A recent study published in the journal Scientific Reports has discovered a potential genetic link between gallstone disease (GSD) and a reduced risk of coronary heart disease (CHD) and acute myocardial infarction (AMI).
GSD is a common digestive condition that has previously been associated with CHD and AMI, which is a specific type of CHD characterized by cardiac muscle necrosis caused by abrupt ischemia. Although some studies have hinted at a connection between GSD, CHD, and AMI, the specific mechanism behind this association remains unclear due to limited research.
In this study, researchers conducted a Mendelian randomization analysis to investigate the causal relationship between GSD and the risk of CHD or AMI. They gathered data from publicly available genome-wide association studies (GWAS) and biobanks, which included a large number of cases and controls from different populations.
Using instrumental variable variants significantly linked to GSD, the researchers performed several analyses to assess the causality between GSD and the risk of AMI and CHD. They also implemented techniques to eliminate confounders and outliers from their analysis.
The results of the study revealed a significant negative causal association between GSD and the risk of AMI, indicating that individuals with GSD may have a lower risk of experiencing a heart attack. However, the causal association between GSD and CHD risk was not statistically significant.
Additionally, reverse analyses were conducted to rule out the potential for reverse causality influencing the findings. These analyses confirmed that neither AMI nor CHD were major causes of GSD.
To validate their findings, the researchers also examined data from an additional gallstone disease database that included East Asian individuals, which yielded similar results to those among the Finnish population, further supporting the study’s conclusions.
The study identified a specific genetic locus, rs4245791, that may mediate the negative causal effect of GSD on AMI risk. This locus is associated with the regulation of ATP-cassette binding proteins G5 and G8 (ABCG5/8), which are believed to play a role in the protective effect of GSD against heart attacks.
Overall, these findings suggest that individuals with a genetic predisposition to GSD may have a decreased risk of experiencing AMI. The study highlights the potential for further research to investigate the underlying mechanisms of the GSD-AMI link and explore potential therapeutic implications targeting ABCG5/8 proteins.
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- Source: Coherent Market Insights, Public sources, Desk research
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