APA
Belmonte, Thalía & Mangas, Alipio & Calderon Dominguez, María & Quezada Feijoó, Dolores Maribel & Ramos Sánchez, Mónica & Campuzano, Oscar & Gómez, Silvia & Peña, María Luisa & Cubillos Arango, Andrés M. & Dominguez, Fernando & Llorente Cortés, Vicenta & González Calvo, David & Toro, Rocío .Peripheral microRNA panels to guide the diagnosis of familial cardiomyopathy.
ISO 690
Belmonte, Thalía & Mangas, Alipio & Calderon Dominguez, María & Quezada Feijoó, Dolores Maribel & Ramos Sánchez, Mónica & Campuzano, Oscar & Gómez, Silvia & Peña, María Luisa & Cubillos Arango, Andrés M. & Dominguez, Fernando & Llorente Cortés, Vicenta & González Calvo, David & Toro, Rocío. Peripheral microRNA panels to guide the diagnosis of familial cardiomyopathy.
https://hdl.handle.net/20.500.12080/26019
Résumé:
Etiology-based diagnosis of dilated cardiomyopathy (DCM) is challenging. We
evaluated whether peripheral microRNAs (miRNAs) could be used to characterize
the DCM etiology. We investigated the miRNA plasma profiles of 254 subjects that
comprised 5 groups: Healthy subjects (n = 70), idiopathic DCM patients (n = 55),
ischemic DCM patients (n = 60) and 2 groups of patients with pathogenic variants
responsible for familial DCM in the LMNA (LMNAMUT, n = 37) and BAG3 (BAG3MUT,
n = 32) genes. Diagnostic performance was assessed using receiver operating char acteristic curves. In a screening study (n = 30), 179 miRNAs robustly detected in
plasma samples were profiled in idiopathic DCM and carriers of pathogenic var iants. After filtering, 26 miRNA candidates were selected for subsequent quantifica tion in the whole study population. In the validation study, a 6-miRNA panel
identified familial DCM with an AUC (95% confidence interval [CI]) of 87.8
(82.0 93.6). The 6-miRNA panel also distinguished between specific DCM etiologies
with AUCs ranging from 85.9 to 89.9. Only 1 to 10 of the subjects in the first and sec ond tertiles of the 6-miRNA panel were patients with familial DCM. Additionally, a
5-miRNA panel showed an AUC (95% CI) of 87.5 (80.4 94.6) for the identification of
carriers with pathogenic variants who were phenotypically negative for DCM. The
5-miRNA panel discriminated between carriers and healthy controls with AUCs
ranging from 83.2 to 90.8. Again, only 1 to 10 of the subjects in the lowest tertiles of the 5-miRNA panel were carriers of pathogenic variants. In conclusion, miRNA sig natures could be used to rule out patients with pathogenic variants responsible for
DCM. (Translational Research 2020; 218:1 15)