RESUMO
Latent tuberculosis infection (LTBI) is a condition that has no clinical signs and symptoms. LTBI patients are characterized by persistent immune responses to Mycobacterium tuberculosis, and approximately 5-10% of these infected individuals will develop active TB at some point in their lives. The antigen transporter associated with antigen processing (TAP1) is a protein involved in the transport of the antigen from the cytoplasm to the endoplasmic reticulum by means of the association with MHC class I molecules. It plays a fundamental role in the immune response, promoting the clearance of intracellular pathogens. Our pilot study aimed to determine the association between TAP1 gene 1177A>G (rs1057141) and 2090A>G (rs1135216) genetic polymorphisms with susceptibility to LTBI. In this case-control study, 153 individuals from shelters were analyzed (46 were LTBI-positive and 92 were controls). Genotyping of the rs11352216 (2090A>G) and rs1057141 (1177A>G) gene IDs was performed using the Applied Biosystems Step One Thermal Cycler Real-Time PCR allelic discrimination technology. The haplotypic analyses were performed with the Arlequin 3.5 program. Social assistance centers and shelters that serve vulnerable populations represent high-risk sites due to overcrowding and the impaired nutritional status of their residents. The G allele (OR=1.99, CI=1.109-3.587, p=0.021) and the GG genotype of rs11352216 (A>G) were associated with susceptibility to LTBI, according to the codominant genetic model (OR=8.32, CI=1.722-61.98, p=0.007). The rs1057141 (A>G) polymorphism was not associated with LTBI risk. The results suggest that carriers of the G allele of rs1135216 (A>G) are susceptible to LTBI.
Assuntos
Tuberculose Latente , Mycobacterium tuberculosis , Membro 2 da Subfamília B de Transportadores de Cassetes de Ligação de ATP/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Humanos , Tuberculose Latente/genética , México , Projetos Piloto , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: Recurrent respiratory papillomatosis (RRP) is a respiratory tract disease that affects children and adults and is characterized by the recurrent proliferation of multiple papillomas. The etiologic agent is the human papillomavirus, mainly genotypes 6 and 11. Furthermore, polymorphisms in TAP1 appear to influence the selection of antigenic peptides and the transport process to the rough endoplasmic reticulum, for their subsequent presentation to T lymphocytes, an essential process against viral diseases and tumor processes. Previous studies have shown that individuals with those polymorphisms are susceptible to immune, infectious, and tumor-related diseases. The present study aimed to determine the association between the TAP1 rs1057141 (c.1177A>G) and rs1135216 (c.2090A>G) single nucleotide polymorphisms (SNPs) and RRP. METHODS: A case-control study was carried out on a group of 70 individuals (35 controls and 35 patients). RRP diagnosis, HPV genotyping, and viral load were determined through histology and PCR. SNPs rs1057141 and rs1135216 were identified through allelic discrimination, using real-time PCR. The haplotypic analyses were performed using the Arlequin 3.5 program. RESULTS: HPV-6 and HPV-11 were the genotypes found in the samples. In the polymorphism analysis, rs1057141 showed no significant differences (p = 0.049, CI = 0.994-7.331). In contrast, a significant difference was found in rs1135216 (p = 0.039, OR = 2.4) in the allelic analysis, as well as in the dominant (p = 0.027, OR = 3.06), codominant (p = 0.033, OR = 3.06), and additive model (p = 0.043, OR = 2.505) in subjects with the G allele. CONCLUSION: The G allele in rs1135216 was associated with a genetic risk of susceptibility for RRP in a population in Western Mexico.
Assuntos
Membro 2 da Subfamília B de Transportadores de Cassetes de Ligação de ATP/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Infecções por Papillomavirus/genética , Polimorfismo de Nucleotídeo Único/genética , Infecções Respiratórias/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Frequência do Gene/genética , Haplótipos/genética , Humanos , Lactente , Padrões de Herança/genética , Masculino , México , Pessoa de Meia-Idade , Modelos Genéticos , Projetos Piloto , Adulto JovemRESUMO
Entre los efectos no clásicos de la Vitamina D destaca su asociación con el sistema cardiovascular y su disminución, se relaciona con factores de riesgo que definen al Síndrome Metabólico (SM). Es por ello que el objetivo de este estudio fue evaluar los niveles de Vitamina D en pacientes con SM y relacionarlos con sus componentes. Fueron estudiados 31 individuos con SM que acudieron a consultas de medicina interna en el Instituto Venezolano de Seguro Social Dr. Luis Guada Lacau y el Ambulatorio Urbano Dr. Miguel Franco del Municipio Naguanagua, Edo. Carabobo durante el primer trimestre del año 2011. A los mismos les fueron medidos los niveles de 25-(OH)-Vitamina D, circunferencia abdominal, presión arterial, perfil lipídico y glicemia, así como los índices aterogénicos y la relación TG/HDL-c. 54% de los participantes presentó niveles insuficientes de Vitamina D, asociándose estadísticamente a LDL-c elevado (chi-cuadrado=3,77; p-valor=0,052), mostrando además una correlación media y positiva con los valores de esta lipoproteína (r=0.3813; p-valor=0.0350) y con la relación LDL-c/HDL-c (r=0.3820; p-valor=0,0340). No se encontraron diferencias estadísticamente significativas entre los parámetros evaluados al dividir la muestra según la presencia o no de insuficiencia de vitamina D (prueba t de Student y Prueba de Wilcoxon-U-Mann Whitney). Los resultados obtenidos confirman la hipótesis de que la hipovitaminosis D puede ser considerada como un factor de riesgo para desarrollar SM, sugiriendo la realización de futuras investigaciones que contribuyan a profundizar la participación de la insuficiencia de esta vitamina y su posible interacción con otros factores no clásicos de riesgo cardiovascular(AU)
Among the nonclassical effects of vitamin D highlights its association with cardiovascular system, strongly associating your decline to risk factors that define the metabolic syndrome (MS). That is why the aim of this study was to assess vitamin D levels in patients with MS and link components. Was study 31 subjects with MS attending internal medicine clinics at the Venezuelan Institute of Social Security, Dr. Luis Guada Lacau and the Ambulatory Urban Dr. Miguel Franco of Naguanagua, Edo. Carabobo during the first quarter of 2011. At the same they were measured the levels of 25 - (OH)-vitamin D, waist circumference, blood pressure, lipid profile and glucose, and the atherogenic index and the ratio TG/HDL-c. 54% of participants had insufficient levels of Vitamin D, associated statistically elevated LDL-c (chi-square=3.77, p-value=0.052), also showing average and positive correlation with the values of this lipoprotein (r=0.3813, p-value=0.0350) and LDL-C/HDL-C relationship (r=0.3820, p-value=0.0340). No statistically significant differences were found between the parameters evaluated by dividing the sample according to the presence or absence of vitamin D insufficiency (Students t and Wilcoxon- U Mann-Whitney test). The results confirm the hypothesis that vitamin D deficiency may be considered a risk factor for developing MS, suggesting future conducting research that contributes to deepen the involvement of the failure of this vitamin and its possible interaction with other factors nonclassical cardiovascular risk(AU)