Effect of epigenetics on rheumatoid arthritis.

Rheumatoid arthritis is an autoimmune and inflammatory disease that predominantly affects the diarthrodial joints. In this pathology, environmental or behavioral factors can act in synergy with genetic predisposition, accelerating the onset and severity of the disease. This link between the environment and the genome is mediated by epigenetic marks on deoxyribonucleic acid, including its methylation, histone modification, and noncoding ribonucleic acid-mediated regulation.

Role of HLA-DQB1 alleles in the risk, signs and symptoms, and severity of celiac disease in a Venezuelan population.

Introduction And Aims: Celiac disease (CD) is a complex condition, whose main genetic determinant involves HLA molecules, specifically the HLA-DQ2 and/or HLA-DQ8 heterodimers. Nevertheless, the frequency of the alleles encoding those molecules has not been reported in Venezuelan celiac patients. Therefore, the aim of our study was to evaluate the frequency of the HLA-DQB1 alleles in individuals with symptoms suggestive of CD and define the diagnostic markers of the condition in a Venezuelan population.

Polymorphisms of the TLR4 gene: Risk factor for chronicity and severity in oral vectorial Chagas disease.

Chagas disease is one of the parasitic infections with the greatest socio-economic impact in Latin America. In Venezuela, epidemiological data has shown different sources of infection, such as the vectorial route by oral transmission. Given the importance of the TLR4 gene in the innate immune response triggered by infection with Trypanosoma cruzi, this work analyses the role of TLR4 polymorphisms and its possible effect on cytokine expression.

[Polimorfismo de genes de citocinas: ¿factores de riesgo cardiovascular en la población venezolana?].

Objective: To examine whether the polymorphisms of the IL6, TNFA and IL10 genes represent a risk marker for acute myocardial infarction (AMI) and to analyze their correlation with risk factors, age of occurrence and type of AMI.

Method: Association study that included 310 unrelated Venezuelan individuals, grouped in 190 patients with AMI and 120 controls with or without cardiovascular risk factors. The IL6-174 G/C (rs1800795), TNFA -308 G/A (rs1800629), and IL10-1082 A/G (rs1800896), -819 C/T (rs1800871) and -592 C/A (rs1800872) polymorphisms were determined using the polymerase chain reaction technique with sequence-specific primers.

Genetic variability of molecules involved in the disease pathogenesis in Leishmania infection.

Macrophages are the primary host cell for Leishmania parasites, by Toll like receptors (TLR-MyD88) that are central components of the innate and adaptive immunity against leishmania infection. The CD40/CD40L interaction has also been shown to be important in resistance to various protozoa. In this context, one of the most important properties of suppressors of cytokine signalling (SOCS) proteins, especially SOCS1 and SOCS3, is the regulation of macrophages cell for Leishmania parasites.