Browsing by Author "Marques, A."
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- Associations between sarcoidosis clinical course and ANXA11 rs1049550 C/T, BTNL2 rs2076530 G/A, and HLA class I and II allelesPublication . Morais, A.; Lima, B.; Alves, H.; Melo, N.; Mota, P.C.; Marques, A.; Delgado, L.Background: A genetic background may be responsible for the different clinical courses in sarcoidosis. We analyzed associations between sarcoidosis clinical course and HLA class I/II alleles and susceptibility gene SNPs ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A in a Portuguese population, investigating possible gene–gene interactions. Methods: We studied 138 unrelated Caucasian sarcoidosis patients (78 women, 56.5%; mean age, 37.2 ± 12.1 years). Disease that persisted after 2 years was considered chronic. Samples were genotyped for ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A SNPs using TaqMan Real-Time PCR Assays. HLA class I/II alleles were typed using PCR sequence-specific primers. Results: Sixty-six patients experienced disease resolution and 72 (52%) developed chronic disease. Comparison of rs1049550 and rs2076530 allele frequencies showed no significant differences. Only the HLA DRB1*03 allele was significantly associated with disease resolution (21.2% vs 4.9% for chronic disease; RR = 0.35; P < .01 after Bonferroni correction). In the logistic regression models evaluating the association between HLA alleles and chronic sarcoidosis adjusted for rs1049550 and rs2076530, only DRB1*03 was significantly associated with disease resolution. No significant interactions were found in any of the logistic regression analyses. Conclusions: In this population of Caucasian patients with sarcoidosis, only DRB1*03 was associated with disease resolution after 2 years’ follow-up, with no significant interactions found for susceptibility gene SNPs ANXA11 rs1049550 or BTNL2 rs2076530.
- Tuberculosis in a shopping centre, Portugal, 2004-5Publication . Duarte, R.; Miranda, A.; Braga, R.; Carvalho, A.; Rola, J.; Marques, A.; Barros, H.Genotyping enables to confirm or exclude a tuberculosis (TB) cluster. Excluding the link between cases is particularly important in countries with intermediate/high incidence of TB where the emergence of several TB cases in a particular location in space or time (higher than the expected) could be explained by chance alone. During 2004 and 2005, five TB cases occurred in five shops of a Portuguese shopping centre which employed a total of about 1000 workers. After an epidemiological survey, 52 close contacts were identified and screened. Latent tuberculosis infection was diagnosed in 10 contacts (eight family members and two work colleagues of cases). Genotyping of the Mycobacterium tuberculosis isolates revealed no link between the cases. For this reason no screening of all staff of the shopping centre was carried out. However, close contacts (52) and all fellow workers (1000) were kept under surveillance for two years, and no additional cases were diagnosed. The present analysis demonstrates that the exclusion of a chain of ongoing transmission by genotyping for the investigation of a cluster is cost-effective from the perspective of the public health service, because it allows to avoid unnecessary large scale screening operation and instead to direct resources to more effective measures of TB control.