[Association of rs3025058 polymorphism with the development of stroke in patients with cardiovascular pathology].

Aim: To study the association of single-nucleotide polymorphismrs3025058(5а/6а) with the development of stroke in patients of the East Siberian population with cardiovascular pathology and risk factors for its development.

Materials And Methods: The study involved 260 patients with stroke (age [57.0; 51.

Clinical application of chromosome 9p21.3 genotyping in patients with coronary artery disease.

The aim of the present study was to investigate the susceptibility of two coronary artery disease (CAD)-associated single nucleotide polymorphisms on 9p21 ( and ) to myocardial infarction (MI) in a primary (stratification of high risk group for MI) and secondary prevention setting. The prospective observational study included 500 patients with MI [411 males (82.2%) and 89 females (17.

Putative role of Brugada syndrome genes in familial atrial fibrillation.

Objective: Familial atrial fibrillation (FAF), a not uncommon arrhythmia of the atrium, is characterized by heritability, early onset and absence of other heart defects. The molecular and genetic basis is still not completely clear and genetic diagnosis cannot be achieved in about 90% of patients. In this study, we present the results of genetic screening by next generation sequencing in affected Russian families.

Association of SOCS5 gene polymorphism with allergic bronchial asthma.

Aim: To study the association of mononucleotide polymorphism rs6737848 SOCS5 gene with the risk of development of allergic bronchial asthma.

Materials And Methods: Totally 59 patients studied (19 males, 40 females) with allergic bronchial asthma and 50 healthy people (29 males, 21 females) of controls. All patients underwent clinical and instrumental and laboratory investigations in KICH №20 (Krasnoyarsk city) and molecular-genetic investigation of DNA in the Russia-Italian laboratory "MAGI" (Krasnoyarsk city) and Institution of Internal and Preventive Medicine (Novosibirsk city).

Polymorphisms of the SCN10A Gene in Patients With Sick Sinus Syndrome.

Purpose: To study association of rs6795970 polymorphism of SCN10A gene with development of idiopathic sick sinus syndrome (ISSS).

Materials And Methods: We examined 109 patients with ISSS, 59 their healthy 1-st-, 2-nd-, and 3-rd-degree relatives, and 630 controls. Patients with ISSS were divided into subgroups according to gender and clinical variant of the disease.

[Role of AGTR1 A/C polymorphism in the development of atrial fibrillation].

Aim: To investigate the AGTR1 A/C polymorphism associated with atrial fibrillation (AF) to form risk groups among patients who are prone to this disease.

Subjects And Methods: 90 probands with a confirmed diagnosis of AF and their 144 first-, second-, and third-degree relatives were examined. These families made up a study group.

TNFR1 -383 A˃C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study.

The aim of this study was to assess the association between the TNFR1 rs2234649 polymorphism and ankylosing spondylitis susceptibility in a Russian Caucasian population. A total of 41 ankylosing spondylitis patients and 43 healthy controls, matched according to age and sex, were enrolled, and polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the rs2234649 variant. We evaluated genotype distributions in the patient and control groups with the chi-square test, and assessed the relationship between genotypes and ankylosing spondylitis using the odds ratio.

Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.

Chronic fatigue syndrome (CFS) is a disease that can seriously impair one's quality of life; patients complain of excessive fatigue and myalgia following physical exertion. This disease may be associated with abnormalities in genes affecting exercise tolerance and physical performance. Adenosine monophosphate deaminase (AMPD1), carnitine palmitoyltransferase II (CPT2), and the muscle isoform of glycogen phosphorylase (PYGM) genes provide instructions for producing enzymes that play major roles in energy production during work.

[The Role of Transcriptional Factor Gene TBX5 in Development of Disorders of Cadiac Conduction].

In order to study relationship between development of idiopathic atrioventricular (AV) and intraventricular disorders of cardiac conduction (DCC) with single nucleotide polymorphism (SNP) of TBX5 gene we examined 260 persons with primary DCC (71 patients with abnormal AV conduction, 84 and 105 patients with disordered conduction along right and left brunches of His bundle, respectively) as well as 257 individuals without cardiovascular diseases (control group). Patients were divided into subgroups depending on nosology, age, and sex. Diagnosis was verified by standard cardiological methods and retrospective analysis of available results of previous examinations.

