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Genetic predisposition in metabolic-dysfunction-associated fatty liver disease and cardiovascular outcomes-Systematic
Abdulrahman Ismaiel1,2, Dan L Dumitrascu1,2
1Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Background:
Despite the demonstrated increased cardiovascular (CV) risk associated with metabolic-dysfunction-associated fatty liver disease (MAFLD), genetic variants predisposing to MAFLD were not constantly associated with CV events. Recently, rs641738C > T near membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) has been studied in MAFLD and CV outcomes. Therefore, we aimed to evaluate the association between rs641738C > T in the presence and severity of hepatic steatosis, fibrosis, biochemical markers and progression to hepatocellular carcinoma (HCC), in addition to CV outcomes in MAFLD.
Materials And Methods:
An electronic search on PubMed, Embase and Cochrane Library for articles published till 23 March 2020 was systematically performed. Articles were screened, and data extracted from eligible studies by two reviewers independently.
Results:
Studies conducted on adults with MAFLD involving European, Hispanic and African American populations evaluating rs641738 reported reduced hepatic expression of MBOAT7, increased hepatic fat content, severity of MAFLD, susceptibility to develop NASH, advanced fibrosis and HCC in adults. However, most articles involving Asian individuals contradicted these findings. Studies involving obese children associated rs641738 with increased plasma alanine aminotransferase (ALT) levels, while its association with MAFLD remains inconsistent. The rs641738 variant was assessed as a MAFLD susceptibility gene in coronary artery disease (CAD) reporting neutral effects.
Conclusions:
Despite inconclusive results in Asian populations, rs641738C > T near MBOAT7 is associated with increased hepatic fat, MAFLD severity, susceptibility to develop NASH, advanced fibrosis and HCC in adults from Caucasian, Hispanic and African American ethnicities with MAFLD, as well as elevated ALT levels in children, while exerting neutral effects in CAD.
Insights
The rs641738C>T genetic variant near MBOAT7 is linked to increased fatty liver disease severity, fibrosis, and liver cancer in adults of diverse ethnicities, but not in Asian populations or coronary artery disease.
Area of Science:
- Genetics
- Hepatology
- Cardiovascular Disease
Background:
- Metabolic-dysfunction-associated fatty liver disease (MAFLD) increases cardiovascular risk.
- Genetic variants predisposing to MAFLD are not consistently linked to cardiovascular events.
- The rs641738C>T variant near MBOAT7 has been investigated for its role in MAFLD and cardiovascular outcomes.
Purpose of the Study:
- To evaluate the association of the rs641738C>T variant with MAFLD.
- To assess the variant's impact on hepatic steatosis, fibrosis, biochemical markers, and hepatocellular carcinoma (HCC) progression.
- To determine the variant's association with cardiovascular outcomes in MAFLD patients.
Main Methods:
- Systematic electronic search of PubMed, Embase, and Cochrane Library until March 2020.
- Independent screening and data extraction by two reviewers.
- Analysis of studies involving diverse ethnic populations and age groups.
Main Results:
- In European, Hispanic, and African American adults, rs641738C>T was associated with reduced MBOAT7 expression, increased hepatic fat, MAFLD severity, NASH susceptibility, advanced fibrosis, and HCC.
- Contradictory findings were observed in Asian populations.
- In obese children, the variant was linked to elevated alanine aminotransferase (ALT) levels, with inconsistent MAFLD association.
- The variant showed neutral effects on coronary artery disease (CAD) in MAFLD patients.
Conclusions:
- The rs641738C>T variant is associated with increased hepatic fat, MAFLD severity, NASH, advanced fibrosis, and HCC in non-Asian adults.
- Elevated ALT levels in children are linked to this variant.
- The variant's effect on cardiovascular outcomes in MAFLD appears neutral.
- Inconclusive results necessitate further research, particularly in Asian populations.
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