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意大利西西里岛HIV-1基因分型及耐药突变图谱的新一代测序分析

Next-Generation Sequencing Analysis for HIV-1 Genotyping and Drug Resistance Mutations Mapping in Sicily, Italy.

作者信息

Pipitò Luca, Cannella Sara, Mascarella Chiara, Graceffa Domenico, Trizzino Marcello, Iaria Chiara, Colletti Pietro, Mazzola Giovanni, Giammanco Giovanni M, Cascio Antonio, Bonura Celestino

机构信息

Department of Health Promotion, Mother and Child Care, Internal Medicine, and Medical Specialties "G D'Alessandro", University of Palermo, 90133 Palermo, Italy.

Infectious and Tropical Diseases Unit and Sicilian Regional Reference Center for the Fight Against AIDS, AOU Policlinico "P. Giaccone", 90133 Palermo, Italy.

出版信息

Viruses. 2025 Aug 18;17(8):1129. doi: 10.3390/v17081129.

Abstract

BACKGROUND

The advent and continuous improvement in antiretroviral therapy (ART) have profoundly altered the clinical course of HIV infection, shifting the focus from AIDS-related complications to the management of age-related comorbidities and non-AIDS-related hospitalizations. In this evolving context, optimizing ART is essential, with genotypic resistance testing (GRT), particularly through next-generation sequencing (NGS), playing a pivotal role.

METHODS

This multicenter, retrospective cross-sectional study investigated HIV-1 subtypes, resistance mutations, and drug resistance profiles among 367 people living with HIV (PLWH) in Sicily, based on 384 GRTs performed at the Microbiology Laboratory of the University Hospital of Palermo.

RESULTS

Subtype B was the most prevalent (50%), followed by circulating recombinant forms (30%). Among treatment-naïve individuals, resistance-associated mutations were infrequent, with prevalence rates of 0.4% for NRTIs, 5.5% for NNRTIs, 1.3% for PIs, and 0.8% for INIs. Conversely, treatment-experienced individuals showed significantly higher resistance rates, especially to NRTIs (16.3%), NNRTIs (10.6%), and INIs (9.6%). No significant differences in resistance patterns were observed between B and non-B subtypes.

CONCLUSIONS

This study provides the first regional overview of HIV drug resistance across Sicily. Despite the detection of resistance-associated mutations, the overall prevalence of clinically relevant resistance, particularly to currently recommended therapies, remains low, especially among treatment-naïve individuals.

摘要

背景

抗逆转录病毒疗法(ART)的出现及不断改进深刻改变了HIV感染的临床进程,将重点从与艾滋病相关的并发症转移到与年龄相关的合并症管理及非艾滋病相关的住院治疗上。在这一不断演变的背景下,优化ART至关重要,基因耐药性检测(GRT),尤其是通过下一代测序(NGS),发挥着关键作用。

方法

这项多中心回顾性横断面研究,基于在巴勒莫大学医院微生物实验室进行的384次GRT,调查了西西里岛367名HIV感染者(PLWH)中的HIV-1亚型、耐药突变和耐药谱。

结果

B亚型最为普遍(50%),其次是循环重组型(30%)。在初治个体中,耐药相关突变很少见,核苷类逆转录酶抑制剂(NRTIs)的发生率为0.4%,非核苷类逆转录酶抑制剂(NNRTIs)为5.5%,蛋白酶抑制剂(PIs)为1.3%,整合酶抑制剂(INIs)为0.8%。相反,经治个体显示出明显更高的耐药率,尤其是对NRTIs(16.3%)、NNRTIs(10.6%)和INIs(9.6%)。在B亚型和非B亚型之间未观察到耐药模式的显著差异。

结论

本研究提供了西西里岛HIV耐药性的首个区域概述。尽管检测到耐药相关突变,但临床相关耐药的总体发生率,尤其是对当前推荐疗法的耐药率仍然较低,尤其是在初治个体中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcba/12390713/ea6ac6730354/viruses-17-01129-g001.jpg

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