Evidence map›Paper›PMID 20508037›Full record

ArticleHuman molecular genetics2010

Copy number, linkage disequilibrium and disease association in the FCGR locus.

Heather A Niederer, Lisa C Willcocks, Tim F Rayner, Wanling Yang, Yu Lung Lau, Thomas N Williams, J Anthony G Scott, Britta C Urban, Norbert Peshu, Sarah J Dunstan and 10 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06865274 (Multicenter Prospective Interventional Study to Evaluate the Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Myelin Oligodendrocyte Glycoprotein Antibody Disease, and Multiple Sclerosis.), which is not on this map. Cited by 69 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
69citing papers in PubMed, 3 pooled it
12.4field-weighted citation impact, top 1% 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.

NCT06865274 narecruitingnot on this mapstarted 2025, after this paper: background citation

Multicenter Prospective Interventional Study to Evaluate the Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Myelin Oligodendrocyte Glycoprotein Antibody Disease, and Multiple Sclerosis.

TypeinterventionalSponsorFondazione Policlinico Universitario Agostino Gemelli IRCCSRan2025 to 2027Enrolled50ConditionsNeuromyelitis Optica Spectrum Disorders, MOGAD, Multiple SclerosisArmsBlood draw for the laboratory assessment
3 · Its place in the literature

Who cites it

69 citing papers in PubMed, 3 syntheses or guidelines pooled it, 134 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. Pooled it
  3. Pooled it
  4. Genomic evidence for shared common ancestry of East African hunting-gathering populations and insights into local adaptation.Proceedings of the National Academy of Sciences of the United States of America · 2019
    Trial
  5. Trial
  6. Article
  7. Current issues in molecular biology · 2025
    Article
  8. Article
  9. Pitfalls When Determining HNA-1 Genotypes and Finding Novel Alleles.International journal of molecular sciences · 2024
    Article
  10. Structural polymorphism and diversity of human segmental duplications.bioRxiv : the preprint server for biology · 2024
    Article
  11. Review
  12. Article
  13. Frontiers in immunology · 2021
    Article
  14. Article
  15. An HIV Vaccine Protective Allele inFrontiers in immunology · 2021
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review

9 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

20 authors at 12 institutions in 7 countries.

Heather A NiedererDepartment of Medicine, Cambridge Institute for Medical Research, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0XY, UK.
Lisa C Willcocks
Tim F Rayner
Wanling Yang
Yu Lung Lau
Thomas N Williams
J Anthony G Scott
Britta C Urban
Norbert Peshu
Sarah J Dunstan
Tran Tinh Hien
Nguyen Hoan Phu
Leonid Padyukov
Iva Gunnarsson
Elisabet Svenungsson
Caroline O Savage
Richard A Watts
Paul A Lyons
David G Clayton
Kenneth G C Smith
University of Cambridge · GBKarolinska University Hospital · SEHospital for Tropical Diseases · VNKenya Medical Research Institute · KEAddenbrooke's Hospital · GBIndepth Network · GHNuffield Health · GBOxford University Clinical Research Unit · VNQueen Mary Hospital · CNUniversity of Birmingham · GBUniversity of East Anglia · GBUniversity of Hong Kong · HK

Funding

Wellcome Trust 061089Wellcome Trust 076934Wellcome Trust 079082Wellcome Trust 079895Wellcome Trust 081835Wellcome Trust 083650/Z/07/ZWellcome Trust 091758
6 · The paper itself

Abstract

The response of a leukocyte to immune complexes (ICs) is modulated by receptors for the Fc region of IgG (FcgammaRs), and alterations in their affinity or function have been associated with risk of autoimmune diseases, including systemic lupus erythematosus (SLE). The low-affinity FcgammaR genomic locus is complex, containing regions of copy number variation (CNV) which can alter receptor expression and leukocyte responses to IgG. Combined paralogue ratio tests (PRTs) were used to distinguish three intervals within the FCGR locus which undergo CNV, and to determine FCGR gene copy number (CN). There were significant differences in FCGR3B and FCGR3A CNV profiles between Caucasian, East Asian and Kenyan populations. A previously noted association of low FCGR3B CN with SLE in Caucasians was supported [OR = 1.57 (1.08-2.27), P = 0.018], and replicated in Chinese [OR = 1.65 (1.25-2.18), P = 4 x 10(-4)]. There was no association of FCGR3B CNV with vasculitis, nor with malarial or bacterial infection. Linkage disequilibrium (LD) between multi-allelic FCGR3B CNV and SLE-associated SNPs in the FCGR locus was defined for the first time. Despite LD between FCGR3B CNV and a variant in FcgammaRIIB (I232T) which abolishes inhibitory function, both reduced CN of FCGR3B and homozygosity of the FcgammaRIIB-232T allele were individually strongly associated with SLE risk. Thus CN of FCGR3B, which controls IC responses and uptake by neutrophils, and variations in FCGR2B, which controls factors such as antibody production and macrophage activation, are important in SLE pathogenesis. Further interpretations of contributions to pathogenesis by FcgammaRs must be made in the context of LD involving CNV regions.

Indexed as

Gene DosageLinkage DisequilibriumAllelesAsian PeopleBlack PeopleChinaChi-Square DistributionGene FrequencyGenetic Predisposition to DiseaseGenotypeGPI-Linked ProteinsHumansKenyaLupus Erythematosus, SystemicPolymorphism, Single NucleotideReceptors, IgGFCGR2B protein, humanFCGR3B protein, humanGPI-Linked ProteinsReceptors, IgG

Identifiers

PMID20508037
PMCPMC2908468
OpenAlexW2105692976

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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.