Student Research Committee, Birjand University of Medical Sciences, Birjand, Iran.
Department of Clinical Biochemistry, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran.
Lipids Health Dis. 2023 Sep 7;22(1):147. doi: 10.1186/s12944-023-01905-0.
Nonalcoholic fatty liver disease (NAFLD) is a prevalent chronic liver disease with a global prevalence, and modulation of ANGPTL8 expression has emerged as a promising predictor of NAFLD susceptibility. This research was conducted to scrutinize ANGPTL8 protein expression in NAFLD patients and elucidate the interplay between ANGPTL8 gene polymorphisms and their lipid profiles, thus shedding new light on the pathophysiology of this complex disease. The study comprised 423 unrelated participants, including 222 healthy controls and 201 individuals with NAFLD, screened using FibroScan/ultrasonography and laboratory tests. The main goal focused on the genotype and allele frequency distribution in the ANGPTL8 gene, specifically analyzing two genetic variations: rs737337 (T/C) and rs2278426 (C/T). The participants diagnosed with NAFLD were slightly younger (P ≥ 0.05) and had a higher body mass index (BMI) than the individuals in the control group. Notably, there was a significant difference in the occurrence of the rs737337 polymorphism between the NAFLD and control groups, with a lower frequency observed in the NAFLD group. Our results indicated that individuals with the TC + CC genotype and C allele of rs737337 (T/C) had a decreased risk of higher levels of ALT and AST. Conversely, those with the CT, CT + TT genotype, and T allele of rs2278426 (C/T) exhibited an increased risk of higher levels of ALT and AST. The results imply that the rs2278426 (C/T) variant of the ANGPTL8 gene is more strongly linked to an increased risk of NAFLD compared to the rs737337 polymorphism. However, additional research is needed to understand the specific molecular mechanisms responsible for the upregulation of ANGPTL8 in individuals with NAFLD.
非酒精性脂肪性肝病（NAFLD）是一种普遍的慢性肝病，具有全球患病率，ANGPTL8 表达的调节已成为预测 NAFLD 易感性的有希望的指标。本研究旨在探讨 NAFLD 患者的 ANGPTL8 蛋白表达，并阐明 ANGPTL8 基因多态性与其脂质谱之间的相互作用，从而为这种复杂疾病的病理生理学提供新的见解。该研究包括 423 名无关参与者，包括 222 名健康对照者和 201 名 NAFLD 患者，通过 FibroScan/超声和实验室检查进行筛选。主要目标是分析 ANGPTL8 基因的基因型和等位基因频率分布，特别是分析两种遗传变异：rs737337（T/C）和 rs2278426（C/T）。与对照组相比，被诊断为 NAFLD 的患者年龄稍轻（P≥0.05）且体重指数（BMI）较高。值得注意的是，rs737337 多态性在 NAFLD 组和对照组之间的发生存在显著差异，NAFLD 组的频率较低。我们的结果表明，rs737337（T/C）的 TC+CC 基因型和 C 等位基因个体以及 C 等位基因个体发生 ALT 和 AST 水平升高的风险降低。相反，具有 CT、CT+TT 基因型和 T 等位基因 rs2278426（C/T）的个体发生 ALT 和 AST 水平升高的风险增加。结果表明，与 rs737337 多态性相比，ANGPTL8 基因的 rs2278426（C/T）变体与 NAFLD 风险增加的相关性更强。然而，需要进一步的研究来了解导致 NAFLD 个体中 ANGPTL8 上调的具体分子机制。
