RESUMO
BACKGROUND: Chronic rhinosinusitis (CRS) is a multifaceted disease with a significant genetic component. The importance of taste receptor signaling has recently been highlighted in CRS; single nucleotide polymorphisms (SNPs) of bitter tastant-responsive G-protein-coupled receptors have been linked with CRS and with altered innate immune responses to multiple bacterially derived signals. OBJECTIVE: To determine in CRS the frequency of six SNPs in genes with known bitter tastant signaling function. METHODS: Genomic DNA was isolated from 74 CRS volunteers in West Virginia, and allele frequency was determined and compared with demographically matched data from the 1,000 Genomes database. RESULTS: For two SNPs in a gene recently associated with bitterant signaling regulation, RGS21, there were no associations with CRS (although the frequency of the minor allele of RGS21, rs7528947, was seen to increase with increasing Lund-Mackay CT staging score). Two TAS2R bitter taste receptor gene variants (TAS2R19 rs10772420 and TAS2R38 rs713598), identified in prior CRS genetics studies, were found to have similar associations in this study. CONCLUSION: Unique to our study is the establishment of an association between CRS in this patient population and GNB3 SNP rs5443, a variation in an established G protein component downstream of bitterant receptor signal transduction.
Assuntos
Proteínas Heterotriméricas de Ligação ao GTP/genética , Polimorfismo de Nucleotídeo Único , Receptores Acoplados a Proteínas G/genética , Rinite/diagnóstico , Rinite/genética , Sinusite/diagnóstico , Sinusite/genética , Adulto , Idoso , Alelos , Doença Crônica , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Rinite/imunologia , Fatores de Risco , Sinusite/imunologiaRESUMO
Background: Renal cell carcinoma (RCC) accounts for over 80% of malignant tumors arising from the kidney. However, metastatic RCC to the head and neck is a relatively rare entity. Case Presentation: We describe three patients with metastatic RCC to the head and neck with the involvement of the parapharyngeal space, the level V region of the neck, and the maxillary sinus. Conclusion: Metastatic RCC in the head and neck is uncommon; however, it must be taken into consideration given a patient with a history of RCC. Multiple pathways allow for the spread of RCC to the head and neck region. Treatment options include mastectomy or local radiation and systemic chemotherapy.
