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Association of Soma...
Association of Somatic TET2 Mutations With Giant Cell Arteritis
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- Robinette, Michelle L. (author)
- Brigham and Women's Hospital / Harvard Medical School
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- Weeks, Lachelle D. (author)
- Dana-Farber Cancer Institute
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- Kramer, Ryan J. (author)
- Duke University
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- Agrawal, Mridul (author)
- Dana-Farber Cancer Institute
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- Gibson, Christopher J. (author)
- Dana-Farber Cancer Institute
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- Yu, Zhi (author)
- Massachusetts General Hospital
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- Sekar, Aswin (author)
- Dana-Farber Cancer Institute
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- Mehta, Arnav (author)
- Massachusetts General Hospital
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- Niroula, Abhishek (author)
- Lund University,Lunds universitet,Hematogenomics,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Dana-Farber Cancer Institute
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- Brown, Jared T. (author)
- Dana-Farber Cancer Institute
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- McDermott, Gregory C. (author)
- Brigham and Women's Hospital / Harvard Medical School
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- Reshef, Edith R. (author)
- Boston Children's Hospital
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- Lu, Jonathan E. (author)
- Harvard Medical School
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- Liou, Victor D. (author)
- Harvard Medical School
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- Chiou, Carolina A. (author)
- Harvard Medical School
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- Natarajan, Pradeep (author)
- Massachusetts General Hospital
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- Freitag, Suzanne K. (author)
- Harvard Medical School
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- Rao, Deepak A. (author)
- Brigham and Women's Hospital / Harvard Medical School
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- Ebert, Benjamin L. (author)
- Howard Hughes Medical Institute
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(creator_code:org_t)
- 2024
- 2024
- English 6 s.
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In: Arthritis and Rheumatology. - 2326-5191. ; 76:3, s. 438-443
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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Abstract
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- Objective: Giant 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. Methods: To 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. Results: UKB 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). Conclusions: CH 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
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- By the author/editor
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Robinette, Miche ...
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Weeks, Lachelle ...
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Kramer, Ryan J.
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Agrawal, Mridul
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Gibson, Christop ...
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Yu, Zhi
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show more...
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Sekar, Aswin
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Mehta, Arnav
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Niroula, Abhishe ...
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Brown, Jared T.
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McDermott, Grego ...
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Reshef, Edith R.
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Lu, Jonathan E.
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Liou, Victor D.
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Chiou, Carolina ...
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Natarajan, Prade ...
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Freitag, Suzanne ...
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Rao, Deepak A.
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Ebert, Benjamin ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Rheumatology and ...
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Arthritis and Rh ...
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Lund University