Association of genetic polymorphisms in the development of idiopathic syndrome of weakness of sinus node

Relevance. Multifactorial diseases in comparison with monogenic and chromosomal diseases are less studied group of diseases of the person. At the same time these diseases are widespread and have hereditary predisposition that determines the high level of lifelong risk (lifetime risk). Diseases of the carrying-out system of heart also belong to this group of diseases. It should be noted that such primary disease of the carrying-out system of heart as the sick sinus syndrome, remain the least studied among a cohort of cardiovascular diseases. Purpose. To study influence of polymorphisms of genes (ADRA2B, NOS3, GJA5, MYH6, SCN5A, SCN10A) on emergence of an idiopathic sick sinus syndrome. Material and methods. Group I - 75 patients with an idiopathic sick sinus syndrome: 14 proband (mean age 65,5 ± 10,9 years) and 61 relatives of the I-III degree of relationship (mean age 43,0 ± 17,3 years); group II - 49 healthy relatives of proband of the I-III degree of relationship (mean age 24,2 ± 14,0 years); group III - group of control, 197 patients without cardiovascular pathology (mean age 45,0 ± 20,0 years). Surveyed people have been carried out by: clinical examination, an electrocardiography, atropinic test, an EchoCG, bicycle ergometry, intra-esophageal electrophysiology study, Holter monitoring, scintigraphy, coronary angiography according to indications. Besides, everything surveyed conducted molecular and genetic research of polymorphisms of genes ADRA2B, NOS3, SCN5A, SCN10A, GJA5, MYH6. Results. The scientific hypothesis of a role of polymorphisms of genes of ADRA2B, NOS3, SCN5A, SCN10A, GJA5, MYH6 is given in development of idiopathic sick sinus syndrome. Influence of polymorphisms of the specified genes on emergence and a current of hereditary sick sinus syndrome is established. Associations of polymorphisms of genes ADRA2B, NOS3, SCN5A and SCN10A, GJA5, MYH6 at patients with idiopathic sick sinus syndrome and persons of control group are studied. As a result of research it is revealed that definition genetic a determinant of sick sinus syndrome will be directed to definition of the gene “ensembles” allowing to develop genetic riskier developments of this pathology in families that answers the principles of the personified medicine.

идиопатический СССУ, полиморфные аллельные варианты, ген α2ß-адренорецепторов ADRA2B, ген эндотелиальной NO-синтазы NOS3, гены натриевых сердечных каналов SCN5A и SCN10A, ген коннексина GJA5, ген тяжелых цепей сердечного миозина MYH6, idiopathic sick sinus syndrome, polymorphisms, gene a2ß - ADRA2B adrenoceptors, gene of endothelial NO - NOS3, genes of sodium cardiac channels SCN5A and SCN10A, gene of a connexin of GJA5, a gene of heavy chains of a cardiac myosin of MYH6

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