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  • Title: MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population.
    Author: da Cruz HL, da Silva RC, Segat L, de Carvalho MS, Brandão LA, Guimarães RL, Santos FC, de Lira LA, Montenegro LM, Schindler HC, Crovella S.
    Journal: Infect Genet Evol; 2013 Oct; 19():323-9. PubMed ID: 23524205.
    Abstract:
    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.
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