Benelli Jéssica Louise, de Medeiros Rúbia Marília, Matte Maria Cristina Cotta, de Melo Marineide Gonçalves, de Matos Almeida Sabrina Esteves, Fiegenbaum Marilu
1 Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre , Porto Alegre, Brazil .
2 Technological and Scientific Development Center-CDCT, State Foundation in Production and Health Research-FEPPS , Rio Grande do Sul, Porto Alegre, Brazil .
Genet Test Mol Biomarkers. 2016 Jul;20(7):383-7. doi: 10.1089/gtmb.2015.0206. Epub 2016 May 26.
HIV infection is a chronic disease that requires intensive treatment in its later phases, including dietary supplementation. Several studies have suggested clinical improvements in patients with high levels of selenium, linking these levels with a longer progression to AIDS. The objective of this study was to verify the association of two polymorphisms in the SEP15 gene, which encodes a selenoprotein that is responsible for the transport of selenium in cells, with the time of progression to AIDS in HIV-1-infected patients.
Blood samples were obtained from 139 HIV-1-positive individuals after they provided informed consent. DNA was isolated and genotyped using real-time polymerase chain reaction for the presence of SEP15 single nucleotide polymorphisms (rs5859 and rs561104). Questionnaires on sociodemographic features and behavior were answered, and the time of progression to AIDS was estimated based on a medical chart analysis.
The allelic and genotypic frequencies did not differ between rapid and nonrapid progressors; however, the presence of the AA genotype of the rs5859 polymorphism was associated with a shorter time of progression to AIDS compared with GG homozygotes (hazard ratio = 3.62, 95% CI = 1.55-8.43, p = 0.003).
These findings show the importance of genetic analysis of the SEP15 gene in individual patients with regard to predicting time of progression to AIDS.
HIV感染是一种慢性疾病，在其后期需要强化治疗，包括膳食补充。多项研究表明，硒水平高的患者临床症状有所改善，并将这些水平与艾滋病进展时间延长联系起来。本研究的目的是验证SEP15基因中的两种多态性与HIV-1感染患者艾滋病进展时间的关联，该基因编码一种负责细胞内硒运输的硒蛋白。
在139名HIV-1阳性个体提供知情同意后采集血样。分离DNA并使用实时聚合酶链反应对SEP15单核苷酸多态性（rs5859和rs561104）进行基因分型。回答了关于社会人口学特征和行为的问卷，并根据病历分析估计艾滋病进展时间。
快速进展者和非快速进展者之间的等位基因和基因型频率没有差异；然而，与GG纯合子相比，rs5859多态性的AA基因型与艾滋病进展时间较短相关（风险比=3.62，95%CI=1.55-8.43，p=0.003）。
这些发现表明，SEP15基因的遗传分析对于预测个体患者艾滋病进展时间具有重要意义。
