Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease.
Chagasic heart disease is a chronic inflammatory cardiomyopathy that represents the most frequent and severe clinical consequence of the infection in our environment. Given the fundamental role of the type V voltage dependent sodium channel (SCN5A) for cardiac electrophysiology, this gene has b...
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| Formato: | Artículo revista |
| Lenguaje: | Español |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2019
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| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/25714 |
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I10-R327-article-25714 |
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ojs |
| institution |
Universidad Nacional de Córdoba |
| institution_str |
I-10 |
| repository_str |
R-327 |
| container_title_str |
Revista de la Facultad de Ciencias Médicas de Córdoba |
| language |
Español |
| format |
Artículo revista |
| topic |
chagas heart disease polymorphism H558R chagas cardiopatia polimorfismo H558R |
| spellingShingle |
chagas heart disease polymorphism H558R chagas cardiopatia polimorfismo H558R Blasco, RL Tabares, S Sembaj, A Strauss, M Lo Presti, S Paglini, P Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease. |
| topic_facet |
chagas heart disease polymorphism H558R chagas cardiopatia polimorfismo H558R |
| author |
Blasco, RL Tabares, S Sembaj, A Strauss, M Lo Presti, S Paglini, P |
| author_facet |
Blasco, RL Tabares, S Sembaj, A Strauss, M Lo Presti, S Paglini, P |
| author_sort |
Blasco, RL |
| title |
Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease. |
| title_short |
Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease. |
| title_full |
Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease. |
| title_fullStr |
Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease. |
| title_full_unstemmed |
Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease. |
| title_sort |
study of the h558r polymorphism of the scn5a gene in the genesis of chagasic heart disease. |
| description |
Chagasic heart disease is a chronic inflammatory cardiomyopathy that represents the most frequent and severe clinical consequence of the infection in our environment. Given the fundamental role of the type V voltage dependent sodium channel (SCN5A) for cardiac electrophysiology, this gene has been examined in a wide range of populations and pathologies but has not been evaluated in patients with Chagas disease.
The aim of the present work was to establish a possible association between H558R polymorphism in the SCN5A gene, with clinical, electrocardiographic and echocardiographic parameters, in patients with positive serology, in order to explain the symptomatic heterogeneity and detect a risk profile.
In a case-control study, 95 individuals were studied: 70 seropositive and 25 seronegative. All participants signed an informed consent. An epidemiological clinical questionnaire, physical examination, ECG (frequency, rhythm, axis, conduction disorders) and echocardiogram (motility, systolic and diastolic function) were performed. An aliquot of blood was used to determine the serology (HAI and ELISA), and the DNA was isolated to identify the proposed polymorphism through polymerase chain reaction. We analyzed allele and genotype frequencies using χ2 test and logistic regression to calculate the odds ratio (OR). A value of p<0.05 was considered statistically significant.
H558R genotypic frequencies: 35.7% CC genotype, 48.5% CT and 15.8% TT. The CT genotype was also more frequent (48%) in seronegative patients. Symptoms and signs of decompensated heart failure predominated in this group. CC genotype carriers with negative serology presented major alterations in the ECG and ECO such as: AV block, prolonged QTc, cavity dilatation and deterioration of systolic function, without significant differences between the groups. Logistic regression analysis showed that the C allele was significantly associated with an increased risk of developing left atrial dilation (P = 0.049, OR = 2.77, CI = 1–7.76).
Greater susceptibility to myocardial damage was found among the carriers of the C allele of the H558R polymorphism, so that this allele could confer a greater risk of occurrence and progression of chagasic heart disease.
