de Paula Filho Márcio Fabrício Falcão, Lopes Chrisóstomo Lara Luísa, Cansanção Isaac Farias
Medicine Collegiate, Campus Paulo Afonso, Universidade Federal do Vale do São Francisco (UNIVASF), Paulo Afonso, BA, 48605-780, Brazil.
Curr Genomics. 2024;25(4):316-321. doi: 10.2174/0113892029293113240427065916. Epub 2024 May 9.
Human papillomavirus (HPV) is the main risk factor for the development of squamous cell cervical cancer, and E6 oncoprotein and E7 oncoprotein are important components of the viral genome and its oncogenic potential. It is known that different viral variants of HPV16 have different pathology and impact on the development of neoplasia, although few studies have been performed on South American variants.
Therefore, the present study aimed to analyze the genomic diversity of HPV16 in 20 complete genome variants of South America in the National Center for Biotechnology Information (NCBI) database.
We performed a descriptive study to characterize the polymorphic regions of the E6 and E7 genes in HPV16 variants, using software for genomic data and single nucleotide polymorphism (SNP) analysis and others for phylogenetic analysis.
The variants analyzed included six SNPs linked to cancer (A131G, G145T, C335T, T350G, C712A, and T732C) and significant variation (798 nucleotide substitutions). Despite this, the variants showed low genetic diversity. Eighteen variants of unclear significance (VUS) were identified, 10 of which were in the coding E6 regions and 8 in the coding E7 regions. The prevalence of lineage D variants is of concern due to their pathology in cervical cancer and requires more research and epidemiological vigilance regarding their prevalence in the population.
The data obtained in this study may contribute to future research on South American variants of HPV16, their pathogenicity, and the development of treatments.
人乳头瘤病毒（HPV）是鳞状细胞宫颈癌发生的主要危险因素，E6癌蛋白和E7癌蛋白是病毒基因组及其致癌潜能的重要组成部分。已知HPV16的不同病毒变体具有不同的病理学特征，并对肿瘤形成有不同影响，尽管针对南美变体的研究较少。
因此，本研究旨在分析美国国立生物技术信息中心（NCBI）数据库中20个南美完整基因组变体中HPV16的基因组多样性。
我们进行了一项描述性研究，使用基因组数据软件和单核苷酸多态性（SNP）分析软件以及其他用于系统发育分析的软件，对HPV16变体中E6和E7基因的多态性区域进行表征。
分析的变体包括6个与癌症相关的单核苷酸多态性（A131G、G145T、C335T、T350G、C712A和T732C）以及显著变异（798个核苷酸替换）。尽管如此，这些变体的遗传多样性较低。鉴定出18个意义不明确的变体（VUS），其中10个在E6编码区，8个在E7编码区。由于其在宫颈癌中的病理学特征，谱系D变体的流行情况令人担忧，需要对其在人群中的流行情况进行更多研究和流行病学监测。
本研究获得的数据可能有助于未来对HPV16南美变体、其致病性及治疗方法开发的研究。
