Association between the APOC3 (rs2854116), ESR2 (rs3020450), HFE (rs1799945), and MMP1 (rs1799750) gene polymorphisms and lipodystrophy in people living with HIV receiving antiretroviral therapy.

IF 3.6 3区医学 Q1 PATHOLOGY

Expert Review of Molecular Diagnostics Pub Date : 2025-09-23 DOI:10.1080/14737159.2025.2562863

Andreia Soares da Silva, Maria Do Socorro de Mendonça Cavalcanti, Taciana Furtado de Mendonça Belmont, Ricardo Arraes de Alencar Ximenes, Débora Nascimento da Nóbrega, Roberta Dos Santos Souza, Isabela Cristina Cordeiro Farias, Kleyton Palmeira Do Ó, Luydson Richardson Silva Vasconcelos, George Tadeu Nunes Diniz, Demócrito de Barros Miranda Filho

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引用次数: 0

Abstract

Background: The pathogenesis of lipodystrophy in people living with HIV (PLWHIV) receiving antiretrovirals appears to be multifactorial and may involve genetic factors; however, it is not yet fully understood. We verified the association between single nucleotide polymorphisms in the APOC3-rs2854116, ESR2-rs3020450, HFE-rs1799945 and MMP1-rs1799750 genes and lipodystrophy and its subtypes in PLWHIV receiving antiretroviral.

Methods: Design: cross-sectional study. Lipodystrophy definition was based on self-report. Genotyping of the polymorphisms was performed using real-time polymerase chain reaction.

Results: Lipodystrophy was reported in 204/404 participants (51%), being 89/204 with mixed lipodystrophy, 72/204 with lipohypertrophy, and 43/204 with lipoatrophy. There was no association between APOC3, HFE, and MMP1 polymorphisms and lipodystrophy. The frequency of AA genotype (p=0.004/OR=3.33/CI=1.52-7.29) and of A allele (p=0.031/OR=1.72/CI=1.08-2.75) of the ESR2 polymorphism was higher in individuals with lipoatrophy compared to those without lipodystrophy. In the multivariate analysis, viral load >40copies/mL (p=0.037/OR=2.52/CI=1.03-6.91) and current use of zidovudine (p=0.007/OR=2.97/CI=1.32-6.54) were associated with lipoatrophy.

Conclusion: Participants with lipoatrophy had higher frequency of the AA genotype and the A allele of the ESR2-rs3020450 polymorphism. In addition, viral load >40 copies/mL and current use of zidovudine were associated with lipoatrophy, suggesting a potential involvement of this genetic variant in the pathogenesis of lipoatrophy in PLWHIV receiving antiretroviral.

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在接受抗逆转录病毒治疗的HIV感染者中，APOC3 （rs2854116）、ESR2 （rs3020450）、HFE （rs1799945）和MMP1 （rs1799750）基因多态性与脂肪营养不良的关系

背景：接受抗逆转录病毒治疗（ART）的HIV感染者（PLWHIV）脂肪营养不良的发病机制似乎是多因素的，可能涉及遗传因素；然而，它还没有被完全理解。目的：验证接受ART的PLWHIV患者APOC3 （rs2854116）、ESR2 （rs3020450）、HFE （rs1799945）和MMP1 （rs1799750）基因单核苷酸多态性（snp）与脂肪营养不良及其亚型的相关性。方法：本分析性横断面研究基于自我报告定义脂肪营养不良。采用实时聚合酶链反应（RT-PCR）对所选多态性进行基因分型。结果：在404名参与者中，204名（51%）报告了脂肪营养不良，其中89名（43%）患有混合性脂肪营养不良，72名（35%）患有脂肪肥大，43名（22%）患有脂肪萎缩。apo3、HFE和MMP1 snp与脂肪营养不良或其亚型之间没有关联。然而，与没有脂肪营养不良的个体相比，脂肪萎缩个体中ESR2 SNP的AA基因型（p = 0.004 OR = 3.33, CI = 1.52-7.29）和A等位基因（p = 0.031, OR = 1.72, CI = 1.08-2.75）的频率更高。在多变量分析中，病毒载量bbb40拷贝/mL （p = 0.037, OR = 2.52, CI = 1.03-6.91）和目前使用齐多夫定（AZT）（p = 0.007, OR = 2.97, CI = 1.32-6.54）与脂肪萎缩相关。结论：脂肪萎缩患者出现AA基因型和ESR2基因中rs3020450 SNP等位基因a的频率更高。此外，病毒载量bbb40拷贝/mL和目前使用AZT与脂肪萎缩独立相关，这表明这种遗传变异以及这些临床和实验室辅助因素可能参与了接受抗逆转录病毒治疗的PLWHIV脂肪萎缩的发病机制。

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来源期刊

Expert Review of Molecular Diagnostics 医学-病理学

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.