title: MBL2 gene polymorphisms and susceptibility to tuberculosis in a northeastern Brazilian population.
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.
authors.affiliation: Department of Immunology, Aggeu Magalhães Research Center-CPqAM/FIOCRUZ, Av. Prof. Moraes Rego, s/n°, CEP 50.670-420 Recife, Pernambuco, Brazil.
authors.forename: Heidi Lacerda Alves
authors.initials: HL
authors.lastname: da Cruz
authors.forename: Ronaldo Celerino
authors.initials: RC
authors.lastname: da Silva
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: Márcia Schneider Zuzarte de Mendonça Gomes
authors.initials: MS
authors.lastname: de Carvalho
authors.forename: Lucas André Cavalcanti
authors.initials: LA
authors.lastname: Brandão
authors.forename: Rafael Lima
authors.initials: RL
authors.lastname: Guimarães
authors.forename: Fabiana Cristina Fulco
authors.initials: FC
authors.lastname: Santos
authors.forename: Laís Ariane Siqueira
authors.initials: LA
authors.lastname: de Lira
authors.forename: Lilian Maria Lapa
authors.initials: LM
authors.lastname: Montenegro
authors.forename: Haiana Charifker
authors.initials: HC
authors.lastname: Schindler
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology / Q000235:genetics; D055815:Young Adult
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin
keywords: Innate immunity; MBL2; Polymorphisms; Pulmonary; Tuberculosis