An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.

Aim: The aim of this study was to investigate the predictive value of the rs1805124 polymorphism of the SCN5A gene with regard to idiopathic cardiac conduction disorders.

Results: The AG genotype frequency was significantly higher in patients with an atrioventricular block (61,2%±6,0%) compared with healthy control subjects (34,8%±2,3%), p<0.0001.

[Polymorphic alele variants of eNOS gene in patients with disorders of cardiac conduction].

We studied the role of endothelial nitric oxide synthase gene polymorphism 4a/4b in development of such disturbances of cardiac conduction as atrioventricular (AV) block and sick sinus node syndrome (SSNS). We examined 69 subjects (36 men, 33 women) with AV block and 90 subjects (33 men and 57 women) with SSNS. They were divided into groups in dependence on type of conduction disorder and sex.

[The role of alfa-2-beta-adrenoreceptor in development of ventricular conduction disturbance].

Background: The purpose of this study was to investigate association between the genetic polymorphism I/D of gene α2β-adrenoreceptor (ADRA2B) and hereditary disorders of ventricular conduction.

Patients And Methods: In this study, 102 people with complete left bundle branch block (45.71 ± 1.

[α-2β-adrenoreceptor gene polymorphism in patients with disorders of cardiac conduction].

The article is devoted to the role of insertion-deletion polymorphism of -2-adrenoreceptor gene in development of hereditary disorders of cardiac conduction. We examined 71 patients with atrioventricular blocks and 92 patients with sick sinus node syndrome. Statistically significant preponderance of homozygous genotype DD of ADRA2B gene was found in both groups.

[Genetic predictors of myocardial infarction in subjects of young age].

to investigate associations of single nucleotide polymorphisms (SNP) rs499818 (6p24.1), rs619203 of ROS1 gene (6q22), rs10757278 rs1333049 (9p21.3), rs2549513 (16q23.

[Genetic predictors of sick sinus node syndrome].

The article is devoted to the role of heredity in development of the sick sinus node syndrome (SSNS). We have examined 14 probands and 110 their relatives from families with idiopathic SSNS and established the role in development of hereditary SSNS of polymorphisms of the following genes: -2-adrenoreceptor, enzyme endothelial NO synthase, protein connexin 40, voltage dependent cardiac sodium channels, cardiac myosin heavy chains. We also revealed associations of clinical variants of idiopathic SSNS with genotypes of the studied genes.

[Interrelationship between polymorphic markers of methylenetetrahydrofolate reductase gene and development of acute disturbance of brain circulation in families of patients with atrial fibrillation].

In the present work we for the first time on the clinic-genetic material revealed genetic predictors of development of acute disturbance of brain circulation (ADBC) in families of patients with atrial fibrillation (AF) namely polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene. Genotype CC was significantly more often found among patients with AF and ADBC compared with controls (58.1 and 35.

[Association of 2B-adrenergic receptor gene polymorphism with disturbances of cardiac conduction].

In this work we for the first time revealed on clinical - genetic material association between hereditary disturbances of cardiac conduction and polymorphism of 2-adrenergic receptor gene.

[Polymorphisms of 2B-adrenergic receptor and endothelial NO-Synthase genes in genesis of the hereditary sick sinus node syndrome].

In this work we have demonstrated for the first time on the clinico-genetic material association between hereditary sick sinus node syndrome (SSNS) ADRA2B and eNOS genes polymorphisms. We have established predominance of homozygote genotype of more rare DD allele in patients with SSNS (28%) compared with subjects of control group (8.99%).

[Polymorphism of connexin 40 gene-- a novel genetic marker of the sick sinus node syndrome].

In this work we have demonstrated for the first time on the clinico-genetic material association between hereditary sick sinus node syndrome and connexin 40 gene polymorphism. We have revealed that heterozygous variant of connexin 40 gene variant is more frequent among patients with sick sinus node syndrome and their healthy relatives than in persons of control group.

[Ser49gly polymorphism as predictor of development of hereditary sick sinus node syndrome].

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.