Evidence map›Paper›PMID 23291587›Full record

SynthesisNature genetics2013

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.

Yohei Kirino, George Bertsias, Yoshiaki Ishigatsubo, Nobuhisa Mizuki, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Ozyazgan, F Sevgi Sacli, Burak Erer, Hidetoshi Inoko and 14 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 267 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
267citing papers in PubMed, 9 pooled it
40.6field-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.

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

267 citing papers in PubMed, 9 syntheses or guidelines pooled it, 552 citations in OpenAlex.

  1. Pooled it
  2. Behçet's Disease: A Comprehensive Review on the Role ofInternational journal of molecular sciences · 2023
    Pooled it
  3. Pooled it
  4. Associations betweenBioMed research international · 2021
    Pooled it
  5. Pooled it
  6. Pooled it
  7. Behҫet's Disease, and the Role of TNF-α and TNF-α Blockers.International journal of molecular sciences · 2020
    Pooled it
  8. Pooled it
  9. Pooled it
  10. Review
  11. Article
  12. Immunometabolic regulation and tissue-resident immunity in autoimmune uveitis: from genetic susceptibility to the gut-spleen-eye axis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026
    Review
  13. Exploring the Involvement ofLife (Basel, Switzerland) · 2026
    Review
  14. Review
  15. Article
  16. Article
  17. Review
  18. [Role of HLA genetic variants in autoimmune diseases].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026
    Review
  19. Article
  20. Article

207 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

24 authors at 6 institutions in 4 countries.

Yohei KirinoInflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.
George Bertsias
Yoshiaki Ishigatsubo
Nobuhisa Mizuki
Ilknur Tugal-Tutkun
Emire Seyahi
Yilmaz Ozyazgan
F Sevgi Sacli
Burak Erer
Hidetoshi Inoko
Zeliha Emrence
Atilla Cakar
Neslihan Abaci
Duran Ustek
Colleen Satorius
Atsuhisa Ueda
Mitsuhiro Takeno
Yoonhee Kim
Geryl M Wood
Michael J Ombrello
Akira Meguro
Ahmet Gül
Elaine F Remmers
Daniel L Kastner
Istanbul University · TRYokohama City University · JPNational Institutes of Health · USNational Human Genome Research Institute · USTokai University · JPUniversity of Crete · GR

Funding

Genetics, Natural History, and Pathophysiology of Behcet's DiseaseZIAHG200374 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2020
$10.5M
Intramural NIH HHS Z99 AR999999Intramural NIH HHS Z99 HG999999
6 · The paper itself

Abstract

Individuals with Behçet's disease suffer from episodic inflammation often affecting the orogenital mucosa, skin and eyes. To discover new susceptibility loci for Behçet's disease, we performed a genome-wide association study (GWAS) of 779,465 SNPs with imputed genotypes in 1,209 Turkish individuals with Behçet's disease and 1,278 controls. We identified new associations at CCR1, STAT4 and KLRC4. Additionally, two SNPs in ERAP1, encoding ERAP1 p.Asp575Asn and p.Arg725Gln alterations, recessively conferred disease risk. These findings were replicated in 1,468 independent Turkish and/or 1,352 Japanese samples (combined meta-analysis P < 2 × 10(-9)). We also found evidence for interaction between HLA-B*51 and ERAP1 (P = 9 × 10(-4)). The CCR1 and STAT4 variants were associated with gene expression differences. Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behçet's disease.

Indexed as

AminopeptidasesAnalysis of VarianceBehcet SyndromeEpistasis, GeneticGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHLA-B51 AntigenHumansJapanMinor Histocompatibility AntigensNK Cell Lectin-Like Receptor Subfamily CPolymorphism, Single NucleotideReceptors, CCR1STAT4 Transcription FactorAminopeptidasesCCR1 protein, humanERAP1 protein, humanHLA-B51 AntigenKLRC4 protein, humanMinor Histocompatibility AntigensNK Cell Lectin-Like Receptor Subfamily CReceptors, CCR1STAT4 protein, humanSTAT4 Transcription Factor

Identifiers

PMID23291587
PMCPMC3810947
OpenAlexW2093217973

What OpenQuestion holds

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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.