Key result
The D allele of the ACE gene I/D polymorphism was significantly associated with an increased risk of hypertrophic cardiomyopathy compared to the I allele (OR 1.35).
Why the study?
Does the ACE gene I/D polymorphism increase the risk of hypertrophic cardiomyopathy?
Meta-Analysis (n=2,972)
Does the ACE gene I/D polymorphism increase the risk of hypertrophic cardiomyopathy?
Effect estimate: OR 1.35 (95% CI 1.10-1.65)
Absolute Event Rate: 75.5% vs 71%
p-value: p=0.004
The ACE gene I/D polymorphism, specifically the D allele and DD genotype, is significantly associated with an increased genetic risk of hypertrophic cardiomyopathy.
Should not yet guide HCM risk stratification or testing; confirms and extends candidate-gene evidence for ACE I/D.
BACKGROUND: Genetic factors in the pathogenesis of cardiomyopathies have received a lot of attention during the past 2 decades. Some studies have reported that angiotensin-converting enzyme (ACE) gene has been associated with hypertrophic cardiomyopathy (HCM). However, there have been inconsonant results among different studies. To clarify the influence of ACE on HCM, a systemic review and meta-analysis of case-control studies were performed. METHODS: The following databases were searched to indentify related studies: PubMed database, the Embase database, the Cochrane Central Register of Controlled Trials database, China National Knowledge Information database, and Chinese Scientific and Technological Journal database. Search terms included "hypertrophic cardiomyopathy," "angiotensin converting enzyme" or "ACE," and "polymorphism or mutation." RESULTS: Fifteen separate studies were suitable for the inclusion criterion. The selected studies contained 2972 participants, including 1047 in HCM group and 1925 controls. Pooled odds ratios (ORs) were calculated to assess the association between ACE insertion/deletion (I/D) polymorphism and HCM. Our case-control data indicated that D allele carrier is a risk allele in all genetic models: allele contrast (D vs I: OR = 1.35, 95% confidence interval [CI]: 1.10-1.65, P = .004), homozygous comparison (DD vs II: OR = 1.69; 95% CI: 1.12-2.54; P = .01), dominant model (DD + ID vs II: OR = 1.52, 95% CI: 1.15-2.02, P = .003), and recessive model (DD vs ID + II: OR = 1.34, 95% CI: 0.99-1.81, P = .03). CONCLUSION: In summary, the current meta-analysis provided solid evidence suggesting that ACE gene I/D polymorphism was probably a genetic risk factor for HCM.
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Yuan et al. (2017) conducted a meta-analysis in Hypertrophic cardiomyopathy (n=2,972). ACE gene I/D polymorphism (D allele) vs. I allele was evaluated on Hypertrophic cardiomyopathy risk (Allele contrast D vs I) (OR 1.35, 95% CI 1.10-1.65, p=0.004). The D allele of the ACE gene I/D polymorphism was significantly associated with an increased risk of hypertrophic cardiomyopathy compared to the I allele (OR 1.35).
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