Department of Dermatology, Andrology and STDs, Faculty of Medicine, Menoufiya University, Shibeen El Koom, Egypt,
Department of Dermatology, Andrology and STDs, Faculty of Medicine, Menoufiya University, Shibeen El Koom, Egypt.
Skin Pharmacol Physiol. 2021;34(1):51-56. doi: 10.1159/000513053. Epub 2021 Feb 17.
Acne vulgaris (AV) is a very common inflammatory dermatosis. It has a complex pathogenesis in which oxidative stress plays an important role. Neutrophil cytosolic factor (NCF)-1 gene encodes for NCF1 protein which shares in reactive oxygen species (ROS) production. Copy number variation (CNV) is a type of genetic variance in which gene copies are duplicated or deleted. The current work aimed to detect the association between NCF1 CNV and NCF-1 genotypes and AV to explore their possible role in increased disease risk or influencing its clinical presentation. Twenty-five cases with AV and 25 age- and gender-matched healthy volunteers were selected. NCF1 CNV and genotypes were determined using quantitative real-time polymerase chain reaction. NCF1 copy number was significantly increased in patients compared to the control group (p = 0.02). Higher copy number increased the risk of occurrence of AV by about 4-fold. The NCF1 genotype was more prevalent in patients (72%) compared to NCF1B (24%) and NCF1C (4%) variants, while NCF1B and NCF1C variants (68%) were more prevalent in the control group. The NCF1B genotype decreased the risk of occurrence of AV by 0.2-fold. NCF1 was significantly associated with cases more than controls (p = 0.005). It increased the risk of occurrence of acne by 5.4-fold. There was significant association between NCF1 copy number and disease duration where higher number was associated with long disease duration (p = 0.03). Higher copy number was also associated with the NCF1 genotype (p = 0.01). This study suggests that increased copy number of NCF1 gene may be a predisposing factor for AV development. However, the presence of NCF1B and NCF1C variants lowers ROS production and subsequently decreases the risk of development of AV.
寻常痤疮（AV）是一种非常常见的炎症性皮肤病。它的发病机制复杂，其中氧化应激起着重要作用。中性粒细胞胞质因子（NCF）-1 基因编码 NCF1 蛋白，该蛋白参与活性氧（ROS）的产生。拷贝数变异（CNV）是一种遗传变异，其中基因拷贝被重复或缺失。目前的工作旨在检测 NCF1 CNV 和 NCF-1 基因型与 AV 之间的关联，以探讨它们在增加疾病风险或影响其临床表现方面的可能作用。选择 25 例 AV 患者和 25 名年龄和性别匹配的健康志愿者。使用实时定量聚合酶链反应（PCR）确定 NCF1 CNV 和基因型。与对照组相比，患者的 NCF1 拷贝数显着增加（p = 0.02）。较高的拷贝数使 AV 的发生风险增加了约 4 倍。与 NCF1B（24%）和 NCF1C（4%）变体相比，患者中 NCF1 基因型更为普遍（72%），而 NCF1B 和 NCF1C 变体（68%）在对照组中更为普遍。与 NCF1C 变体相比，NCF1B 基因型使 AV 的发生风险降低了 0.2 倍。与对照组相比，NCF1 与病例的相关性更为显著（p = 0.005）。它使痤疮的发生风险增加了 5.4 倍。NCF1 拷贝数与疾病持续时间之间存在显着关联，较高的数量与疾病持续时间较长有关（p = 0.03）。较高的拷贝数还与 NCF1 基因型相关（p = 0.01）。这项研究表明，NCF1 基因的拷贝数增加可能是 AV 发展的一个易感因素。然而，NCF1B 和 NCF1C 变体的存在会降低 ROS 的产生，从而降低 AV 发生的风险。
