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

Heidi Lacerda Alves Da Cruz, Ronaldo Celerino Da Silva, Ludovica Segat, Márcia Schneider Zuzarte de Mendonça Gomes De Carvalho, Lucas André Cavalcanti Brandão, Rafael Lima Guimarães, Fabiana Cristina Fulco Santos, Laís Ariane Siqueira De Lira, Lilian Maria Lapa Montenegro, Haiana Charifker Schindler, Sergio Crovella

Research output: Contribution to journalArticlepeer-review


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 155. TB 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.

Original languageEnglish
Pages (from-to)323-329
Number of pages7
JournalInfection, Genetics and Evolution
Publication statusPublished - Oct 2013


  • Innate immunity
  • MBL2
  • Polymorphisms
  • Pulmonary
  • Tuberculosis

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Molecular Biology
  • Microbiology
  • Infectious Diseases
  • Microbiology (medical)


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