RESUMO
Interleukin (IL)-12 is a key factor in cell-mediated immunity that drives the development of Th1 cells and stimulates T lymphocytes and natural killer cells to produce interferon (INF)-gamma. The IL-12B gene, which encodes the p40 subunit of IL-12, is located at chromosome 5q31-33 and a linkage finding for autoimmune thyroid disease (AITD) on 5q31-33 in a Japanese population has been reported. It is also reported that the A/C polymorphism in the 3' untranslated region (UTR) of the IL-12B gene (1188A/C) is associated with IL12B mRNA expression levels. We attempted to determine whether genetic polymorphisms of the IL-12B gene are associated with AITD. One hundred three patients with Hashimoto's thyroiditis, 90 patients with Graves' disease, and 123 healthy control subjects were recruited. We detected the 1188A/C polymorphism using a PCR-RFLP method and the A/T polymorphism in intron 4 of the IL-12B gene using a cycle sequencing method. These IL-12B gene polymorphisms showed strong linkage disequilibrium, and their genotype and allele frequencies in the patients did not differ from those in the control subjects. Our results suggest that IL-12B gene polymorphisms were unlikely to have an effect on the development of Hashimoto's thyroiditis or Graves' disease in Japanese patients.
Assuntos
Doença de Graves/genética , Interleucina-12/genética , Tireoidite Autoimune/genética , Regiões 3' não Traduzidas/química , Regiões 3' não Traduzidas/genética , Antígenos CD , Antígenos de Diferenciação/genética , Antígenos de Diferenciação/imunologia , Antígeno CTLA-4 , DNA/química , DNA/genética , Feminino , Genótipo , Humanos , Interleucina-12/imunologia , Subunidade p40 da Interleucina-12 , Japão , Desequilíbrio de Ligação/genética , Desequilíbrio de Ligação/imunologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
We present a rare case of a primary intracranial melanoma originating from leptomeningeal melanoblasts in the sylvian fissure. The mass appeared hyperintense on T1-weighted MR images and hypointense on T2-weighted MR images, reflecting the presence of abundant melanin granules in the tumor. Associated leptomeningeal enhancement suggested a dire prognosis.