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| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2019 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/25714 |
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I10-R327-article-257142024-08-27T18:26:08Z Study of the H558R polymorphism of the SCN5A gene in the genesis of chagasic heart disease. Estudio del polimorfismo H558R del gen SCN5A en la génesis de la cardiopatía chagásica. Blasco, RL Tabares, S Sembaj, A Strauss, M Lo Presti, S Paglini, P chagas heart disease polymorphism H558R chagas cardiopatia polimorfismo H558R Chagasic heart disease is a chronic inflammatory cardiomyopathy that represents the most frequent and severe clinical consequence of the infection in our environment. Given the fundamental role of the type V voltage dependent sodium channel (SCN5A) for cardiac electrophysiology, this gene has been examined in a wide range of populations and pathologies but has not been evaluated in patients with Chagas disease. The aim of the present work was to establish a possible association between H558R polymorphism in the SCN5A gene, with clinical, electrocardiographic and echocardiographic parameters, in patients with positive serology, in order to explain the symptomatic heterogeneity and detect a risk profile. In a case-control study, 95 individuals were studied: 70 seropositive and 25 seronegative. All participants signed an informed consent. An epidemiological clinical questionnaire, physical examination, ECG (frequency, rhythm, axis, conduction disorders) and echocardiogram (motility, systolic and diastolic function) were performed. An aliquot of blood was used to determine the serology (HAI and ELISA), and the DNA was isolated to identify the proposed polymorphism through polymerase chain reaction. We analyzed allele and genotype frequencies using χ2 test and logistic regression to calculate the odds ratio (OR). A value of p<0.05 was considered statistically significant. H558R genotypic frequencies: 35.7% CC genotype, 48.5% CT and 15.8% TT. The CT genotype was also more frequent (48%) in seronegative patients. Symptoms and signs of decompensated heart failure predominated in this group. CC genotype carriers with negative serology presented major alterations in the ECG and ECO such as: AV block, prolonged QTc, cavity dilatation and deterioration of systolic function, without significant differences between the groups. Logistic regression analysis showed that the C allele was significantly associated with an increased risk of developing left atrial dilation (P = 0.049, OR = 2.77, CI = 1–7.76). Greater susceptibility to myocardial damage was found among the carriers of the C allele of the H558R polymorphism, so that this allele could confer a greater risk of occurrence and progression of chagasic heart disease. La cardiopatía chagásica es una miocardiopatía inflamatoria crónica que representa en nuestro medio la más frecuente y severa consecuencia clínica de la infección. Dado el papel fundamental que desempeña canal de sodio voltaje dependiente, tipo V (SCN5A) en la electrofisiología cardíaca, el gen ha sido examinado en un amplio rango de poblaciones y patologías, pero no ha sido evaluado en los pacientes con chagas. El objetivo fue establecer una posible asociación entre el polimorfismo H558R del gen SCN5A, con parámetros clínicos, electrocardiográficos y ecocardiográficos, en pacientes con serología positiva, a fin de explicar la heterogeneidad sintomatológica y detectar un perfil de riesgo. En un estudio de casos y controles, se estudiaron 95 individuos: 70 seropositivos y 25 seronegativos. Todos los participantes firmaron un consentimiento informado. Se les realizó un cuestionario clínico epidemiológico, examen físico, ECG (frecuencia, ritmo, eje, trastornos de conducción, etc) y ecocardiograma (motilidad, función sistólica y diastólica). De una alícuota de sangre se determinó la serología (HAI y ELISA), reacción en cadena de polimerasa, se aisló el ADN y se procedió a la identificación del polimorfismo propuesto. Analizamos frecuencias alélicas y genotípicas mediante el análisis de la prueba de χ2 y la regresión logística para calcular los odds ratio (OR).Un valor de p <0,05 se consideró estadísticamente significativo. Frecuencia genotípica H558R: el 35,7% genotipo CC, el 48,5% TC y el 15,8% TT. El genotipo TC también fue más frecuente (48%) en los seronegativos. En éste grupo predominaron los síntomas y signos de insuficiencia cardíaca descompensada. Los portadores del genotipo CC con serología negativa presentaron mayores alteraciones en el ECG y ECO como: bloqueo AV, QTc prolongado, dilatación de cavidades y deterioro de la función sistólica etc., sin diferencias significativas entre los grupos. El análisis de regresión logística mostró que el alelo C se asoció significativamente con un mayor riesgo de desarrollar dilatación de la aurícula izquierda (P = 0.049, OR = 2.77, IC = 1–7.76). Se encontró mayor susceptibilidad para el daño miocárdico entre los portadores del alelo C del polimorfismo H558R por lo que éste alelo podría conferir mayor riesgo de aparición y progresión de la cardiopatía Chagásica. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2019-10-10 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/25714 Revista de la Facultad de Ciencias Médicas de Córdoba.; 2019: Suplemento JIC XX Revista de la Facultad de Ciencias Médicas de Córdoba; 2019: Suplemento JIC XX Revista da Faculdade de Ciências Médicas de Córdoba; 2019: Suplemento JIC XX 1853-0605 0014-6722 10.31053/1853.0605.v76.nSuplemento spa https://revistas.unc.edu.ar/index.php/med/article/view/25714/27408 Derechos de autor 2019 Universidad Nacional de Córdoba https://creativecommons.org/licenses/by-nc/4.0 |