Evidence map›Paper›PMID 23830517›Full record

ArticleAmerican journal of human genetics2013

Identification of multiple genetic susceptibility loci in Takayasu arteritis.

Güher Saruhan-Direskeneli, Travis Hughes, Kenan Aksu, Gokhan Keser, Patrick Coit, Sibel Z Aydin, Fatma Alibaz-Oner, Sevil Kamalı, Murat Inanc, Simon Carette and 34 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
71citing papers in PubMed, 6 pooled it
14.5field-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

71 citing papers in PubMed, 6 syntheses or guidelines pooled it, 173 citations in OpenAlex.

  1. Pooled it
  2. Cross-phenotype analysis of Immunochip data identifiesAnnals of the rheumatic diseases · 2018
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Article
  8. Biomarkers in Primary Systemic Vasculitides: Narrative Review.International journal of molecular sciences · 2026
    Review
  9. Review
  10. Review
  11. Article
  12. Review
  13. Observational
  14. LanDis: the disease landscape explorer.European journal of human genetics : EJHG · 2024
    Article
  15. Article
  16. Article
  17. Benign disorders of the mediastinum: a narrative review.Mediastinum (Hong Kong, China) · 2024
    Review
  18. Article
  19. Review
  20. Animal models for large vessel vasculitis - The unmet need.Rheumatology and immunology research · 2023
    Review

11 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

44 authors at 20 institutions in 3 countries.

Güher Saruhan-DireskeneliDepartment of Physiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.
Travis Hughes
Kenan Aksu
Gokhan Keser
Patrick Coit
Sibel Z Aydin
Fatma Alibaz-Oner
Sevil Kamalı
Murat Inanc
Simon Carette
Gary S Hoffman
Servet Akar
Fatos Onen
Nurullah Akkoc
Nader A Khalidi
Curry Koening
Omer Karadag
Sedat Kiraz
Carol A Langford
Carol A McAlear
Zeynep Ozbalkan
Askin Ates
Yasar Karaaslan
Kathleen Maksimowicz-McKinnon
Paul A Monach
Hüseyin T Ozer
Emire Seyahi
Izzet Fresko
Ayse Cefle
Philip Seo
Kenneth J Warrington
Mehmet A Ozturk
Steven R Ytterberg
Veli Cobankara
A Mesut Onat
Joel M Guthridge
Judith A James
Ercan Tunc
Nurşen Duzgun
Muge Bıcakcıgil
Sibel P Yentür
Peter A Merkel
Haner Direskeneli
Amr H Sawalha
Istanbul University · TRDokuz Eylül University · TRUniversity of Michigan · USAnkara University · TRCleveland Clinic · USEge University · TRHacettepe University · TRMarmara University · TRMayo Clinic in Arizona · USOklahoma Medical Research Foundation · USUniversity of Pennsylvania · USAnkara Numune Eğitim ve Araştırma Hastanesi · TRBoston University · USCukurova University · TRGaziantep University · TRGazi University · TRHenry Ford Health System · USHitit Üniversitesi · TRIstanbul Medeniyet University · TRJohns Hopkins University · US

Funding

Clinical and Translational Science Collaborative of ClevelandUL1TR000439 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI KONSTAN, MICHAEL W. · 2012 to 2016
$50.0M
VCRC-VF FellowshipU54AR057319 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MERKEL, PETER A · 2009 to 2020
$12.5M
SNP Confirmation and High Throughput Genotyping CoreP30AR053483 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GUTHRIDGE, JOEL MARVIN · 2007 to 2017
$6.7M
VASCULITIS CLINICAL RESEARCH NETWORK (VCRN): RARE DISEASEU54RR019497 · NCRR · BOSTON UNIVERSITY MEDICAL CAMPUS · PI MERKEL, PETER A · 2003 to 2008
$6.1M
Science in a Culture of MentoringP30GM103510 · NIGMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI JAMES, JUDITH A · 2012 to 2016
$3.9M
Vasculitis Outcome Measures: Development and ValidationU01AR051874 · NIAMS · JOHNS HOPKINS UNIVERSITY · PI MERKEL, PETER A · 2005 to 2006
$386k
NCATS NIH HHS UL1 TR000439NCRR NIH HHS U54 RR019497NIAID NIH HHS AI08714NIAID NIH HHS AI101914NIAMS NIH HHS AR053483NIAMS NIH HHS P30 AR053483NIAMS NIH HHS U01 AR051874NIAMS NIH HHS U01 AR51874 04NIAMS NIH HHS U54 AR057319NIAMS NIH HHS U54AR057319NIGMS NIH HHS GM103510NIGMS NIH HHS P30 GM103510
6 · The paper itself

Abstract

Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B*52. We genotyped ~200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r(2) < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10(-16)) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10(-9); and rs189754752, OR = 2.47, p = 4.22 × 10(-9)). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10(-12)). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10(-8)).

Indexed as

Genetic LociGenetic Predisposition to DiseaseFemaleGenotyping TechniquesHistocompatibility Antigens Class IHLA-B AntigensHLA-DQ beta-ChainsHLA-DRB1 ChainsHumansInterleukin-12 Subunit p40MaleMutationNorth AmericaReceptors, IgGRiskTakayasu ArteritisFCGR2A protein, humanFCGR3A protein, humanHistocompatibility Antigens Class IHLA-B AntigensHLA-DQB1 antigenHLA-DQ beta-ChainsHLA-DRB1 ChainsIL12B protein, humanInterleukin-12 Subunit p40MHC class I-related chain AReceptors, IgG

Identifiers

PMID23830517
PMCPMC3738826
OpenAlexW2038899919

What OpenQuestion holds

Textmetadata
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.