Evidence map›Paper›PMID 37909388›Full record

ArticleArthritis & rheumatology (Hoboken, N.J.)2024

Association of Somatic TET2 Mutations With Giant Cell Arteritis.

Michelle L Robinette, Lachelle D Weeks, Ryan J Kramer, Mridul Agrawal, Christopher J Gibson, Zhi Yu, Aswin Sekar, Arnav Mehta, Abhishek Niroula, Jared T Brown and 9 more

Open access · hybridAbstract read
In one paragraph

Article in Arthritis & rheumatology (Hoboken, N.J.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
5.2field-weighted citation impact, top 4% 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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Observational
  8. Review
  9. Expert Perspective: Hematologic Malignancies and Vasculitis.Arthritis & rheumatology (Hoboken, N.J.) · 2025
    Review
  10. Review
  11. Review
  12. Article
  13. Article
  14. Review
  15. Clones in blood and stratified epithelial cells, and their drivers.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2025
    Review
  16. Observational
  17. Review
  18. Article
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

19 authors at 6 institutions in 3 countries.

Michelle L RobinetteDana-Farber Cancer Institute and Brigham and Women's Hospital, Boston, Massachusetts.
Lachelle D WeeksDana-Farber Cancer Institute and Center for Leukemia and Center for Early Detection and Interception of Blood Cancers, Boston, Massachusetts.
Ryan J KramerDana-Farber Cancer Institute, Boston, Massachusetts, and Duke University School of Medicine, Durham, North Carolina.
Mridul AgrawalDana-Farber Cancer Institute, Boston, Massachusetts.
Christopher J GibsonDana-Farber Cancer Institute, Boston, Massachusetts.
Zhi YuThe Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, and Cardiovascular Research Center, Massachusetts General Hospital, Boston.ORCID 0000-0003-4810-3474
Aswin SekarDana-Farber Cancer Institute, Boston, Massachusetts.
Arnav MehtaMassachusetts General Hospital Cancer Center and Harvard Medical School, Boston.
Abhishek NiroulaDana-Farber Cancer Institute, Boston, Massachusetts, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, and Lund University, Lund, Sweden.
Jared T BrownDana-Farber Cancer Institute, Boston, Massachusetts.
Gregory C McDermottBrigham and Women's Hospital, Boston, Massachusetts.ORCID 0000-0002-9750-5448
Edith R ReshefMassachusetts Eye and Ear Infirmary, Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts.
Jonathan E LuMassachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.
Victor D LiouMassachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.
Carolina A ChiouMassachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.
Pradeep NatarajanThe Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, and Cardiovascular Research Center, Massachusetts General Hospital, Boston.
Suzanne K FreitagMassachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.
Deepak A RaoBrigham and Women's Hospital, Boston, Massachusetts.ORCID 0000-0001-9672-7746
Benjamin L EbertDana-Farber Cancer Institute, Boston, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, and Howard Hughes Medical Institute, Boston, Massachusetts.ORCID 0000-0003-0197-5451
Dana-Farber Cancer Institute · USMassachusetts Eye and Ear Infirmary · USBroad Institute · USBrigham and Women's Hospital · USDuke University · USHarvard University · US

