In HIV-infected patients, antiretroviral therapy (ART) is associated to adipose tissue redistribution known as lipodystrophy (LD). This study aimed at verifying the association between the polymorphism of the MMP1 gene (rs1799750) (1G/2G) and the serum levels of matrix metalloproteinase 1 (MMP-1) with LD and its subtypes in people living with HIV on ART. This is a cross-secional study. LD was self-reported. The determination of the MMP1 rs1799750 gene polymorphism was performed by real-time PCR, and the serum concentrations of MMP-1 were quantified by the enzyme-linked immunosorbent assay (ELISA) method. Of 404 participants, 204 (51%) were diagnosed with LD, of whom 89 (43%) had mixed lipodystrophy (ML), 72 (35%) had lipohypertrophy (LH), and 43 (22%) had lipoatrophy (LA). There was an association between the genotypes 1G/1G+1G/2G and higher serum levels of MMP-1 (p = .025). There was no association of MMP1 (1G/2G) with LD. Other factors associated with LD were current CD4 ≤ 350 [odds ratio (OR) = 4.85, confidence interval (CI) = 1.78–47.99, p = .0033] and serum MMP-1 levels >6.81 (OR = 2.67, CI = 1.21–6.08, p = .0165). Factors associated with ML: current CD4 ≤ 350 (OR = 5.59, CI = 1.69–20.39, p = .006); with LH: number of antiretroviral regimens used: 2 (OR = 2.06, CI = 1.01–4.20, p = .0460) and 3+ (OR = 2.09, CI = 1.00–4.35, p = .0477), and current CD4 ≤ 350 (OR = 2.08, CI = 1.00–4.24, p = .0461); and with LA: current viral load >40 (OR = 2.52, CI = 1.03–5.91, p = .0372) and current use of zidovudine (OR = 2.97, CI = 1.32–6.54, p = .0074). Higher levels of MMP-1 were associated with genotypes 1G/2G+1G/1G and with LD. Other individual risk factors were independently associated with LD, and its subtypes, suggesting that the pathogenesis itself is differently manifested for each type of LD.

中文翻译：

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MMP1 rs1799750 的 1G/1G+1G/2G 基因型与更高水平的 MMP-1 相关，并且都与接受抗逆转录病毒治疗的 HIV 感染者的脂肪代谢障碍相关

在 HIV 感染患者中，抗逆转录病毒疗法 (ART) 与脂肪组织重新分布有关，称为脂肪代谢障碍 (LD)。本研究旨在验证MMP1基因 (rs1799750) (1G/2G)多态性与血清基质金属蛋白酶 1 (MMP-1) 水平与接受 ART 的 HIV 感染者的 LD 及其亚型之间的关联。这是一项跨部门研究。LD是自我报告的。MMP1的测定rs1799750基因多态性采用实时PCR检测，血清MMP-1浓度采用ELISA法定量。在 404 名参与者中，204 名 (51%) 被诊断为 LD，其中 89 名 (43%) 患有混合性脂肪营养不良 (ML)，72 名 (35%) 患有脂肪肥大 (LH)，43 名 (22%) 患有脂肪萎缩 (LA) . 基因型 1G/1G+1G/2G 与较高的 MMP-1 血清水平之间存在关联 ( p  = .025)。MMP1 (1G/2G) 与 LD没有关联。与 LD 相关的其他因素包括当前 CD4 ≤ 350 [优势比 (OR) = 4.85，置信区间 (CI) = 1.78–47.99，p  = .0033] 和血清 MMP-1 水平 >6.81（OR = 2.67，CI = 1.21 –6.08, p = .0165）。与 ML 相关的因素：当前 CD4 ≤ 350（OR = 5.59，CI = 1.69–20.39，p  = .006 ）；使用 LH：使用的抗逆转录病毒方案数：2（OR = 2.06，CI = 1.01–4.20，p  = .0460）和 3+（OR = 2.09，CI = 1.00–4.35，p  = .0477），当前 CD4 ≤ 350（OR = 2.08，CI = 1.00–4.24，p  = .0461）；LA：当前病毒载量 >40（OR = 2.52，CI = 1.03–5.91，p  = .0372）和当前使用齐多夫定（OR = 2.97，CI = 1.32–6.54，p = .0074）。较高水平的 MMP-1 与基因型 1G/2G+1G/1G 和 LD 相关。其他个体风险因素与 LD 及其亚型独立相关，这表明每种 LD 的发病机制本身都不同。