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经导管主动脉瓣置换术后突变对长期生存的负面影响。

Negative Impact of Mutations on Long-Term Survival After Transcatheter Aortic Valve Replacement.

作者信息

Lassalle Fanny, Duployez Nicolas, Vincent Flavien, Rauch Antoine, Denimal Tom, Rosa Mickael, Labreuche Julien, Dombrowicz David, Staels Bart, Preudhomme Claude, Susen Sophie, Van Belle Eric, Dupont Annabelle

机构信息

University of Lille, Inserm, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1011-EGID, Lille, France.

Unite Mixte de Recherche (UMR) 9020-UMR-S 1277-Canther-Cancer Heterogeneity, Plasticity and Resistance to Therapies, Institut de Recherche contre le Cancer de Lille, University of Lille, CNRS, Inserm, Centre Hospitalier Universitaire Lille, Lille, France.

出版信息

JACC Basic Transl Sci. 2023 Jul 19;8(11):1424-1435. doi: 10.1016/j.jacbts.2023.04.010. eCollection 2023 Nov.

Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) is considered as being a novel age-related risk factor for cardiovascular diseases. By capture-sequencing of a 67-gene panel, we established a large spectrum of CHIP in 258 patients with aortic valve stenosis undergoing transcatheter aortic valve replacement (TAVR) and assessed their association with long-term survival after TAVR. One or several CHIP variants in 35 genes were identified in 68% of the cohort, and being the 2 most frequently mutated genes. Patients carrying a -CHIP-driver variant with low variant allele frequency (2%-10%) had a significant decrease in overall survival 5 years after TAVR.

摘要

不确定潜能克隆造血(CHIP)被认为是一种新的与年龄相关的心血管疾病风险因素。通过对一个包含67个基因的基因 panel 进行捕获测序,我们在258例接受经导管主动脉瓣置换术(TAVR)的主动脉瓣狭窄患者中建立了广泛的CHIP谱,并评估了它们与TAVR后长期生存的关联。在该队列的68%中鉴定出35个基因中的一个或几个CHIP变异,且为两个最常发生突变的基因。携带低变异等位基因频率(2%-10%)的-CHIP驱动变异的患者在TAVR后5年的总生存率显著降低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fdb/10714177/bcc0ce28d83b/fx1.jpg

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