Funding

TYROSINE KINASE ONCOGENESIS IN MYELOID LEUKEMIAP01CA066996 · NCI · DANA-FARBER CANCER INSTITUTE · PI SCOTT A ARMSTRONG · 1996 to 2026
$52.5M
TRAINING PROGRAM IN CARDIOVASCULAR RESEARCHT32HL007604 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARK W FEINBERG · 1985 to 2026
$19.0M
Targeting SYK Kinase in AMLP50CA206963 · NCI · DANA-FARBER CANCER INST · PI STEGMAIER, KIMBERLY · 2017 to 2021
$10.6M
Tyrosine Kinases, Serine-Threonine Kinases,&Phosophatases in PathogenesisP01CA108631 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI BERRY, DONALD A · 2005 to 2009
$9.7M
Joint Biology Consortium Resource-based CenterP30AR070253 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Peter A Nigrovic, Jeffrey Andrew Sparks · 2016 to 2026
$9.4M
Training Program in Molecular HematologyT32HL116324 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI NANCY BERLINER · 2013 to 2026
$7.4M
Functional Genomic Dissection of Refractory AnemiaR01HL082945 · NHLBI · DANA-FARBER CANCER INSTITUTE · PI EBERT, BENJAMIN LEVINE · 2005 to 2022
$6.8M
Clonal hematopoiesis in humans: determinants of development and progressionR01HL148050 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BALLANTYNE, CHRISTIE MITCHELL, NATARAJAN, PRADEEP · 2019 to 2022
$5.9M
The role of clonal hematopoiesis in the development and therapy of myeloid malignanciesR35CA253125 · NCI · DANA-FARBER CANCER INST · PI EBERT, BENJAMIN LEVINE · 2020 to 2024
$4.9M
Molecular control of CD4 T cell ability to help B cellsK08AR072791 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI RAO, DEEPAK ANGARA · 2018 to 2022
$764k
The Impact of Donor Hematopoietic DNMT3A Mutations in Stem Cell Transplant RecipientsK08CA263555 · NCI · DANA-FARBER CANCER INST · PI GIBSON, CHRISTOPHER JAMES · 2021 to 2023
$660k
A Gene Expression Based Blood Test for Rheumatic Disease DiagnosisR43AR055855 · NIAMS · CRESCENDO BIOSCIENCE, INC. · PI SUTTON, CHRISTOPHER L · 2008 to 2008
$147k
Doris Duke Charitable FoundationHoward Hughes Medical InstituteNCI NIH HHS K08 CA263555NCI NIH HHS P01 CA066996NCI NIH HHS P01 CA108631NCI NIH HHS P50 CA206963NCI NIH HHS R35 CA253125NHGRI NIH HHS K99 HG012956NHLBI NIH HHS R01 HL082945NHLBI NIH HHS R01 HL148050NHLBI NIH HHS T32 HL007604NHLBI NIH HHS T32 HL116324NIAMS NIH HHS 5T32HL007604-37NIAMS NIH HHS K07-CA-263555NIAMS NIH HHS K08 AR072791NIAMS NIH HHS K08-AR072791NIAMS NIH HHS P01-CA-108631NIAMS NIH HHS P30 AR070253NIAMS NIH HHS P30-AR070253NIAMS NIH HHS R01-HL-082945NIAMS NIH HHS R01-HL-148050NIAMS NIH HHS R43 AR055855NIAMS NIH HHS T32-AR-055855NIAMS NIH HHS T32HL116324
6 · The paper itself

Abstract

objectiveGiant cell arteritis (GCA) is an age-related vasculitis. Prior studies have identified an association between GCA and hematologic malignancies (HMs). How the presence of somatic mutations that drive the development of HMs, or clonal hematopoiesis (CH), may influence clinical outcomes in GCA is not well understood.

methodsTo examine an association between CH and GCA, we analyzed sequenced exomes of 470,960 UK Biobank (UKB) participants for the presence of CH and used multivariable Cox regression. To examine the clinical phenotype of GCA in patients with and without somatic mutations across the spectrum of CH to HM, we performed targeted sequencing of blood samples and electronic health record review on 114 patients with GCA seen at our institution. We then examined associations between specific clonal mutations and GCA disease manifestations.

resultsUKB participants with CH had a 1.48-fold increased risk of incident GCA compared to UKB participants without CH. GCA risk was highest among individuals with cytopenia (hazard ratio [HR] 2.98, P = 0.00178) and with TET2 mutation (HR 2.02, P = 0.00116). Mutations were detected in 27.2% of our institutional GCA cohort, three of whom had HM at GCA diagnosis. TET2 mutations were associated with vision loss in patients with GCA (odds ratio 4.33, P = 0.047).

conclusionsCH increases risk for development of GCA in a genotype-specific manner, with the greatest risk being conferred by the presence of mutations in TET2. Somatic TET2 mutations likewise increase the risk of GCA-associated vision loss. Integration of somatic genetic testing in GCA diagnostics may be warranted in the future.

Indexed as

DioxygenasesGiant Cell ArteritisDNA-Binding ProteinsHumansMutationDioxygenasesDNA-Binding ProteinsTET2 protein, human

Identifiers

PMID37909388
PMCPMC10922498
OpenAlexW4388140074

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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.