Costa Giselle Calasans de Souza, Jesus Jaqueline Goes, Rego Filipe Ferreira de Almeida, Santos Edson Souza, Galvão-Castro Bernardo, Gonçalves Marilda de Souza, Alcantara Luiz Carlos Júnior
Laboratório de Hematologia, Genética e Biologia Computacional, Centro de Pesquisas Gonçalo Moniz, Fiocruz, Salvador, BA, Brasil.
Escola Bahiana de Medicina e Saúde Pública, Fundação Bahiana para o Desenvolvimento das Ciências, Salvador, BA, Brasil.
Mem Inst Oswaldo Cruz. 2014 Apr;109(2):250-5. 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.
对人类基因变异的研究是了解人类免疫缺陷病毒（HIV）-1感染的有用知识来源。在朗格汉斯细胞表面发现的朗格蛋白在HIV-1感染中具有重要的保护作用。由于宿主基因因素导致的朗格蛋白功能差异可能会影响对HIV-1感染的易感性。为了验证朗格蛋白基因中的突变频率，选择了118份来自HIV-1感染女性的样本和99份来自未感染HIV-1个体的样本，对朗格蛋白基因的启动子和编码碳水化合物识别结构域（CRD）的区域进行测序。根据MatInspector软件分析，朗格蛋白启动子分析在两个研究组中均发现了两个单核苷酸多态性（SNP）和一个突变，这些突变产生了某些转录因子（如NFAT5、HOXB9.01和STAT6.01）的新结合位点。在HIV-1感染和未感染个体的CRD编码区域观察到三个SNP：p.K313I、c.941C>T和c.983C>T。本研究表明，朗格蛋白基因中的突变以不同的基因型和等位基因频率存在于分析的人群中。应进一步开展研究以验证这些突变在HIV-1易感性中的作用。
