Introduction. 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 (MBOAT7) rs641738 variant is associated with an increased cardiovascular risk in in MAFLD patients.

Methods. We conducted an observational cross-sectional study including 77 subjects (38 MAFLD patients, 39 controls), between January-September 2020 using hepatic ultrasonography and SteatoTestTM to assess hepatic steatosis. Echocardiographic and Doppler ultrasound parameters were evaluated. Genomic DNA was extracted and rs641738 SNP was genotyped using TaqMan assays.

Results. 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]).

Conclusion. 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.


metabolic associated fatty liver disease (MAFLD); hepatic steatosis; genes; rs641738; MBOAT7; cardiovascular disease