title: Genetic characterisation of Langerin gene in human immunodeficiency virus-1-infected women from Bahia, Brazil.
abstract: Studies on human genetic variations are a useful source of knowledge about human immunodeficiency virus (HIV)-1 infection. The Langerin protein, found at the surface of Langerhans cells, has an important protective role in HIV-1 infection. Differences in Langerin function due to host genetic factors could influence susceptibility to HIV-1 infection. To verify the frequency of mutations in the Langerin gene, 118 samples from HIV-1-infected women and 99 samples from HIV-1-uninfected individuals were selected for sequencing of the promoter and carbohydrate recognition domain (CRD)-encoding regions of the Langerin gene. Langerin promoter analysis revealed two single nucleotide polymorphisms (SNPs) and one mutation in both studied groups, which created new binding sites for certain transcription factors, such as NFAT5, HOXB9.01 and STAT6.01, according to MatInspector software analysis. Three SNPs were observed in the CRD-encoding region in HIV-1-infected and uninfected individuals: p.K313I, c.941C>T and c.983C>T. This study shows that mutations in the Langerin gene are present in the analysed populations at different genotypic and allelic frequencies. Further studies should be conducted to verify the role of these mutations in HIV-1 susceptibility.
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisas Gonçalo Moniz, Fiocruz, Salvador, BA, Brasil.
authors.forename: Giselle Calasans de Souza
authors.initials: GC
authors.lastname: Costa
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisas Gonçalo Moniz, Fiocruz, Salvador, BA, Brasil.
authors.forename: Jaqueline Goes
authors.initials: JG
authors.lastname: Jesus
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisas Gonçalo Moniz, Fiocruz, Salvador, BA, Brasil.
authors.forename: Filipe Ferreira de Almeida
authors.initials: FF
authors.lastname: Rego
authors.affiliation: Escola Bahiana de Medicina e Saúde Pública, Fundação Bahiana para o Desenvolvimento das Ciências, Salvador, BA, Brasil.
authors.forename: Edson Souza
authors.initials: ES
authors.lastname: Santos
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisas Gonçalo Moniz, Fiocruz, Salvador, BA, Brasil.
authors.forename: Bernardo
authors.initials: B
authors.lastname: Galvão-Castro
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisas Gonçalo Moniz, Fiocruz, Salvador, BA, Brasil.
authors.forename: Marilda de Souza
authors.initials: Mde S
authors.lastname: Gonçalves
authors.affiliation: Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisas Gonçalo Moniz, Fiocruz, Salvador, BA, Brasil.
authors.forename: Luiz Carlos Júnior
authors.initials: LC
authors.lastname: Alcantara
mesh_terms: D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D001938:Brazil; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D015658:HIV Infections / Q000235:genetics*; D015497:HIV-1; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D037181:Lectins, C-Type / Q000235:genetics*; D008297:Male; D037241:Mannose-Binding Lectins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D050800:STAT6 Transcription Factor / Q000235:genetics; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: D015703:Antigens, CD; C121916:CD207 protein, human; C491257:HOXB9 protein, human; D018398:Homeodomain Proteins; D037181:Lectins, C-Type; D037241:Mannose-Binding Lectins; C118125:NFAT5 protein, human; D050800:STAT6 Transcription Factor; C494101:STAT6 protein, human; D014157:Transcription Factors