RESUMEN

We demonstrated for the first time on clinico-genetic material an association of hereditary sick sinus node syndrome (SSNS) with polymorphism of beta-adrenorecetor gene. We found that heterozygous variant of Ser49gly of beta-adrenoreceptor gene was significantly more often met in patients with SSNS and their healthy relatives than in subjects of control group. In the group of patients with SSNS contrary to control group we noted statistically significant preponderance of carriers of mutant Gly49 allele of.

Asunto(s)

ADN/genética , Predisposición Genética a la Enfermedad , Polimorfismo Genético , Receptores Adrenérgicos beta 1/genética , Síndrome del Seno Enfermo/genética , Adulto , Alelos , Ecocardiografía , Electrocardiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Pronóstico , Estudios Prospectivos , Receptores Adrenérgicos beta 1/sangre , Síndrome del Seno Enfermo/sangre , Síndrome del Seno Enfermo/diagnóstico

RESUMEN

We carried out examination of 103 probands with atrial fibrillation (AF) and 301 their 1st, 2nd, and 3rd degree relatives (main group). In addition we examined 82 probands without clinical electrocardiographic signs of heart disease and 163 their 1st and 2nd degree relatives (control group). We found accumulation of AF in families of probands with this pathology. Segregation analysis of idiopathic forms of AF allowed to reveal autosomal dominant type of inheritance of this pathology. Heterozygous variant of Ser49Gly of betai-adrenoreceptor gene can be considered as one of genetic predictors of development of how primary and secondary AF.

Asunto(s)

Fibrilación Atrial/genética , Quinasa 2 del Receptor Acoplado a Proteína-G/genética , Adolescente , Adulto , Anciano , Sustitución de Aminoácidos , Niño , Preescolar , Femenino , Pruebas Genéticas , Glicina/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Polimorfismo Genético , Serina/genética , Adulto Joven