Cardiovascular diseases have been one of the major causes of mortality worldwide. Genetic factors within the underlying mechanisms are extensively studied but still remain unclear at certain points of views. This master’s thesis investigates the genetic factors as single nucleotide polymorphisms and their relationship with complex heart diseases in human populations. The study employs a comprehensive approach integrating molecular genetics, epidemiology and biostatistics to analyze diverse range of genetic variations within the reverse cholesterol pathway (RCT) playing a role in the cholesterol homeostatis. In a systematic review perspective, by conducting meta-analyses of existing clinical data in literature, the study aims to examine and identify single nucleotide polymorphisms with an increased risk of complex heart disease. Furthermore, the study aims to enrich the set of variants related to coronary heart disease (CHD) and high-density lipoprotein cholesterol (HDL-C) by determination of additional variants in linkage disequilibrium pairs and functional annotation of variants with potential effects. Publicly available clinical data regarding to the relationships of variants and their effects enabled us to explore the underlying genetic factors of higher CHD risk. The findings have the potential to improve future research directions, clinical practice, and public health initiatives aimed at reducing the global burden of cardiovascular diseases.