RESUMO
Introducción: Existen factores de riesgo que se asocian a desarrollo cáncer de tiroides diferenciado; la Tiroglobulina es una proteína ligada al tamaño tumoral, su rol dentro de las patologías oncológicas es controversial. El objetivo del estudio fue determinarsi las variaciones del gen de Tiroglobulina se asocian a la presencia de cáncer tiroideo. Métodos:Este estudio observacional de casos y controles se realizó con muestra no probabilística con muestras de patología de casos de cáncertiroideo diagnosticados en elHospital Oncológico Solón Espinosa Ayala de Quito. Se estableció un grupocontrol con voluntarios sanos. Se mide las variaciones SER734Ala y ARG1980 trp del gen de la Tiroglobulina. Se comparan las frecuencias con Chi cuadrado. Resultados:Un total de 51casos de cáncertiroideo y 50 controles. Variaciones en SER734Ala en el grupo de casos fueron homocigotos 24/51casos (53.3% (IC95% 38.8 -67.9%)en el grupo controlfueron24/50(53.3% (IC95% 38.8-67.9%)P=0.83. La variaciónheterocigotaARG1980 trp fueron en el grupo de casos 47/51(92.2%IC95% 84.3 -100%), en los controles 35/50(70% IC95% 56.6-83.4%)P=0.004. Conclusión:Se demostró que lasvariaciones del gen de laTiroglobulina pueden presentarse en pacientes con Cáncer Tiroideo en igual frecuencia que en voluntarios sanos
Introduction: There are risk factors associated with the development of differentiated thyroid cancer; Thyroglobulin is a protein linked to tumor size, its role in oncological pathologies is controversial. The objective of the study was to determine whether variations in the thyroglobulin gene are associated with the presence of thyroid cancer. Methods: This observational case-control study was conducted with a non-probabilistic sample with pathology samples from thyroid cancer cases diagnosed at the Solón Espinosa Ayala Oncological Hospital in Quito. A control group with healthy volunteers was established. The SER734Ala and ARG1980 trp variations of the Thyroglobulin gene are measured. The frequencies werecompared with Chi square. Results:A total of 51 thyroid cancer cases and 50 controls. Variations in SER734Ala in the group of cases were homozygous 24/51 cases (53.3% (CI95% 38.8 -67.9%) in the control group were 24/50 (53.3% (CI95% 38.8-67.9%) P = 0.83. Heterozygous ARG1980 trp were in the case group 47/51 (92.2% 95% CI 84.3 -100%), in the controls 35/50 (70% 95% CI 56.6-83.4%) P = 0.004. Conclusion:It was shown that variations of the Thyroglobulin gene couldoccur in patients with Thyroid Cancer in the same frequency as in healthy volunteers
Assuntos
Humanos , Tireoglobulina , Neoplasias da Glândula Tireoide , Componentes do Gene , VoluntáriosRESUMO
Essential hypertension (HTA) is a multifactorial disease and in Chile, its prevalence is 33.7 percent. There is a genetic predisposition to develop hypertension, whose magnitude is approximately 30 to 50 percent. At present, some factors are known to increase the risk for cardiovascular disease, but widely accepted biomarkers for screening are missing. The frst studies that looked for candidate genes have focused on the reninangiotensin - aldosterone, aducina, adrenoreceptors ß, G protein subunits, G protein signaling regulators, kinases associated with G proteins and Rho kinases. Studies of DNA sequencing, search for polymorphisms and variants through single nucleotide polymorphisms, have been used to seek partnerships with complex or multifactorial diseases, like HTA. Examples of these are: components of collagen proteins, genes related to cell myocardial proteins belonging to cytochrome P450 and growth factors, among others. It is still unlikely to count in a near future with a universal marker. Most probably, a series of markers that confer susceptibility to a specifc individual will have to be used in prevention programs or personalized therapy.
