Association of LDLR Polymorphism with the Risk of Cardiovascular Disease LDLR Polymorphism and Cardiovascular Disease Risk
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Abstract
Background: Cardiovascular disease (CVD) is a leading cause of morbidity and mortality worldwide. Both genetic and environmental factors contribute to its development. Mutations in the LDLR gene are known to elevate plasma cholesterol levels, potentially increasing CVD risk.
Objective: This study aimed to investigate the association between the LDLR rs688 polymorphism and the risk of CVD.
Methods: A case-control study was conducted, including 100 CVD patients and 50 healthy controls. DNA was extracted from whole blood and amplified using polymerase chain reaction (PCR). Genotypic and allelic frequencies of LDLR rs688 polymorphism were determined through agarose gel electrophoresis. Lipid profiles (TC, TG, LDL-C, HDL-C, VLDL) were assessed and compared using SPSS 25 with independent t-tests and ANOVA.
Results: The frequencies of CT, CC, and TT genotypes in CVD patients were 58%, 18%, and 24%, respectively, versus 52%, 30%, and 18% in controls (p = 0.23). Lipid levels, including TC (294.38 ± 58.39 vs. 176.64 ± 15.37, p < 0.000), and TG (234.68 ± 50.11 vs. 116.32 ± 23.72, p < 0.000), were significantly higher in CVD patients.
Conclusion: The LDLR rs688 polymorphism is not significantly associated with CVD risk, despite marked dyslipidemia in CVD patients.
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