korean journal of internal medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 16% 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

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

  1. Association between FCGR3B copy number variations and susceptibility to autoimmune diseases: a meta-analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2015
    Pooled it
  2. Review
  3. Review
  4. Article
  5. A cross-comparison of cognitive ability across 8 genomic disorders.Current opinion in genetics & development · 2021
    Review
  6. Review
  7. Review
  8. Article
  9. Article
  10. 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

4 authors at 1 institution in 1 country.

Seon-Hee YimDepartment of Medical Education, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Seung-Hyun JungIntegrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul, Korea. ; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Boram ChungIntegrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul, Korea. ; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Yeun-Jun ChungIntegrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul, Korea. ; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Catholic University of Korea · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Human genetic variation is represented by the genetic differences both within and among populations, and most genetic variants do not cause overt diseases but contribute to disease susceptibility and influence drug response. During the last century, various genetic variants, such as copy number variations (CNVs), have been associated with diverse human disorders. Here, we review studies on the associations between CNVs and autoimmune diseases to gain some insight. First, some CNV loci are commonly implicated in various autoimmune diseases, such as Fcγ receptors in patients with systemic lupus erythemoatosus or idiopathic thrombocytopenic purpura and β-defensin genes in patients with psoriasis or Crohn's disease. This means that when a CNV locus is associated with a particular autoimmune disease, we should examine its potential associations with other diseases. Second, interpopulation or interethnic differences in the effects of CNVs on phenotypes exist, including disease susceptibility, and evidence suggests that CNVs are important to understand susceptibility to and pathogenesis of autoimmune diseases. However, many findings need to be replicated in independent populations and different ethnic groups. The validity and reliability of detecting CNVs will improve quickly as genotyping technology advances, which will support the required replication.

Indexed as

DNA Copy Number VariationsGene DosageAnimalsAutoimmune DiseasesAutoimmunityGenetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseHumansPhenotypePopulation GroupsRisk FactorsGenetic MarkersAssociationAutoimmunityCopy number variationGenetic variationGenomewide

Identifiers

PMID25995659
PMCPMC4438283
OpenAlexW2156977655

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.