Evidence map›Paper›PMID 23840750›Full record

ArticlePloS one2013

Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans.

Sanne Vendelbosch, Martin de Boer, Remko A T W Gouw, Cynthia K Y Ho, Judy Geissler, Wendy T N Swelsen, Michael J Moorhouse, Neubury M Lardy, Dirk Roos, Timo K van den Berg and 1 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.9field-weighted citation impact, top 27% 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, 22 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Review
  6. Allele-LevelFrontiers in immunology · 2018
    Article
  7. Review
  8. Article
  9. Article
  10. 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

11 authors at 3 institutions in 2 countries.

Sanne VendelboschSanquin Research and Landsteiner Laboratory, Department of Blood Cell Research, Amsterdam, The Netherlands. s.vendelbosch@sanquin.nl
Martin de Boer
Remko A T W Gouw
Cynthia K Y Ho
Judy Geissler
Wendy T N Swelsen
Michael J Moorhouse
Neubury M Lardy
Dirk Roos
Timo K van den Berg
Taco W Kuijpers
Sanquin · NLUniversity of Amsterdam · NLBoston Children's Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Killer immunoglobulin-like receptors (KIRs) are involved in the regulation of natural killer cell cytotoxicity. Within the human genome seventeen KIR genes are present, which all contain a large number of allelic variants. The high level of homology among KIR genes has hampered KIR genotyping in larger cohorts, and determination of gene copy number variation (CNV) has been difficult. We have designed a multiplex ligation-dependent probe amplification (MLPA) technique for genotyping and CNV determination in one single assay and validated the results by next-generation sequencing and with a KIR gene-specific short tandem repeat assay. In this way, we demonstrate in a cohort of 120 individuals a high level of CNV for all KIR genes except for the framework genes KIR3DL3 and KIR3DL2. Application of our MLPA assay in segregation analyses of families from the Centre d'Etude du Polymorphisme Humaine, previously KIR-genotyped by classical techniques, confirmed an earlier reported duplication and resulted in the identification of a novel duplication event in one of these families. In summary, our KIR MLPA assay allows rapid and accurate KIR genotyping and CNV detection, thus rendering improved transplantation programs and oncology treatment feasible, and enables more detailed studies on the role of KIRs in human (auto)immunity and infectious disease.

Indexed as

DNA Copy Number VariationsGene DosageGenetic LociGenome, HumanGenotypeHumansMultiplex Polymerase Chain ReactionReceptors, KIRReceptors, KIR3DL2KIR3DL2 protein, humanKIR3DL3 protein, humanReceptors, KIRReceptors, KIR3DL2

Identifiers

PMID23840750
PMCPMC3695908
OpenAlexW2019681906

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.