Genetics of cardiovascular disease: genes and polymorphisms in pathways underlying atherosclerosis and clinical events

BACKGROUND: Cardiovascular diseases (CVD) remain the leading cause of morbidity and mortality worldwide and arise from a complex interplay of environmental, metabolic and genetic factors. Over the past decades, advances in genomic research, particularly genome-wide association studies (GWAS) and high-throughput sequencing, have identified numerous genetic loci associated with cardiovascular risk. These discoveries have greatly expanded our understanding of the genetic architecture of CVD, yet the functional roles of many associated genes and their integration within relevant biological pathways remain incompletely understood. AIM OF REVIEW: This review aims to compile current evidence on genes and polymorphisms associated with cardiovascular disease and to organize these findings within a pathway-oriented framework that classifies GWAS-identified genes according to the biological processes in which they are involved. By integrating these genetic associations into their functional biological context, the review provides a structured perspective on the mechanisms linking genetic variation to atherosclerosis and cardiovascular events. KEY SCIENTIFIC CONCEPTS OF REVIEW: The genetic architecture of CVD reflects a complex network of interacting genes that contribute to the development and progression of atherosclerosis. Rather than acting independently, many genes exert pleiotropic effects and participate in interconnected biological mechanisms involved in cardiovascular pathology. In this review, genetic associations are interpreted within a pathway-oriented framework that organizes both established and emerging genes according to their functional roles in cardiovascular biology, and highlights the interconnection between the biological processes underlying disease development. By integrating these findings, this review provides an integrated perspective on how genetic variation contributes to the molecular mechanisms underlying CVD, and offers a framework for interpreting genetic discoveries within the biological pathways that drive atherosclerosis and cardiovascular events.