Genetic characterisation of Langerin gene in human immunodeficiency virus-1-infected women from Bahia, Brazil

• Published in: Memórias do Instituto Oswaldo Cruz 2014-04, Vol.109 (2), p.250-255
• Main Authors: de Souza Costa, Giselle Calasans, Jesus, Jaqueline Goes, de Almeida Rego, Filipe Ferreira, Santos, Edson Souza, Galvão-Castro, Bernardo, de Souza Gonçalves, Marilda, Alcantara, Luiz Carlos Júnior
• Format: Article
• Language: English
• Subjects: Adult; Aged; Antigens, CD - genetics; Brazil; Female; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; Genotype; HIV Infections - genetics; HIV-1; Homeodomain Proteins - genetics; Human immunodeficiency virus; Human immunodeficiency virus 1; Humans; Hydrophobic and Hydrophilic Interactions; Langerin; Lectins, C-Type - genetics; Male; Mannose-Binding Lectins - genetics; Middle Aged; Mutation; PARASITOLOGY; Polymerase Chain Reaction; polymorphism; Polymorphism, Single Nucleotide - genetics; Promoter Regions, Genetic - genetics; Sequence Analysis, DNA; STAT6 Transcription Factor - genetics; Transcription Factors - genetics; TROPICAL MEDICINE; Young Adult
• ISSN: 1678-8060; 0074-0276; 1678-8060
• DOI: 10.1590/0074-0276140337

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.