TY - JOUR
T1 - MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population
AU - Da Cruz, Heidi Lacerda Alves
AU - Da Silva, Ronaldo Celerino
AU - Segat, Ludovica
AU - De Carvalho, Márcia Schneider Zuzarte de Mendonça Gomes
AU - Brandão, Lucas André Cavalcanti
AU - Guimarães, Rafael Lima
AU - Santos, Fabiana Cristina Fulco
AU - De Lira, Laís Ariane Siqueira
AU - Montenegro, Lilian Maria Lapa
AU - Schindler, Haiana Charifker
AU - Crovella, Sergio
PY - 2013/10
Y1 - 2013/10
N2 - 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.
AB - 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.
KW - Innate immunity
KW - MBL2
KW - Polymorphisms
KW - Pulmonary
KW - Tuberculosis
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U2 - 10.1016/j.meegid.2013.03.002
DO - 10.1016/j.meegid.2013.03.002
M3 - Article
C2 - 23524205
AN - SCOPUS:84885170834
SN - 1567-1348
VL - 19
SP - 323
EP - 329
JO - Infection, Genetics and Evolution
JF - Infection, Genetics and Evolution
ER -