RESUMO
PURPOSE OF THE STUDY: Co-stimulatory molecules CD80 and CD86 are the members of B7 family, which stimulate the T lymphocytes in response to the malignant colon polyps. However, the expression of these molecules is depressed in cancers. In the present study, the transcription levels of CD80 and CD86 genes in the colon polyps (Precancerous lesions) and its association with the clinical features were examined. PATIENTS AND METHODS: Forty-nine biopsies samples from patients with the colorectal polyps and 10 healthy subjects were collected by the colonoscopy. Questionnaires including clinical and demographic data were filled for all cases. Using Real-time PCR, the mucosal mRNA expression levels of CD80 and CD86 genes were quantified. RESULTS: Adenoma and hyperplastic polyps were reported in 69.3 and 30.7 percent of 49 patients, respectively. Unlike hyperplastic polyps, the expression of CD86 was increased in adenoma polyps compared to controls (RQ=2.75 vs. 0.837, respectively). The data from CD80 showed noticeable reduction about 0.31 and 0.11 in adenoma and hyperplastic polyps, respectively, in response to control group (RQ=0.729). Also, analyzing colon and rectum polyps depicted a marked increment in CD86 level, in contrast to CD80. CONCLUSION: Examining the mRNA expression levels of CD80 and CD86 genes between colon polyps with the rectal polyps shows that the enhanced level of CD86 in adenoma samples could be considered as a valuable biomarker for distinguishing the adenoma from hyperplastic polyps and the masses located in the colon from the rectum.
Assuntos
Antígeno B7-1/genética , Antígeno B7-2/genética , Colo/patologia , Pólipos do Colo/genética , Pólipos do Colo/patologia , Adenoma/diagnóstico , Adenoma/genética , Adenoma/metabolismo , Adenoma/patologia , Adulto , Antígeno B7-1/metabolismo , Antígeno B7-2/metabolismo , Biomarcadores/metabolismo , Biópsia , Estudos de Casos e Controles , Colo/metabolismo , Pólipos do Colo/diagnóstico , Pólipos do Colo/metabolismo , Colonoscopia , Diagnóstico Diferencial , Feminino , Humanos , Hiperplasia/diagnóstico , Hiperplasia/genética , Hiperplasia/metabolismo , Hiperplasia/patologia , Masculino , Gradação de Tumores , Neoplasias Retais/genética , Neoplasias Retais/metabolismo , Neoplasias Retais/patologia , Reto/metabolismo , Reto/patologiaRESUMO
Interleukin-16 (IL-16) is a multifunctional pro-inflammatory cytokine that was previously found in association with complex disorders, and it is now cleared that this cytokine plays a critical role in regulation of cellular functions such as homoeostasis. Due to the complexity of endometriosis and its resemblance to cancer, we designed present case-control study to determine the effects of genetic polymorphisms of the human IL-16 gene on Iranian women's susceptibility to endometriosis. A total of 126 patients with endometriosis (stages I-IV) and 144 healthy women as control group were recruited to the study. We genotyped four single nucleotide polymorphisms of IL-16 gene (rs11556218 T>G, rs4778889 T>C, rs4072111 C>T and rs1131445 C>T). Genotyping was performed using PCR and restriction fragment length polymorphism. Our results showed that genotype distribution in two exonic polymorphisms including rs11556218 and rs4072111 was significantly different between Endometriosis patients and healthy individuals (P < 0.05). We have also found an association between rs4072111 and rs1131445 with progression to the severe stages (III-IV) of endometriosis (P < 0.05). Finally, we may conclude that IL-16 gene polymorphisms are highly associated with increased risk of endometriosis and could be considered as a susceptibility factor for endometriosis.
Assuntos
Endometriose/genética , Predisposição Genética para Doença/genética , Interleucina-16/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Casos e Controles , Endometriose/patologia , Feminino , Frequência do Gene , Genótipo , Humanos , Irã (Geográfico) , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Índice de Gravidade de Doença , Adulto JovemRESUMO
Nuclear receptor subfamily 5 group A member 1 (NR5A1) encodes a nuclear receptor that regulates transcription of multiple genes involved in adrenal and gonadal development, steroidogenesis and the reproductive axis. Human mutations in NR5A1were initially found in two 46, XY female patients suffering from severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in NR5A1 may also contribute to the male infertility aetiology. We have analysed the coding sequence of NR5A1 in a cohort of 90 well-characterised idiopathic Iranian azoospermic infertile men versus 112 fertile men. Heterozygous NR5A1 mutations were found in 2 of 90 (2.2%) of cases. These two patients harboured missense mutations within the hinge region (p.P97T) and ligand-binding domain (p.E237K) of the NR5A1 protein. In silico analysis of the mutations showed that founded mutations could be detrimental. In conclusion, findings of the current and previous studies suggest that mutations in the NR5A1 gene are not common in azoospermia, and male infertility and inclusion of NR5A1 mutation screening in the diagnostic workup of male infertility may seem unnecessary.
