Department of Clinical Biochemistry, Department of Basic Medical Sciences, College of Medicine, Shaqra University, Dawadmi, Saudi Arabia.
Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Center, Dokki, Egypt.
Skin Res Technol. 2023 Aug;29(8):e13424. doi: 10.1111/srt.13424.
Macrophage scavenger receptor 1 gene (MSR1), is responsible for producing macrophage scavenger receptors. MSR1 is primarily located on the surfaces of various macrophage types and is known to exert a range of effects on the human body. These effects include influencing innate and adaptive immunological reactions, as well as contributing to the development of conditions such as atherosclerosis, dyslipidemia, liver and lung disease, and cancer. The unregulated assimilation of lipoproteins by MSR1 leads to the creation of macrophages rich in cholesterol that manifest as foam-like cells, ultimately contributing to dyslipidemia. This occurrence highlights the significance of MSR1 as a key player in the pathophysiology of dyslipidemia.
In this study, we aimed to estimate variation in lipid profile in acne vulgaris (AV) patients. Also, we aimed to investigate the role of MSR1 in lipid profile variation.
A case-control study consisting of 100 patients with AV and 104 healthy controls. Lipid profiles were assessed using normalized enzymatic processes and genotype analyses were performed by a polymerase chain reaction and standard Sanger sequencing. Predictions of variant effects were performed using in silico tools.
Our results indicated that the levels of lipid profile were higher in patients with AV than in healthy patients. The two haplotypes that were most prevalent in the patients were TCAC (16.5%) and CAGG (15.47%), whereas the two haplotypes that were more prevalent in the controls were TAAC (16.43%) and CCAC (15.62%). IVS5.59 C > A and rs433235 A > G are in linkage disequilibrium. Additionally, rs433235 A > G has a significant linkage disequilibrium with rs3747531 C > G. In silico analysis, tools indicated that the rs433235 A > G variant was disease-causing.
Patients diagnosed with TCAC and CAGG exhibited a higher prevalence compared to healthy patients with TAAC and CCAC. The linkage disequilibrium between rs433235 A > G and IVS5.59 C > A has been established. Furthermore, there appears to be significant linkage disequilibrium between rs3747531 C > G and rs433235 A > G. These findings support the notion that genetic variations may play a critical role in the pathogenesis of these conditions.
巨噬细胞清道夫受体 1 基因（MSR1）负责产生巨噬细胞清道夫受体。MSR1 主要位于各种巨噬细胞类型的表面，已知对人体有多种影响。这些影响包括影响先天和适应性免疫反应，以及导致动脉粥样硬化、血脂异常、肝肺疾病和癌症等疾病的发展。MSR1 对脂蛋白的不受调节的摄取导致富含胆固醇的巨噬细胞的形成，表现为泡沫样细胞，最终导致血脂异常。这种情况突显了 MSR1 作为血脂异常病理生理学关键因素的重要性。
本研究旨在评估寻常痤疮（AV）患者的血脂谱变化。并探讨 MSR1 在血脂谱变化中的作用。
这是一项包括 100 例 AV 患者和 104 例健康对照者的病例对照研究。使用标准化酶促过程评估血脂谱，通过聚合酶链反应和标准 Sanger 测序进行基因型分析。使用计算机模拟工具预测变异效应。
我们的结果表明，AV 患者的血脂谱水平高于健康患者。在患者中最常见的两种单倍型是 TCAC（16.5%）和 CAGG（15.47%），而在对照组中更常见的两种单倍型是 TAAC（16.43%）和 CCAC（15.62%）。IVS5.59C > A 和 rs433235A > G 处于连锁不平衡状态。此外，rs433235A > G 与 rs3747531C > G 显著连锁不平衡。计算机模拟分析工具表明，rs433235A > G 变异是致病的。
与 TAAC 和 CCAC 健康患者相比，诊断为 TCAC 和 CAGG 的患者更常见。已经建立了 rs433235A > G 和 IVS5.59C > A 之间的连锁不平衡。此外，rs3747531C > G 和 rs433235A > G 之间似乎存在显著的连锁不平衡。这些发现支持遗传变异可能在这些疾病的发病机制中起关键作用的观点。
