DEFB1 gene polymorphisms and tuberculosis in a Northeastern Brazilian population

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)

Evaluation of a nested-pcr for Mycobacterium tuberculosis detection in blood and urine samples

The polymerase chain reaction (PCR) and its variations, such as the nested-PCR, have been described as promising techniques for rapid diagnosis of tuberculosis (TB). With the aim of evaluating the usefulness of a nested-PCR method on samples of blood and urine of patients suspected of tuberculosis we analyzed 192 clinical samples, using as a molecular target the insertion element IS6110 specific of M. tuberculosis genome. Nested-PCR method showed higher sensitivity in patients with extrapulmonary tuberculosis (47.8% and 52% in blood and urine) when compared to patients with the pulmonary form of the disease (sensitivity of 29% and 26.9% in blood and urine), regardless of the type of biological sample used. The nested-PCR is a rapid technique that, even if not showing a good sensitivity, should be considered as a helpful tool especially in the extrapulmonary cases or in cases where confirmatory diagnosis is quite difficult to be achieved by routine methods. The performance of PCR-based techniques should be considered and tested in future works on other types of biological specimens besides sputum, like blood and urine, readily obtainable in most cases. The improving of M. tuberculosis nested-PCR detection in TB affected patients will give the possibility of an earlier detection of bacilli thus interrupting the transmission chain of the disease

Diferenciação de micobactérias por PCR multiplex

O trabalho visou à otimização de um método baseado na reação em cadeia da polimerase multiplex - para diferenciação de micobactérias de interesse para a saúde pública. A PCR Multiplex baseou-se na amplificação simultânea do genehsp65, presente em todo gênero Mycobacterium, do gene dnaJ, presente apenas em Mycobacterium tuberculosis e Mycobacterium avium e da sequência de inserção IS6110 presente no complexo Mycobacterium tuberculosis, gerando amplicons de 165pb, 365pb e 541pb, respectivamente. O limite de detecção foi de 1fg para o alvo hsp65, 100pg para o dnaJ e 0,1fg para o IS6110. A PCR multiplex detectou até 100pg de DNA de Mycobacterium tuberculosis. O sistema demonstrou ser específico e sensível na detecção de Mycobacterium tuberculosis, Mycobacterium bovis, Mycobacterium avium e Mycobacterium smegmatis. Os resultados obtidos utilizando cepas de referência demonstraram que a PCR multiplex pode ser uma ferramenta rápida, sensível e específica na diferenciação de micobactérias

The performance of an in-house nested-PCR technique for pleural tuberculosis diagnoses

Submitted by Kamylla Nascimento ([email protected]) on 2017-12-11T12:03:54Z No. of bitstreams: 1 art. The Performance - montenegro.pdf: 788710 bytes, checksum: 78b6665e69363b833df61e5eb1eb9977 (MD5)Approved for entry into archive by Kamylla Nascimento ([email protected]) on 2017-12-11T12:20:35Z (GMT) No. of bitstreams: 1 art. The Performance - montenegro.pdf: 788710 bytes, checksum: 78b6665e69363b833df61e5eb1eb9977 (MD5)Made available in DSpace on 2017-12-11T12:20:35Z (GMT). No. of bitstreams: 1 art. The Performance - montenegro.pdf: 788710 bytes, checksum: 78b6665e69363b833df61e5eb1eb9977 (MD5) Previous issue date: 2013Este estudo recebeu apoio financeiro do Centro de Pesquisa Aggeu Magalhães - FIOCRUZ e do Programa de Desenvolvimento Tecnológico em Suprimentos de Saúde (PDTIS).Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Hospital Barão de Lucena. Departamento de Clínica Médica. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Hospital Geral Otávio de Freitas. Recife, PE, Brasil.Hospital Barão de Lucena. Departamento de Clínica Médica. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.This study evaluated the performance of an in-house nested-PCR system for the detection of the Mycobacterium tuberculosis complex in pleural fluid, blood and urine samples from pleural effusion tuberculosis patients by health services physicians in Pernambuco, Brazil

MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population

Submitted by Kamylla Nascimento ([email protected]) on 2017-12-14T12:28:35Z No. of bitstreams: 1 art. MBL2 gene polymorphisms - cruz.pdf: 271733 bytes, checksum: 2f9b6ce53f099094eda50800d4c5963f (MD5)Approved for entry into archive by Kamylla Nascimento ([email protected]) on 2017-12-14T12:46:20Z (GMT) No. of bitstreams: 1 art. MBL2 gene polymorphisms - cruz.pdf: 271733 bytes, checksum: 2f9b6ce53f099094eda50800d4c5963f (MD5)Made available in DSpace on 2017-12-14T12:46:20Z (GMT). No. of bitstreams: 1 art. MBL2 gene polymorphisms - cruz.pdf: 271733 bytes, checksum: 2f9b6ce53f099094eda50800d4c5963f (MD5) Previous issue date: 2013Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Federal University of Pernambuco. Department of Genetics. Recife, PE, Brazil / Federal University of Pernambuco. Laboratory of Immunopathology Keizo Asami. Recife, PE, Brazil.Institute for Maternal and Child Health. Trieste, Italy.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil / Federal University of Pernambuco. Department of Genetics. Recife, PE, Brazil.Federal University of Pernambuco. Laboratory of Immunopathology Keizo Asami. Recife, PE, Brazil / Federal University of Pernambuco. Department of Pathology. Recife, PE, Brazil.Federal University of Pernambuco. Department of Genetics. Recife, PE, Brazil / Federal University of Pernambuco. Laboratory of Immunopathology Keizo Asami. Recife, PE, Brazil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de imunologia. Recife, PE, Brasil.Institute for Maternal and Child Health. Trieste, Italy.The innate immune system represents the first line of host defense against pathogens. Genetics factors regulating the immune responses play a role in the susceptibility to infectious diseases, such as tuberculosis (TB). We analyzed MBL2 promoter and exon 1 functional single nucleotide polymorphisms (SNPs) in a group of 155TB patients and 148 healthy controls in order to evaluate their influence on the onset of infection and TB development. There was no association between MBL2 -550 HL promoter polymorphisms and susceptibility to develop TB, but heterozygous -221 Y/X genotype was significantly more frequent in pulmonary TB patients than controls. Moreover, MBL2 exon 1 O allele, was significantly associated with susceptibility to TB development in general (p=0.023, OR=1.61, 95% CI 1.05-2.49) and pulmonary TB (p=0.0008, OR=2.16, 95% CI 1.35-3.46); C allele at codon 57, as well as A/C genotype, were significantly more frequent in TB patients than in controls. Our results indicate that MBL2 polymorphisms, especially at codon 57, could be considered as risk factors for TB development

Mannose-Binding Lectin2 Gene Polymorphism and IgG4 in Membranous Nephropathy

BACKGROUND: Idiopathic membranous nephropathy (IMN) has been linked to the lectin pathway, IgG4 and genetic susceptibility. We investigated the frequency of mannose-binding lectin2 (MBL2) gene polymorphisms and the serum ratio of IgG4 in patients with membranous nephropathy (MN). METHODS: Polymorphisms in the exon 1 of the MBL2 gene (codons 52, 54, and 57) and single base polymorphisms at positions -550 (HL) and -221 (XY) in the promoter region were evaluated in 60 patients compared to a control group (CG) of 101 blood donors. It established the frequency of polymorphisms and the serum ratio of IgG4 comparing 2 etiologies of MN: idiopathic (35 patients) and secondary to systemic lupus erythematosus (25 patients). RESULTS: Patients with MN had a 2.54-fold higher probability (95% CI 1.51-4.31) of carrying the O alelle, exon 1 variant, and 11.16-fold higher probability (95% CI 4.77-28.41) of having A/O genotype when compared to CG. The frequency of polymorphisms in the promoter region was similar between the groups. Combined genotypes generally related to the defective production of MBL (YA/O, XA/O and O/O) were more frequent in patients with MN (OR 7.11; 95% CI 2.69-21.27), when compared to controls. The median of serum ratio IgG4 was 5% for idiopathic MN and 3% for lupus MN patients (p = 0.016). CONCLUSIONS: Our data suggests that MBL2 polymorphisms may be associated with the activation of the lectin pathway by IgG4 subclass antibodies in MN