RESUMO
Our purpose, in the present work, was to further comprehend the genetic events underlying the response to steroids of human endometrium from the mRNA as well as protein expression point of view. In order to achieve this goal we undertook 10,000-oligonucleotide, three-dimensional microarray analysis, followed by immunohistochemistry, on human normal endometrium in the proliferative and secretory phases of the menstrual cycle. The results revealed that a myriad of genes involved in immune response, calcium metabolism and thyroid hormone response were frequently overexpressed in the second or luteal phase of the menstrual cycle. During the follicular phase, in contrast, overexpression of genes was mainly restricted to those encoding proteins involved in cell proliferation.
Assuntos
Endométrio/metabolismo , Análise de Sequência com Séries de Oligonucleotídeos/métodos , RNA Mensageiro/metabolismo , Feminino , Perfilação da Expressão Gênica , Humanos , Imuno-Histoquímica , Reprodutibilidade dos TestesRESUMO
Uterine leiomyoma is the most frequent pelvic tumor found in female genital tract. Some studies have suggested an association between single nucleotide polymorphisms (SNPs) in estrogen receptors genes with susceptibility in developing uterine leiomyoma. In this work, we estimated the frequency of two SNPs: one located in the intron 1 (rs9322331) and other in the exon 1 (rs17847075) of the estrogen receptor alpha (ESR1) gene in 125 women with uterine leiomyoma and 125 healthy women. To do this we used a PCR-RFLP method with MspI and HaeIII restriction enzymes to respectively detect C/T SNPs in the intron 1 and in the exon 1 of ESR1. To our knowledge this is the first study aimed to investigate the association of ESR1 SNPs with the risk of developing uterine leiomyoma in Brazilian women. Our results showed that the allele frequencies of the exon 1 and the intron 1 of the ESR1 gene did not differ between cases and controls (P = 0.325 and 0.175, respectively). Furthermore, our findings provided little support for the association of these SNPs on ESR1 with leiomyoma. However, we found that the SNP in the intron 1 of the ESR1 gene was underrepresented in the Brazilian female population.
Assuntos
Receptor alfa de Estrogênio/genética , Predisposição Genética para Doença , Leiomioma/genética , Polimorfismo Genético , Neoplasias Uterinas/genética , Adulto , Estudos de Casos e Controles , Receptor alfa de Estrogênio/metabolismo , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Polimorfismo de Fragmento de RestriçãoRESUMO
The aims of this study were: 1) to identify the type of bcl-2 rearrangement in a Brazilian group of FL patients and 2) to correlate it to clinical features, International Prognostic Index (IPI), histological subtype, response to treatment and clinical outcome. We reviewed the diagnosis of 48 patients with FL and investigated the type of bcl-2 gene rearrangement using DNA from paraffin-embedded tumor samples obtained at the time of diagnosis. In 30 cases, we also obtained consecutive peripheral blood samples to search for the presence of bcl-2/IgH rearrangement. Molecular analysis identified 41 (86%) patients with MBR and 5 (10%) patients with mcr rearrangement. In this study, the type of rearrangement was not associated with clinical characteristics or IPI. In addition, the type of rearrangement did not have an impact on response to initial treatment or on clinical outcome. However, we found an association between the type of rearrangement and the histological subtype of FL, i.e., none of mcr-positive patients presented histological grade I (p = 0.043). In this study, we could not demonstrate a relationship between the type of bcl-2 rearrangement and the response to treatment or outcome. However, we found a relationship between the type of rearrangement and FL histological subtype, information not previously reported.