Genetic Association of the Ins/Del Variant of ACE and Risk of Cardiomyopathy: A Case-Control Study and Updated Meta-Analysis
Bibliographic record
Abstract
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 (odds ratio [OR]: 1.30, confidence interval [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.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.011 | 0.021 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.013 | 0.035 |
| Bibliometrics | 0.005 | 0.008 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.003 | 0.001 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".