RESUMO
INTRODUCCIÓN: en la enfermedad celiaca (EC), la activación de la respuesta inmune lleva a una alteración de la red local de citoquinas. La IL-10 es una citoquina antiinflamatoria esencial en la prevención de patologías inflamatorias. OBJETIVO: analizar la asociación de polimorfismos de nucleótido simple ubicados en el promotor del gen de interleuquina 10 con la EC, en una población de la provincia de Misiones, Argentina. PACIENTES Y MÉTODOS: se extrajo ADN de sangre entera de 40 pacientes con EC y de 80 controles y se amplificó una región en el promotor del gen de IL10 que contiene los polimorfismos rs1800896A/G, rs1800871T/C y rs1800872A/C. Se estableció el riesgo mediante el cálculo de odds ratios (OR), considerando estadísticamente significativo un p < 0,05. RESULTADOS: entre pacientes celiacos y controles no se observaron diferencias significativas en la distribución de los genotipos del polimorfismo rs1800896. La frecuencia de los genotipos CC de rs1800871T/C y rs1800872A/C fue menor en los celiacos (35 % vs. 65 %; p = 0,002). Presentaron riesgo de EC los portadores del alelo menos frecuente T del rs1800871T/C y del alelo menos frecuente A del rs1800872A/C con un modelo dominante (OR = 2,79; IC 95 %: 1,27-6,09; p = 0,01). Se encontró un efecto de riesgo del haplotipo ATA (OR = 3,05; IC 95 %: 1,25-7,46; p = 0,01). CONCLUSIÓN: los portadores del alelo menos frecuente T del rs1800871T/C y del alelo menos frecuente A del rs1800872A/C en el promotor del gen IL10 presentan riesgo elevado de EC con un modelo dominante, sin mostrar riesgo para el rs1800896A/G. El haplotipo ATA muestra asociación para el desarrollo de EC
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Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Receptores de Interleucina-10/genética , Doença Celíaca/sangue , Doença Celíaca/genética , Polimorfismo Genético , Regiões Promotoras Genéticas , Razão de Chances , Estudos de Casos e Controles , Imunoglobulina A/análise , Imunoglobulina A/sangue , DNA/genética , Haplótipos/genética , Predisposição Genética para Doença/genéticaRESUMO
INTRODUCTION: in celiac disease (CD), immune response activation results in local cytokine network impairment. Interleukin 10 (IL-10) is a key anti-inflammatory cytokine in the prevention of inflammatory conditions. OBJECTIVE: to analyze the association of single nucleotide polymorphisms in the IL-10 gene promoter region with CD in a population of Misiones Province, Argentina. PATIENTS AND METHODS: DNA from whole blood was extracted from 40 patients with CD and 80 controls and the IL-10 gene promoter region containing polymorphisms rs1800896A/G, rs1800871T/C and rs1800872A/C was amplified. Risk was established by calculating odds ratios (OR) and statistical significance was considered as p < 0.05. RESULTS: there were no significant differences in rs1800896 genotype distribution between celiac patients and controls. The frequency of the CC genotype for rs1800871T/C and rs1800872A/C was lower among celiac patients (35 % vs 65 %; p = 0.002). CD risk was associated with carriers of the more uncommon T allele of rs1800871T/C and the more uncommon A allele of rs1800872A/C, with a dominant model (OR = 2.79; 95 % CI: 1.27-6.09; p = 0.01). A risk effect was found for haplotype ATA (OR = 3.05; 95 % CI: 1.25-7.46; p = 0.01). CONCLUSION: carriers of the less common T allele of rs1800871T/C and the less common A allele of rs1800872A/C in the IL-10 gene promoter are at high risk of CD with a dominant model. There was no risk for rs1800896A/G. The ATA haplotype showed an association with CD development.
Assuntos
Doença Celíaca , Interleucina-10 , Regiões Promotoras Genéticas , Estudos de Casos e Controles , Doença Celíaca/genética , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Interleucina-10/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Methylation pattern is presented here for first time as a potential molecular marker of changes on SSTR2A and SHP-1(I) gene promoter related to breast and prostate carcinoma. Our results have shown low concordances with SSTR2A and methylated state in prostate cancer and moderate relationship with unmethylated CpG-27 in breast cancer. We found significant concordances for both cancers and SHP-1(I) unmethylation, and increased HER2 expression and SSTR2A methylation in breast cancer. Moreover, we found a correlation between methylation patterns of two genes in normal breast tissue. These data might assist to select subgroups of patients for the administration of alternative therapies.
Assuntos
Biomarcadores Tumorais/genética , Neoplasias da Mama/genética , Metilação de DNA , Neoplasias da Próstata/genética , Proteína Tirosina Fosfatase não Receptora Tipo 6/genética , Receptores de Somatostatina/genética , Idoso , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Regiões Promotoras Genéticas , Neoplasias da Próstata/metabolismo , Neoplasias da Próstata/patologia , Isoformas de Proteínas , Receptores de Somatostatina/metabolismoRESUMO
Prostate proliferation is dependent of androgens and many peptide hormones. Recent reports suggest that SSTR2 and SHP-1 were two fundamental components on antiproliferative effect of somatostatin. Many studies on SHP-1 revealed that the expression of this protein was diminished or abolished in several of the cancer cell lines and tissues examined. However, it is necessary to confront the cell lines data with real situation in cancer cases. Our studies have shown that epithelial expressions of both proteins, SHP-1 and SSTR2, in normal and benign hyperplasia are localized in the luminal side of duct and acinar cells. Also, SSTR2 is expressed in stromal cells. In malignant prostate tissue, SHP-1 was diminished in 28/45 cases or absent in 12/45 cases, whereas SSTR2 epithelial was diminished in 38/45 cases or lost in only 2/45 cases. The intensity of immunostained was highly negative correlated with Gleason grade for two proteins.
