Evidence map›Paper›PMID 19951419›Full record

ArticleBMC medical genetics2009

Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.

Edward J Carr, Heather A Niederer, Julie Williams, Lorraine Harper, Richard A Watts, Paul A Lyons, Kenneth G C Smith

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 4 pooled it
2.4field-weighted citation impact, top 11% 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

47 citing papers in PubMed, 4 syntheses or guidelines pooled it, 96 citations in OpenAlex.

  1. Pooled it
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  13. Hypothyroidism in vasculitis.Rheumatology (Oxford, England) · 2022
    Article
  14. Offense and Defense in Granulomatous Inflammation Disease.Frontiers in cellular and infection microbiology · 2022
    Review
  15. Review
  16. Review
  17. ANCA-Associated Vasculitis: An Update.Journal of clinical medicine · 2021
    Review
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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

7 authors at 4 institutions in 1 country.

Edward J CarrCambridge Institute for Medical Research, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB20XY, UK.
Heather A Niederer
Julie Williams
Lorraine Harper
Richard A Watts
Paul A Lyons
Kenneth G C Smith
University of Cambridge · GBUniversity of Birmingham · GBAddenbrooke's Hospital · GBUniversity of East Anglia · GB

Funding

Medical Research Council G0000934Medical Research Council G0400929Wellcome Trust 079895Wellcome Trust 083650/Z/07/Z
6 · The paper itself

Abstract

backgroundThe genetic contribution to the aetiology of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is not well defined. Across different autoimmune diseases some genes with immunomodulatory roles, such as PTPN22, are frequently associated with multiple diseases, whereas specific HLA associations, such as HLA-B27, tend to be disease restricted. We studied ten candidate loci on the basis of their immunoregulatory role and prior associations with type 1 diabetes (T1D). These included PTPN22, CTLA4 and CD226, which have previously been associated with AAV.

methodsWe genotyped the following 11 SNPs, from 10 loci, in 641 AAV patients using TaqMan genotyping: rs2476601 in PTPN22, rs1990760 in IFIH1, rs3087243 in CTLA4, rs2069763 in IL2, rs10877012 in CYP27B1, rs2292239 in ERBB3, rs3184504 in SH2B3, rs12708716 in CLEC16A, rs1893217 and rs478582 in PTPN2 and rs763361 in CD226. Where possible, we performed a meta-analysis with previous analyses.

resultsBoth CTLA4 rs3087243 and PTPN22 rs2476601 showed association with AAV, P = 6.4 x 10-3 and P = 1.4 x 10-4 respectively. The minor allele (A) of CTLA4 rs3087243 is protective (odds ratio = 0.84), whereas the minor allele (A) of PTPN22 rs2476601 confers susceptibility (odds ratio = 1.40). These results confirmed previously described associations with AAV. After meta-analysis, the PTPN22 rs2476601 association was further strengthened (combined P = 4.2 x 10-7, odds ratio of 1.48 for the A allele). The other 9 SNPs, including rs763361 in CD226, showed no association with AAV.

conclusionOur study of T1D associated SNPs in AAV has confirmed CTLA4 and PTPN22 as susceptibility loci in AAV. These genes encode two key regulators of the immune response and are associated with many autoimmune diseases, including T1D, autoimmune thyroid disease, celiac disease, rheumatoid arthritis, and now AAV.

Indexed as

Genetic Association StudiesAllelesAntibodies, Antineutrophil CytoplasmicAntigens, CDAnti-Neutrophil Cytoplasmic Antibody-Associated VasculitisCohort StudiesCTLA-4 AntigenGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansPolymorphism, Single NucleotideProtein Tyrosine Phosphatase, Non-Receptor Type 22Antibodies, Antineutrophil CytoplasmicAntigens, CDCTLA-4 AntigenCTLA4 protein, humanProtein Tyrosine Phosphatase, Non-Receptor Type 22PTPN22 protein, human

Identifiers

PMID19951419
PMCPMC3224698
OpenAlexW2008412322

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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.