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

• Main Authors: Giselle Calasans de Souza Costa, Jaqueline Goes Jesus, Filipe Ferreira de Almeida Rego, Edson Souza Santos, Bernardo Galvão-Castro, Marilda de Souza Gonçalves, Luiz Carlos Júnior Alcantara
• Format: Article
• Language: English
• Published: Instituto Oswaldo Cruz, Ministério da Saúde 2014-04-01
• Series: Memórias do Instituto Oswaldo Cruz.
• Subjects: HIV-1; Langerin; polymorphism
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02762014000200250&lng=en&tlng=en

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.