Genetic Association of the Ins/Del Variant of ACE and Risk of Cardiomyopathy: A Case-Control Study and Updated Meta-Analysis.

Introduction: Cardiomyopathy, is a complex condition influenced by multiple genes and environmental factors. It has been suspected that cardiomyopathy is affected by the ACE gene's I/D polymorphism. Our study aimed to evaluate the association between this polymorphism and cardiomyopathy risk in the Jammu population of North India, alongside a meta-analysis to determine the specific risks associated with different types of cardiomyopathy.

Method: In the case-control study, we opted for a convenient sampling technique to gather patients from hospitals. Meanwhile, for the meta-analysis registered under PROSPERO with CRD42024519763, and in line with PRISMA guidelines, we accessed online databases and applied predefined inclusion criteria. Data extraction and quality assessment were performed using the Newcastle-Ottawa scale. Statistical analysis included genotypic frequencies, Hardy-Weinberg equilibrium testing, logistic regression models, and assessments for heterogeneity and publication bias.

Result: The case-control study revealed a significant association between the ACE I/D risk variant and cardiomyopathy risk in the Jammu population (OR: 1.30, CI [1.04-1.63], p-value=0.021). Furthermore, a total of 34 studies were fund-eligible for the meta-analysis and demonstrated a significant association between the risk variant and both dilated (OR: 1.25, CI [1.03-1.50], p-value=0.022) and hypertrophic (OR: 1.31, CI [1.0876-1.5776], p-value = 0.004446) cardiomyopathy.

Conclusion: Our study found a significant association between the I/D polymorphism and cardiomyopathy risk in the Jammu population. Further, the meta-analysis strengthens the findings by consistently linking the ACE I/D polymorphism to both dilated and hypertrophic cardiomyopathy. These results underscore the importance of genetic factors in cardiomyopathy risk assessment and further research is needed to understand the underlying mechanisms and potential therapeutic implications.