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Association of Somatic TET2 Mutations With Giant Cell Arteritis.


ABSTRACT:

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

SUBMITTER: Robinette ML 

PROVIDER: S-EPMC10922498 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature