RESUMO
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 â20 (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). Statistics included standard programs: Statistica for Windows 7.0. RESULTS: The results of the study showed statistical predominance of prevalent genotype СС of SOCS5 gene in allergic bronchial asthma patients, comparing to control group. CONCLUSION: Homozygous genotype of СС gene of SOCS5 is a risk factor for allergic bronchial asthma.
Assuntos
Asma/genética , DNA/genética , Predisposição Genética para Doença , Polimorfismo Genético , Proteínas Supressoras da Sinalização de Citocina/genética , Asma/metabolismo , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , Federação Russa , Proteínas Supressoras da Sinalização de Citocina/metabolismoRESUMO
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. All patients underwent cardiologic examination and molecular genetic testing of DNA. RESULTS: We revealed significant preponderance of homozygous genotype with rare allele of the studied gene among patients with ISSS compared with control group. In addition, this genotype significantly prevailed among men with SSSU in comparison with the control group. CONCLUSION: Genotype AA of the SCN10A gene is associated with a predisposition to the development of ISSS.
Assuntos
Predisposição Genética para Doença , Canal de Sódio Disparado por Voltagem NAV1.8/genética , Síndrome do Nó Sinusal , Alelos , Frequência do Gene , Genótipo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Síndrome do Nó Sinusal/genéticaRESUMO
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. A control group was formed of 100 apparently healthy individuals without a history of cardiovascular diseases. Collection of medical history data and complaints, electrocardiography, electrocardiogram monitoring, as well as molecular genetic analysis, thyroid hormone tests were done in all the patients. RESULTS: No statistically significant data on the correlation between the AGTR1 A/C polymorphism and the development of AF were obtained in any patient subgroup. The obtained results can be due to the genetic features of a Siberian population, which are dependent on climatic conditions and geographical location, and confirm that AF is a heterogeneous disease. CONCLUSION: There were no statistically significant differences between the patients in the study group and those in the control group. Our findings suggest the heterogeneity of AF and confirm its multifactorial nature.
Assuntos
Receptor Tipo 1 de Angiotensina/genética , Adulto , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/epidemiologia , Fibrilação Atrial/genética , Causalidade , Eletrocardiografia/métodos , Exposição Ambiental/efeitos adversos , Exposição Ambiental/estatística & dados numéricos , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Anamnese/métodos , Pessoa de Meia-Idade , Polimorfismo Genético , Fatores de Risco , Sibéria/epidemiologiaRESUMO
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. Molecular-genetic study of DNA was used for identification of genotype of TBX5 gene SNP. The results indicated significant preponderance of rare GG genotype (CNP-marker rs3825214) of TBX5 gene in the group of patients with left bundle branch block and in the subgroup of women with this pathology. These data suggest that presence of GG genotype (rs3825214) of TBX5 gene increases probability of development of idiopathic DCC along left bundle branch mainly in women.
Assuntos
Bloqueio de Ramo/genética , Doença do Sistema de Condução Cardíaco/genética , Sistema de Condução Cardíaco/fisiologia , Proteínas com Domínio T/genética , Adulto , Fascículo Atrioventricular , Doença do Sistema de Condução Cardíaco/fisiopatologia , Eletrocardiografia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Estudos RetrospectivosRESUMO
We studied the mechanism of interaction of peripheral blood neutrophils with endothelial cells (expression of cell adhesion molecules and production of NO) and the role of neutrophil apoptosis in the development of endothelial dysfunction. The effects of mitochondrial dysfunction of neutrophils on the development of apoptosis of these cells after their interaction with endothelial cells were analyzed.
