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MBOAT7 rs641738 variant in metabolic-dysfunction-associated fatty liver disease and cardiovascular risk
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.
Insights
The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) rs641738 variant is not associated with metabolic-dysfunction-associated fatty liver disease (MAFLD). While initially showing a link to cardiovascular risk and liver function in univariate analysis, these associations were not significant in multivariate analysis.
Area of Science:
- Genetics
- Cardiology
- Hepatology
Background:
- Metabolic-dysfunction-associated fatty liver disease (MAFLD) increases cardiovascular risk, but genetic links to cardiovascular events are unclear.
- The MBOAT7 rs641738 variant's role in MAFLD and associated cardiovascular risk requires investigation.
Purpose of the Study:
- To determine if the MBOAT7 rs641738 variant is associated with increased cardiovascular risk in patients with MAFLD.
Main Methods:
- An observational cross-sectional study included 77 participants (38 MAFLD patients, 39 controls).
- Hepatic steatosis was assessed using hepatic ultrasonography and SteatoTest.
- Echocardiographic, Doppler ultrasound, and genetic analyses (rs641738 SNP genotyping) were performed.
Main Results:
- The rs641738 variant showed no significant association with MAFLD across different genetic models (p > 0.05).
- The overdominant genotype of rs641738 initially predicted atherosclerotic cardiovascular disease (ASCVD) risk (univariate p=0.048) but lost significance in multivariate analysis (p=0.053).
- The recessive genotype of rs641738 initially predicted ActiTest (univariate p=0.009) but lost significance in multivariate analysis (p=0.105).
Conclusions:
- No significant association was found between the MBOAT7 rs641738 variant and MAFLD in this cohort.
- Initial univariate associations with ASCVD risk and ActiTest were not sustained after multivariate adjustment, suggesting no independent predictive value.
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