title: The GATA3 gene is involved in leprosy susceptibility in Brazilian patients.
abstract: Leprosy outcome is a complex trait and the host-pathogen-environment interaction defines the emergence of the disease. Host genetic risk factors have been successfully associated to leprosy. The 10p13 chromosomal region was linked to leprosy in familial studies and GATA3 gene is a strong candidate to be part of this association. Here, we tested tag single nucleotide polymorphisms at GATA3 in two case-control samples from Brazil comprising a total of 1633 individuals using stepwise strategy. The A allele of rs10905284 marker was associated with leprosy resistance. Then, a functional analysis was conducted and showed that individuals carrying AA genotype express higher levels of GATA-3 protein in lymphocytes. So, we confirmed that the rs10905284 is a locus associated to leprosy and influences the levels of this transcription factor in the Brazilian population.
authors.affiliation: Instituto Lauro de Souza Lima, ILSL, Rodovia Comandante João Ribeiro de Barros Km 225/226, Aimorés, CEP: 17034-97 Bauru, São Paulo, Brazil.
authors.forename: Priscila
authors.initials: P
authors.lastname: Medeiros
authors.affiliation: Instituto Lauro de Souza Lima, ILSL, Rodovia Comandante João Ribeiro de Barros Km 225/226, Aimorés, CEP: 17034-97 Bauru, São Paulo, Brazil.
authors.forename: Weber Laurentino
authors.initials: WL
authors.lastname: da Silva
authors.affiliation: Instituto Lauro de Souza Lima, ILSL, Rodovia Comandante João Ribeiro de Barros Km 225/226, Aimorés, CEP: 17034-97 Bauru, São Paulo, Brazil.
authors.forename: Bruna Beatriz
authors.initials: BB
authors.lastname: de Oliveira Gimenez
authors.affiliation: Instituto Lauro de Souza Lima, ILSL, Rodovia Comandante João Ribeiro de Barros Km 225/226, Aimorés, CEP: 17034-97 Bauru, São Paulo, Brazil.
authors.forename: Keren Bastos
authors.initials: KB
authors.lastname: Vallezi
authors.affiliation: Laboratório de Hanseníase, Instituto Oswaldo Cruz, FIOCRUZ, Avenida Brasil n°4365, Manguinhos, CEP: 21040-360, Rio de Janeiro, Brazil.
authors.forename: Milton Ozório
authors.initials: MO
authors.lastname: Moraes
authors.affiliation: Instituto Lauro de Souza Lima, ILSL, Rodovia Comandante João Ribeiro de Barros Km 225/226, Aimorés, CEP: 17034-97 Bauru, São Paulo, Brazil.
authors.forename: Vânia Niéto Brito
authors.initials: VNB
authors.lastname: de Souza
authors.affiliation: Instituto Lauro de Souza Lima, ILSL, Rodovia Comandante João Ribeiro de Barros Km 225/226, Aimorés, CEP: 17034-97 Bauru, São Paulo, Brazil. Electronic address: anacarlap@gmail.com.
authors.forename: Ana Carla Pereira
authors.initials: ACP
authors.lastname: Latini
mesh_terms: D000483:Alleles; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D016207:Cytokines; D050990:GATA3 Transcription Factor / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007918:Leprosy / Q000453:epidemiology* / Q000235:genetics* / Q000378:metabolism; D015810:Linkage Disequilibrium; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide
chemical_list: D016207:Cytokines; D050990:GATA3 Transcription Factor
keywords: Association study; GATA-3 transcription factor; GATA3; Leprosy; Polymorphisms; rs10905284