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| Silva,Ronaldo Celerino da; Cruz,Heidi Lacerda Alves da; Brandão,Lucas André Cavalcanti; Guimarães,Rafael Lima; Montenegro,Lilian Maria Lapa; Schindler,Haiana Charifker; Segat,Ludovica; Crovella,Sergio. |
| Abstract β-Defensin-1, an antimicrobial peptide encoded by the DEFB1 gene, is known to play an important role in lung mucosal immunity. In our association study we analyzed three DEFB1 functional polymorphisms -52G>A (rs1799946), -44C>G (rs1800972) and -20G>A (rs11362) in 92 tuberculosis patients and 286 healthy controls, both from Northeast Brazil: no association was found between the studied DEFB1 polymorphisms and the disease. However we cannot exclude that this lack of association could be due to the low number of subjects analyzed, as suggested by the low statistical power achieved for the three analyzed SNPs (values between 0.16 and 0.50). |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tuberculosis; Innate immunity; DEFB1; Genotyping; Polymorphism. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822016000200389 |
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| Polesello,Vania; Segat,Ludovica; Biasotto,Matteo; Ottaviani,Giulia; Gobbo,Margherita; Di Lenarda,Roberto; Crovella,Sergio; Zupin,Luisa. |
| Abstract Oral Lichen Planus (OLP) is an oral inflammatory condition, mediated by host immune system reaction, presenting basal membrane damages with inflammatory lesions in the mouth and/or skin. In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of the innate immune response and an acute-phase protein able to activate the complement cascade, was investigated to assess a possible association with OLP susceptibility in Italian patients. Two variations at the promoter region (called H/L and X/Y) and three at the first exon (at codon 52, 54, and 57) of the MBL2 gene were analyzed in 69 OLP patients and 244 healthy controls from northeastern Italy. Considering the polymorphisms... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mannose-Binding Protein-C; MBL2; Oral Lichen Planus; Polymorphisms. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100009 |
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| Zupin,Luisa; Polesello,Vania; Kamada,Anselmo Jiro; Gratton,Rossella; Segat,Ludovica; Kuhn,Louise; Crovella,Sergio. |
| Abstract Perforin-1, a component of the immune system, is able to control Human Immunodeficiency Virus-1 (HIV-1) replication and could be involved in HIV-1 mother-to-child transmission (MTCT). This study aims at evaluating the role of the c.900C > T PRF1 gene (encoding for perforin-1) polymorphism (rs885822) in HIV-1 MTCT. The PRF1 c.900C > T polymorphism was genotyped in 331 children from Zambia using a Taqman probe on a Real Time PCR platform. The PRF1 c.900C > T C/T genotype was more frequent among HIV-1 exposed but non-infected children than in HIV-1 positive cases, and the results were confirmed among children infected during breastfeeding. PRF1 c.900C > T correlated with protection against HIV-1 MTCT, suggesting its role in HIV-1 vertical... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: PRF1; Perforin; HIV-1 susceptibility. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400574 |
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