Department of Traditional and Western Medical Hepatology & Hebei Key Laboratory of Mechanism of Liver Fibrosis in Chronic Liver Disease, Third Hospital of Hebei Medical University, Shijiazhuang, China.
School of Public Health, Hebei Medical University, Shijiazhuang, China.
J Int Med Res. 2023 Jul;51(7):3000605231187953. doi: 10.1177/03000605231187953.
Mitofusion-2 (Mfn2) may have a role in mitochondrial oxidative stress and insulin resistance that can promote the development of metabolic dysfunction associated fatty liver disease (MAFLD). This retrospective and case control study aimed to explore the relationships between common single nucleotide polymorphisms (SNPs) and MAFLD in a northern Han Chinese population.
Six SNPs (rs2336384, rs873458, rs873457, rs4846085, rs2878677, and rs2236057) were genotyped using the ligase detection reaction in 466 MAFLD patients and 423 healthy controls. Genotype and allele frequencies were calculated, along with haplotype analysis and pairwise linkage disequilibrium.
The genotype distribution of rs2336384, rs2878677, and rs2236057 among the MAFLD patients showed a significantly different pattern from that of healthy controls. The data showed that an increased risk of MAFLD was significantly correlated with patients carrying the GG genotype of rs2336384, CC genotype of rs873457, TT genotype of rs4846085, TT genotype of rs2878677, and the AA genotype of rs2236057. Moreover, The GGCTTA haplotype was found to be adversely linked with MAFLD by haplotype analysis.
The current findings suggest a strong link between certain gene polymorphisms and MAFLD.
线粒体融合蛋白 2（Mfn2）可能在氧化应激和胰岛素抵抗中发挥作用，从而促进与代谢功能障碍相关的非酒精性脂肪性肝病（MAFLD）的发生。本回顾性病例对照研究旨在探讨北方汉族人群中常见单核苷酸多态性（SNP）与 MAFLD 的关系。
采用连接酶检测反应法对 466 例 MAFLD 患者和 423 例健康对照者的 6 个 SNP（rs2336384、rs873458、rs873457、rs4846085、rs2878677 和 rs2236057）进行基因分型。计算基因型和等位基因频率，并进行单体型分析和连锁不平衡分析。
MAFLD 患者 rs2336384、rs2878677 和 rs2236057 的基因型分布与健康对照组有显著差异。数据表明，携带 rs2336384 的 GG 基因型、rs873457 的 CC 基因型、rs4846085 的 TT 基因型、rs2878677 的 TT 基因型和 rs2236057 的 AA 基因型的患者 MAFLD 发病风险显著增加。此外，单体型分析发现 GGCTTA 单体型与 MAFLD 呈负相关。
本研究结果提示某些基因多态性与 MAFLD 之间存在较强的关联。