Assuntos
Humanos , Hipertensão/genética , Sistema Renina-Angiotensina/genética , Marcadores GenéticosRESUMO
O parto pré-termo é uma das grandes intercorrências obstétricas, sendo a maior causa de morbidade e mortalidade perinatal. Dentre os diferentes fatores envolvidos no seu desencadeamento, a infecção intra-amniótica parece representar um papel central. As infecções desencadeiam resposta inflamatória nos tecidos materno e fetal, mediada pela produção de citocinas inflamatórias. As citocinas induzem a liberação de prostaglandinas, aumentando a contratilidade uterina, favorecendo a rotura das membranas fetais, a modificação e dilatação da cérvice e, finalmente, o parto pré-termo. A síntese de citocinas depende de controle genético. Diversos polimorfismos relacionados a genes humanos codificadores de citocinas são reconhecidos e associados a fenótipos de alta, média e baixa produção desses fatores. Assim sendo, a relação entre determinados genótipos e a ocorrência e/ou características de diferentes patologias tem sido investigada. Este tipo de abordagem pode contribuir para o conhecimento da patogenia, permitindo o reconhecimento de parâmetros preditivos e a definição de novas estratégias terapêuticas.
Preterm birth is a major obstetric incident and one of the main causes of perinatal mortality and morbidity. Among the different factors involved in its unleashing, intra-amniotic infection seems to play a central role. The infections unleash inflammatory response in both maternal and fetal tissues, mediated by the production of inflammatory cytokines. They also lead to liberation of prostaglandin, which increases myometrial contractility, favoring the rupture of fetal membrane, alteration and dilation of the cervix and, finally, preterm birth. The production of cytokines depends on genetic control. Many polymorphisms related to human genes that codify cytokines are recognized and associated with phenotypes of high, medium and low production of such factors. Thus, the relation between certain genotypes and the occurrence and/or characteristics of several pathologies has been the focus of investigations. This approach may contribute with a better understanding of the pathogenesis, allowing the identification of predictive parameters and the establishment of new intervention strategies.
Assuntos
Feminino , Gravidez , Citocinas/genética , Complicações Infecciosas na Gravidez/metabolismo , Líquido Amniótico/metabolismo , Líquido Amniótico/microbiologia , Nascimento Prematuro/genética , Nascimento Prematuro/imunologia , Nascimento Prematuro/metabolismo , Trabalho de Parto Prematuro/genética , Trabalho de Parto Prematuro/imunologia , Trabalho de Parto Prematuro/metabolismo , Componentes do Gene , Polimorfismo GenéticoRESUMO
A pré-eclâmpsia é uma forma de hipertensão exclusiva da gravidez, sendo uma das principais causas de morbimortalidade materna e perinatal em todo o mundo. Diversas evidências mostram que mecanismos imunológicos estão envolvidos em sua fisiopatologia. Neste contexto, a participação das citocinas parece exercer papel importante na ativação do processo inflamatório verificado na doença. Estes fatores estão presentes em todo o processo reprodutivo exercendo papéis tanto de ativação como de inibição de respostas celulares. A identificação dos genes que codificam a produção de diferentes citocinas e a possibilidade de ocorrência de polimorfismo destes genes, modulando eventualmente expressão clínica com padrões diferenciados, trouxe novas perspectivas para avaliar a participação destes mediadores na pré-eclâmpsia. Essa atualização descreve as principais citocinas relacionadas com a gestação e as pesquisas relacionadas aos polimorfismos de genes que codificam IL-10, IL-6, IFN-y, TGF-b e TNF-a na pré-eclâmpsia.
The pre-eclampsia is an exclusive form of hypertension in pregnancy, one of the major causes of fetal and maternal morbidity and mortality throughout the world. Several evidences show that immune mechanisms are involved in its pathogenesis. In this context, the participation of the cytokines seems to play an important role in the activation of the inflammatory process observed in the disease. These factors are present throughout the reproductive process playing a role in the activation as well as in the inhibition of cell answers. The genes identification that codifies the production of different cytokines and the possibility of occurrence of polymorphisms of these genes, modulating eventually clinical expression with differentiated patterns, brought new perspectives to evaluate the participation of these mediators in the preeclampsia. This updating describes the main cytokines related to the gestation and the researches related to the polymorphisms of genes that codify IL-10, IL-6, IFN-y, TGF-b e TNF-a in the pre-eclampsia.