Background: Cardiological complications are a leading cause of adverse outcomes in patients with systemic diseases. Genetic factors, particularly those influencing myocardial structure and vascular regulation, play a significant role in individual susceptibility. Polymorphisms in the COL1A1 gene are associated with myocardial fibrosis and remodeling, while variations in the EDN1 gene are linked to endothelial dysfunction and vasoconstriction. However, the combined effect of these polymorphisms on cardiovascular risk remains underexplored.

Objective: To assess the association of COL1A1 and EDN1 gene polymorphisms with the risk of developing cardiological complications and to evaluate their combined effect on structural and vascular abnormalities.

Materials and Methods: An observational case-control study included 199 participants: 102 patients with an underlying disease (subdivided into 64 with and 38 without cardiological complications) and 97 healthy controls. Cardiological complications were diagnosed based on clinical, ECG, echocardiographic, and laboratory criteria. Genotyping of COL1A1 and EDN1 polymorphisms was performed using PCR. Statistical analysis included allele frequency comparison, odds ratios (OR), and risk stratification.

Results: Carriers of the minor A allele of COL1A1 and the Asn allele of EDN1 showed a trend toward increased risk of complications (OR=1.22, 95% CI: 0.67–2.22 and OR=1.36, 95% CI: 0.70–2.64, respectively). Combined carriage of both unfavorable alleles was associated with a higher frequency of complications and demonstrated an additive risk increase compared to isolated variants.

Conclusion: Polymorphisms in COL1A1 and EDN1 are associated with an elevated risk of cardiological complications, with combined carriage resulting in additive risk. These findings support an integrated genetic approach to cardiovascular risk prediction and may inform personalized prevention strategies.

COL1A1, EDN1, gene polymorphism

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