Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385459405> ?p ?o ?g. }
- W4385459405 abstract "Abstract Objective Giant cell arteritis (GCA) is an age-related vasculitis. Prior studies have identified an association between GCA and hematologic malignancies (HM). How the presence of somatic mutations which drive development of HM, 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 470960 UK Biobank 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 (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, 3 of whom had HM at GCA diagnosis. TET2 mutations were associated with vision loss in patients with GCA (OR 4.33, p = 0.047). Conclusions CH increases risk for development of GCA in a genotype-specific fashion, with 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." @default.
- W4385459405 created "2023-08-02" @default.
- W4385459405 creator A5000794179 @default.
- W4385459405 creator A5001078382 @default.
- W4385459405 creator A5007063967 @default.
- W4385459405 creator A5017019285 @default.
- W4385459405 creator A5022066893 @default.
- W4385459405 creator A5023831756 @default.
- W4385459405 creator A5028426879 @default.
- W4385459405 creator A5036583230 @default.
- W4385459405 creator A5036794837 @default.
- W4385459405 creator A5046353097 @default.
- W4385459405 creator A5047884631 @default.
- W4385459405 creator A5050468541 @default.
- W4385459405 creator A5053311081 @default.
- W4385459405 creator A5055988061 @default.
- W4385459405 creator A5061569936 @default.
- W4385459405 creator A5070668676 @default.
- W4385459405 creator A5083349796 @default.
- W4385459405 creator A5087340009 @default.
- W4385459405 creator A5087363410 @default.
- W4385459405 date "2023-07-31" @default.
- W4385459405 modified "2023-09-27" @default.
- W4385459405 title "Somatic<i>TET2</i>Mutations are Associated with Giant Cell Arteritis" @default.
- W4385459405 cites W1171241794 @default.
- W4385459405 cites W1795206698 @default.
- W4385459405 cites W2079567211 @default.
- W4385459405 cites W2149858388 @default.
- W4385459405 cites W2628145035 @default.
- W4385459405 cites W2789900003 @default.
- W4385459405 cites W3041347023 @default.
- W4385459405 cites W3131752598 @default.
- W4385459405 cites W4226192693 @default.
- W4385459405 cites W4283071596 @default.
- W4385459405 cites W4283271244 @default.
- W4385459405 cites W4311298607 @default.
- W4385459405 cites W4328048447 @default.
- W4385459405 cites W4365133685 @default.
- W4385459405 doi "https://doi.org/10.1101/2023.07.26.23292945" @default.
- W4385459405 hasPublicationYear "2023" @default.
- W4385459405 type Work @default.
- W4385459405 citedByCount "0" @default.
- W4385459405 crossrefType "posted-content" @default.
- W4385459405 hasAuthorship W4385459405A5000794179 @default.
- W4385459405 hasAuthorship W4385459405A5001078382 @default.
- W4385459405 hasAuthorship W4385459405A5007063967 @default.
- W4385459405 hasAuthorship W4385459405A5017019285 @default.
- W4385459405 hasAuthorship W4385459405A5022066893 @default.
- W4385459405 hasAuthorship W4385459405A5023831756 @default.
- W4385459405 hasAuthorship W4385459405A5028426879 @default.
- W4385459405 hasAuthorship W4385459405A5036583230 @default.
- W4385459405 hasAuthorship W4385459405A5036794837 @default.
- W4385459405 hasAuthorship W4385459405A5046353097 @default.
- W4385459405 hasAuthorship W4385459405A5047884631 @default.
- W4385459405 hasAuthorship W4385459405A5050468541 @default.
- W4385459405 hasAuthorship W4385459405A5053311081 @default.
- W4385459405 hasAuthorship W4385459405A5055988061 @default.
- W4385459405 hasAuthorship W4385459405A5061569936 @default.
- W4385459405 hasAuthorship W4385459405A5070668676 @default.
- W4385459405 hasAuthorship W4385459405A5083349796 @default.
- W4385459405 hasAuthorship W4385459405A5087340009 @default.
- W4385459405 hasAuthorship W4385459405A5087363410 @default.
- W4385459405 hasBestOaLocation W43854594051 @default.
- W4385459405 hasConcept C104317684 @default.
- W4385459405 hasConcept C126322002 @default.
- W4385459405 hasConcept C134305767 @default.
- W4385459405 hasConcept C13514818 @default.
- W4385459405 hasConcept C135763542 @default.
- W4385459405 hasConcept C2776015282 @default.
- W4385459405 hasConcept C2776712624 @default.
- W4385459405 hasConcept C2779134260 @default.
- W4385459405 hasConcept C501734568 @default.
- W4385459405 hasConcept C54355233 @default.
- W4385459405 hasConcept C71924100 @default.
- W4385459405 hasConcept C72563966 @default.
- W4385459405 hasConcept C86803240 @default.
- W4385459405 hasConceptScore W4385459405C104317684 @default.
- W4385459405 hasConceptScore W4385459405C126322002 @default.
- W4385459405 hasConceptScore W4385459405C134305767 @default.
- W4385459405 hasConceptScore W4385459405C13514818 @default.
- W4385459405 hasConceptScore W4385459405C135763542 @default.
- W4385459405 hasConceptScore W4385459405C2776015282 @default.
- W4385459405 hasConceptScore W4385459405C2776712624 @default.
- W4385459405 hasConceptScore W4385459405C2779134260 @default.
- W4385459405 hasConceptScore W4385459405C501734568 @default.
- W4385459405 hasConceptScore W4385459405C54355233 @default.
- W4385459405 hasConceptScore W4385459405C71924100 @default.
- W4385459405 hasConceptScore W4385459405C72563966 @default.
- W4385459405 hasConceptScore W4385459405C86803240 @default.
- W4385459405 hasLocation W43854594051 @default.
- W4385459405 hasOpenAccess W4385459405 @default.
- W4385459405 hasPrimaryLocation W43854594051 @default.
- W4385459405 hasRelatedWork W2016712296 @default.
- W4385459405 hasRelatedWork W2056740257 @default.
- W4385459405 hasRelatedWork W2122019564 @default.
- W4385459405 hasRelatedWork W2152668556 @default.
- W4385459405 hasRelatedWork W2433215378 @default.
- W4385459405 hasRelatedWork W2613868166 @default.
- W4385459405 hasRelatedWork W2762413087 @default.
- W4385459405 hasRelatedWork W2796486454 @default.