Ismaiel Abdulrahman, Spinu Mihail, Osan Sergiu, Leucuta Daniel-Corneliu, Popa Stefan-Lucian, Chis Bogdan Augustin, Farcas Marius, Popp Radu A, Olinic Dan Mircea, Dumitrascu Dan L
Med Pharm Rep. 2023 Jan;96(1):41-51. doi: 10.15386/mpr-2504. Epub 2023 Jan 25.
Although metabolic-dysfunction-associated fatty liver disease (MAFLD) is associated with an increased cardiovascular risk, MAFLD predisposing genetic variants were not steadily related to cardiovascular events. Therefore, we aimed to assess whether membrane-bound O-acyltransferase domain-containing 7 () rs641738 variant is associated with an increased cardiovascular risk in in MAFLD patients.
We conducted an observational cross-sectional study including 77 subjects (38 MAFLD patients, 39 controls), between January-September 2020 using hepatic ultrasonography and SteatoTest to assess hepatic steatosis. Echocardiographic and Doppler ultrasound parameters were evaluated. Genomic DNA was extracted and rs641738 SNP was genotyped using TaqMan assays.
The rs641738 variant was not significantly associated with MAFLD, with a p-value of 0.803, 0.5265, 0.9535, and 0.5751 for codominant, dominant, recessive, and overdominant genotypes, respectively. The rs641738 variant overdominant genotype significantly predicted atherosclerotic cardiovascular disease (ASCVD) risk algorithm in univariate analysis (-4.3 [95% CI -8.55 - -0.55, p-value= 0.048]), but lost significance after multivariate analysis (-3.98 [95% CI -7.9 - -0.05, p-value= 0.053]). The rs641738 variant recessive genotype significantly predicted ActiTest in univariate analysis (0.0963 [95% CI 0.0244 - 0.1681, p-value= 0.009]), but lost significance after multivariate analysis (0.0828 [95% CI -0.016 - 0.1816, p-value= 0.105]).
No significant association was observed between rs641738 variant and MAFLD in the studied population. The rs641738 variant was found to predict ASCVD risk score and ActiTest in univariate linear regression analysis. However, the significance of both associations was lost after performing multivariate analysis.
尽管代谢功能障碍相关脂肪性肝病（MAFLD）与心血管疾病风险增加有关，但MAFLD的易感基因变异与心血管事件并无稳定关联。因此，我们旨在评估含膜结合O-酰基转移酶结构域7（）rs641738变异是否与MAFLD患者心血管疾病风险增加相关。
我们于2020年1月至9月进行了一项观察性横断面研究，纳入77名受试者（38例MAFLD患者，39名对照），使用肝脏超声和SteatoTest评估肝脂肪变性。评估超声心动图和多普勒超声参数。提取基因组DNA，并使用TaqMan分析对rs641738单核苷酸多态性进行基因分型。
rs641738变异与MAFLD无显著关联，共显性、显性、隐性和超显性基因型的p值分别为0.803、0.5265、0.9535和0.5751。rs641738变异超显性基因型在单因素分析中显著预测动脉粥样硬化性心血管疾病（ASCVD）风险算法（-4.3[95%CI -8.55 - -0.55，p值=0.048]），但在多因素分析后失去显著性（-3.98[95%CI -7.9 - -0.05，p值=0.053]）。rs641738变异隐性基因型在单因素分析中显著预测ActiTest（0.
