Evidence map›Paper›PMID 22948769›Full record

ArticleGenome research2012

Copy number variation leads to considerable diversity for B but not A haplotypes of the human KIR genes encoding NK cell receptors.

Wei Jiang, Chris Johnson, Jyothi Jayaraman, Nikol Simecek, Janelle Noble, Miriam F Moffatt, William O Cookson, John Trowsdale, James A Traherne

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
114citing papers in PubMed, 1 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

114 citing papers in PubMed, 1 synthesis or guideline pooled it, 186 citations in OpenAlex.

  1. Guideline
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  11. DonorFrontiers in immunology · 2024
    Article
  12. OMIP-098: A 26 parameter, 24 color flow cytometry panel for human memory NK cell phenotyping.Cytometry. Part A : the journal of the International Society for Analytical Cytology · 2023
    Article
  13. Article
  14. Review
  15. Article
  16. High population frequencies ofFrontiers in immunology · 2023
    Article
  17. Review
  18. Article
  19. Article
  20. Article

54 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

9 authors at 3 institutions in 2 countries.

Wei JiangDivision of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, United Kingdom.
Chris Johnson
Jyothi Jayaraman
Nikol Simecek
Janelle Noble
Miriam F Moffatt
William O Cookson
John Trowsdale
James A Traherne
University of Cambridge · GBImperial College London · GBOaklands Hospital · GB

Funding

Medical Research Council G0901682Medical Research Council G9800943Wellcome Trust 079895/Z/06/ZWellcome Trust 097117
6 · The paper itself

Abstract

The KIR complex appears to be evolving rapidly in humans, and more than 50 different haplotypes have been described, ranging from four to 14 KIR loci. Previously it has been suggested that most KIR haplotypes consist of framework genes, present in all individuals, which bracket a variable number of other genes. We used a new technique to type 793 families from the United Kingdom and United States for both the presence/absence of all individual KIR genes as well as copy number and found that KIR haplotypes are even more complex. It is striking that all KIR loci are subject to copy number variation (CNV), including the so-called framework genes, but CNV is much more frequent in KIR B haplotypes than KIR A haplotypes. These two basic KIR haplotype groups, A and B, appear to be following different evolutionary trajectories. Despite the great diversity, there are 11 common haplotypes, derived by reciprocal recombination near KIR2DL4, which collectively account for 94% of KIR haplotypes determined in Caucasian samples. These haplotypes could be derived from combinations of just three centromeic and two telomeric motifs, simplifying disease analysis for these haplotypes. The remaining 6% of haplotypes displayed novel examples of expansion and contraction of numbers of loci. Conventional KIR typing misses much of this additional complexity, with important implications for studying the genetics of disease association with KIR that can now be explored by CNV analysis.

Indexed as

DNA Copy Number VariationsGenetic VariationHaplotypesAllelesGene FrequencyGene FusionGene OrderHumansReceptors, KIRRecombination, GeneticReceptors, KIR

Identifiers

PMID22948769
PMCPMC3460180
OpenAlexW2153989399

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.