关键词: 代谢相关脂肪性肝病, 单核苷酸多态性, 溶质载体有机阴离子转运蛋白家族成员1B1, 载脂蛋白E, 脂代谢

Abstract: Objective The aim of this study was to explore the gene polymorphisms of solute carrier organic anion transporter family member 1B1 (SLCO1B1) and apolipoprotein E (APOE) to lipid metabolism in patients with metabolism-associated fatty liver diseases (MAFLD). Methods 121 patients with MAFLD and 150 healthy persons were encountered in our hospital between August 2018 and August 2021. Peripheral blood total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) levels were detected, and SLCO1B1 and APOE gene phenotypes in the two groups were determined. Results Serum TC, TG and LDL-C levels in patients with MAFLD were (5.8±2.3)mmol/L,(2.9±1.4)mmol/L and (3.3±1.5)mmol/L, all significantly higher than [(4.8±1.2)mmol/L, (1.5±1.3)mmol/L and (2.6±1.1)mmol/L, respectively, P<0.05]; the frequency of SLCO1B1 genotyp *1a/*1a and *1a/*1b in patients with MAFLD were 8.3% and 35.5%, both significantly higher than 2.7% and 23.3%(P<0.05), while the frequency of phenotype *1b/*1b were 32.2%, significantly lower than 46.0%(P<0.05) in the healthy persons; the frequency of APOE genotype ε3/3 and the frequency of E3 phenotype in patients with MAFLD were 69.4% and 71.9%, both significantly higher than 56.7% and 58.7%(P<0.05), while the frequencies of genotypeε 3/4 and phenotype E4 were 17.4% and 18.2%, both significantly lower than 29.3% and 30.7%(P<0.05) in healthy individuals; serum TC, TG and LDL-C levels in 26 MAFLD patients with SLCO1B1genotype B were (6.4±1.2)mmol/L, (3.5±2.2)mmol/L and (3.8±0.8)mmol/L, all significantly higher than [(5.5±1.3)mmol/L, (2.6±3.3)mmol/L and (3.0±1.2)mmol/L, respectively, P<0.05] in 92 patients with genotype A or [(4.6±0.3)mmol/L,(2.6±0.9)mmol/L and (2.5±0.2)mmol/L, respectively, P<0.05] in 3 patients with genotype C; serum TG and LDL-C levels in 87 patients with APOE genotype E3 were (3.2±1.6)mmol/L and (3.4±1.1)mmol/L, both significantly higher than [(2.7±1.8)mmol/L and (2.8±0.8)mmol/L, respectively, P<0.05] in 12 patients with genotype E2 or [(2.3±0.7)mmol/L and (3.0±1.2)mmol/L, respectively, P<0.05] in 22 patients with genotype E4. Conclusion The gene polymorphisms of SLCO1B1 and APOE in patients with MAFLD are closely related to lipid metabolism disorders, and needs further investigation.

Key words: Metabolism-associated fatty liver disease, Single nucleotide polymorphism, Solute carrier organic anion transporter family member 1B1, Apolipoprotein E, Lipid metabolism