Evidence map›Paper›PMID 21326317›Full record

ArticleGenes and immunity2011

Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.

S L Musone, K E Taylor, J Nititham, C Chu, A Poon, W Liao, E T Lam, A Ma, P-Y Kwok, L A Criswell

Open access · greenAbstract read
In one paragraph

Article in Genes and immunity, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
66citing papers in PubMed, 3 pooled it
5.8field-weighted citation impact, top 3% 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

66 citing papers in PubMed, 3 syntheses or guidelines pooled it, 113 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Associations between TNFAIP3 gene polymorphisms and rheumatoid arthritis: a meta-analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2012
    Pooled it
  4. Trial
  5. Article
  6. Review
  7. Aberrant Enhancer Regulation, Phase Separation, and Autoimmune Diseases.Clinical reviews in allergy & immunology · 2025
    Review
  8. Review
  9. Review
  10. CRISPR-Cas9 editing ofFrontiers in genome editing · 2025
    Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. International journal of general medicine · 2024
    Article
  16. A Model of iPSC-Derived Macrophages withInternational journal of molecular sciences · 2023
    Article
  17. Review
  18. Article
  19. Review
  20. Article

6 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

10 authors at 1 institution in 1 country.

S L MusoneCardiovascular Research Institute and Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
K E Taylor
J Nititham
C Chu
A Poon
W Liao
E T Lam
A Ma
P-Y Kwok
L A Criswell
University of California, San Francisco · US

Funding

The Interplay of Sociodemographic and Genetic Factors in SLE Health DisparitiesP60AR053308 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KATZ, PATRICIA P · 2006 to 2016
$11.8M
Research Resource for Genetics of Families/Mult.Autoimmune-95386N01AI095386 · NIAID · NORTH SHORE UNIVERSITY HOSPITAL · 1999 to 2005
$1.1M
Genetic Analysis of the TNF Pathway in PsoriasisK08AR057763 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LIAO, WILSON · 2010 to 2014
$599k
The Genetic Epidemiology of RA and SLEK24AR002175 · NIAMS · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI CRISWELL, LINDSEY ANN · 2001 to 2005
$555k
NIAID NIH HHS N01 AI095386NIAID NIH HHS N01 AI95386NIAMS NIH HHS K08 AR057763NIAMS NIH HHS K24 AR002175NIAMS NIH HHS K24 AR02175NIAMS NIH HHS P60 AR053308
6 · The paper itself

Abstract

The TNFAIP3 locus at 6q23, encoding A20, has been associated with multiple autoimmune diseases (AIDs). In this study, we sequence the coding portions of the gene to identify contributing causal polymorphisms that may explain some of the observed associations. A collection of 123 individuals from the Multiple Autoimmune Disease Genetics Consortium (MADGC) collection, each with multiple AIDs (mean=2.2 confirmed diagnoses), and 397 unrelated healthy controls were used for initial sequencing. A total of 32 polymorphisms were identified in the sequencing experiments, including 16 novel and 11 coding variants. Association testing in the entire MADGC collection (1,008 Caucasians with one or more AIDs and 770 unaffected family controls) revealed association of a novel intronic insertion-deletion polymorphism with rheumatoid arthritis (RA) (odds ratio (OR)=2.48, P=0.041). Genotyping of the most common coding polymorphism, rs2230926, in the MADGC collection and additional control individuals revealed a significant association with Sjögren's syndrome (OR=3.38, P=0.038), Crohn's disease (OR=2.25, P=0.041), psoriasis (OR=0.037, P=0.036) and RA (OR=1.9, P=0.025). Finally, haplotype and additional testing of polymorphisms revealed that cases were enriched for 5' and 3' untranslated region variants (one-sided P-value=0.04), but not specifically for common (>2% minor allele frequency), rare, exonic, intronic, non-synonymous or synonymous variants.

Indexed as

AllelesAutoimmune DiseasesBase SequenceDNA-Binding ProteinsGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansIntracellular Signaling Peptides and ProteinsNuclear ProteinsPolymorphism, Single NucleotideTumor Necrosis Factor alpha-Induced Protein 3DNA-Binding ProteinsIntracellular Signaling Peptides and ProteinsNuclear ProteinsTNFAIP3 protein, humanTumor Necrosis Factor alpha-Induced Protein 3

Identifiers

PMID21326317
PMCPMC3152744
OpenAlexW2075363094

What OpenQuestion holds

Textmetadata
LicenceTDM
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.