title: DEFB1 gene polymorphisms and tuberculosis in a Northeastern Brazilian population.
abstract: β-Defensin-1, an antimicrobial peptide encoded by the DEFB1 gene, is known to play an important role in lung mucosal immunity. In our association study we analyzed three DEFB1 functional polymorphisms -52G>A (rs1799946), -44C>G (rs1800972) and -20G>A (rs11362) in 92 tuberculosis patients and 286 healthy controls, both from Northeast Brazil: no association was found between the studied DEFB1 polymorphisms and the disease. However we cannot exclude that this lack of association could be due to the low number of subjects analyzed, as suggested by the low statistical power achieved for the three analyzed SNPs (values between 0.16 and 0.50).
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil. Electronic address: ronaldocelerino@yahoo.com.br.
authors.forename: Ronaldo
authors.initials: R
authors.lastname: Celerino da Silva
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Heidi Lacerda Alves
authors.initials: HL
authors.lastname: da Cruz
authors.affiliation: Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Department of Pathology, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Lucas André Cavalcanti
authors.initials: LA
authors.lastname: Brandão
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Rafael Lima
authors.initials: RL
authors.lastname: Guimarães
authors.affiliation: Department of Immunology, Aggeu Magalhães Research Center (CPqAM - FIOCRUZ - Pernambuco), Recife, Pernambuco, Brazil.
authors.forename: Lilian Maria Lapa
authors.initials: LM
authors.lastname: Montenegro
authors.affiliation: Department of Immunology, Aggeu Magalhães Research Center (CPqAM - FIOCRUZ - Pernambuco), Recife, Pernambuco, Brazil.
authors.forename: Haiana Charifker
authors.initials: HC
authors.lastname: Schindler
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.affiliation: Department of Genetics, Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D001938:Brazil / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D014376:Tuberculosis / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult; D023083:beta-Defensins / Q000235:genetics*
chemical_list: C406407:DEFB1 protein, human; D023083:beta-Defensins
keywords: DEFB1; Genotyping; Innate immunity; Polymorphism; Tuberculosis