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

- No association between MBL2 promoter SNPs (HL and XY) and susceptibility to TB.
- Heterozygous X/Y genotype was significantly more frequent in pulmonary TB patients.
- MBL2 exon 1 “O” allele, was associated with susceptibility to TB development.
- C allele and A/C genotype at codon 57 were associated with susceptibility to TB.
- MBL2 exon 1 SNPs, specifically at codon 57, could be considered as risk factors for TB.

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.