SCN5A gene variants as potential markers of the progression of chronic chagasic cardiac alterations.

Autor: Blasco RL; Instituto de Investigaciones en Ciencias de la Salud (INICSA) UNC - CONICET, Centro de Estudios e Investigación de la Enfermedad de Chagas y Leishmaniasis, Cátedra de Física Biomédica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina., Strauss M; Instituto de Investigaciones en Ciencias de la Salud (INICSA) UNC - CONICET, Centro de Estudios e Investigación de la Enfermedad de Chagas y Leishmaniasis, Cátedra de Física Biomédica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina. Electronic address: marianastr86@gmail.com., Velázquez López DA; Instituto de Investigaciones en Ciencias de la Salud (INICSA) UNC - CONICET, Centro de Estudios e Investigación de la Enfermedad de Chagas y Leishmaniasis, Cátedra de Física Biomédica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina., Tabares S; Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina., Sembaj A; Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina., Rivarola HW; Instituto de Investigaciones en Ciencias de la Salud (INICSA) UNC - CONICET, Centro de Estudios e Investigación de la Enfermedad de Chagas y Leishmaniasis, Cátedra de Física Biomédica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina., Paglini PA; Instituto de Investigaciones en Ciencias de la Salud (INICSA) UNC - CONICET, Centro de Estudios e Investigación de la Enfermedad de Chagas y Leishmaniasis, Cátedra de Física Biomédica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina., Lo Presti MS; Instituto de Investigaciones en Ciencias de la Salud (INICSA) UNC - CONICET, Centro de Estudios e Investigación de la Enfermedad de Chagas y Leishmaniasis, Cátedra de Física Biomédica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Argentina. Electronic address: silvinalopresti@unc.edu.ar.
Jazyk: angličtina
Zdroj: Parasitology international [Parasitol Int] 2021 Feb; Vol. 80, pp. 102213. Date of Electronic Publication: 2020 Oct 31.
DOI: 10.1016/j.parint.2020.102213
Abstrakt: Host genetic factors have been proposed as determinants of the variable progression of Chagas disease (ChD). Two polymorphisms, H558R and A572D, of the voltage-gated sodium channel α-subunit SCN5A gene were studied in chagasic patients in order to determine their contribution to the susceptibility to the development and/or to the progression of the cardiovascular disease. A total of 104 patients were classified as seronegative or seropositive for Trypanosoma cruzi antibodies. Clinical evaluation, electrocardiograms (ECG) and echocardiograms (Echo) were performed to detect any conduction and/or structural alteration. Patients were classified into: G1: without ECG and/or Echo alterations, G2: with ECG alterations and G3: with ECG and Echo alterations. H558R and A572D polymorphisms were detected by PCR. Cardiac alterations were more frequent in G2 + G3 seropositive patients. For H558R polymorphism, the C allele was significantly increased in seropositive G2 + G3 patients (P = 0.049. OR = 2.08; 95% CI = 1.12-4.33). When comparing the disease cardiac progression (G2 vs G3), the genotypes from the H558R polymorphism were associated to more intense cardiac alterations (P = 0.018). For A572D polymorphism, no associations were found. The results suggest a possible involvement of SCN5A polymorphisms in the susceptibility to chronic ChD and the disease progression, contributing to the elucidation of the molecular mechanism underlying this complex myocardiopathy. In this regard, this is the first work that studies this gene in the context of chagasic cardiomyopathy.
(Copyright © 2020 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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