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