RESUMO
Identifying genetic determinants for lung function is important in providing insight into the pathophysiology of asthma. The Wnt signal pathway plays a role in lung development and in asthma pathogenesis. However, whether genetic polymorphisms of Wnt signal pathway are associated with lung function in asthma patients remain unclear. We genotyped 2 single nucleotide polymorphisms (SNPs, rs2929973 and rs6581612) involved in the Wnt signal pathway in a cohort of 560 Chinese Han asthmatic children. Associations between each SNP and lung function, in a baseline exam, were tested using multiple linear regression models. We found that rs2929973 of the WISP1 gene was significantly associated with forced expiratory volume in 1 s (FEV1), with the G allele conferring significantly lower FEV1 values. However, the rs6581612 SNP of the WIF1 gene was not associated with differences in FEV1 values. We conclude that genetic variants in Wnt are associated with lung function and suggest that Wnt participates in inflammatory pathways that have an impact on the level of lung function.
Assuntos
Asma/genética , Asma/fisiopatologia , Variação Genética , Pulmão/fisiopatologia , Via de Sinalização Wnt/genética , Criança , Pré-Escolar , Feminino , Volume Expiratório Forçado/genética , Frequência do Gene/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Testes de Função RespiratóriaRESUMO
We describe a 49-year-old patient with lip biopsy proven Sjögren's syndrome (SS) and keratoconjunctivitis sicca, who had dental caries, xerostomia, recurrent upper respiratory tract infections, arthritis in her hands, elbows and knees, and recurrent parotid inflammation. She developed bilateral breast nodules in 1988. Right breast nodules were excised in 1993 and 1995, but reappeared in 1996, requiring 2 more excisions. Breast tissue samples showed remarkable intralobular and perilobular mononuclear cell infiltrates that were predominantly CD4+ T cells and expressed bcl-2. A few cells stained CD20+ and CD8+. SS breast glandular epithelial cells stained more intensely for Fas compared to normal cells. CD4+ T cells and Fas mediated cell death may be involved in the mammary gland lesions in SS.