Perspective - (2025) Volume 9, Issue 6
Received: 01-Nov-2025, Manuscript No. jgdr-26-179213;
Editor assigned: 03-Nov-2025, Pre QC No. P-179213;
Reviewed: 17-Nov-2025, QC No. Q-179213;
Revised: 24-Nov-2025, Manuscript No. R-179213;
Published:
29-Nov-2025
, DOI: 10.37421/2684-6039.2025.09.295
Citation: Boateng, Samuel K.. ”Genetic and Molecular Determinants of Cardiovascular Diseases.” J Genet DNA Res 09 (2025):295.
Copyright: © 2025 Boateng K. Samuel This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
Cardiovascular diseases (CVDs) represent a leading cause of global morbidity and mortality, necessitating a deep understanding of their complex etiology. Recent advancements in molecular biology and genetics have significantly illuminated the underlying mechanisms driving these conditions, offering new avenues for diagnosis and treatment. This review aims to synthesize current knowledge on the molecular underpinnings of CVDs, focusing on genetic predispositions and their impact on disease development [1].
The identification of specific gene variants has been pivotal in understanding inherited cardiomyopathies. These mutations can profoundly alter the structure and function of the heart muscle, leading to conditions such as hypertrophic and dilated cardiomyopathy. Research into these genetic mutations is crucial for early detection and family screening programs [2].
Hypertension, a widespread cardiovascular risk factor, is increasingly recognized as a polygenic disorder influenced by both genetic makeup and environmental interactions. Genome-wide association studies are pinpointing candidate genes involved in critical regulatory pathways, such as the renin-angiotensin-aldosterone system, providing insights into predicting susceptibility [3].
Atherosclerosis, a chronic inflammatory disease of the arteries, is also subject to intricate molecular regulation. MicroRNAs have emerged as critical players, influencing key cellular processes like lipid metabolism and inflammatory responses. Their role in disease pathogenesis suggests potential as diagnostic biomarkers [4].
Atrial fibrillation, a common cardiac arrhythmia, is associated with specific genetic mutations that affect ion channel function and atrial structure. Understanding these genetic determinants is vital for risk assessment and provides a basis for genetic counseling in affected families [5].
Beyond inherited mutations, epigenetic modifications play a substantial role in cardiovascular disease progression. Mechanisms such as DNA methylation and histone modifications can alter gene expression in response to environmental factors, contributing to conditions like atherosclerosis and heart failure [6].
The interplay between lipid metabolism and cardiovascular risk is deeply rooted in genetics. Variations in genes responsible for cholesterol transport and metabolism can lead to dyslipidemia, a significant contributor to atherosclerosis, underscoring the importance of genetic profiling for managing hypercholesterolemia [7].
Ischemic heart disease, a major manifestation of CVD, is influenced by non-coding RNAs, particularly long non-coding RNAs (lncRNAs). These molecules regulate crucial cellular responses to ischemia, including inflammation and repair, presenting potential therapeutic targets [8].
Congenital heart defects (CHDs), present from birth, have a complex genetic basis involving signaling pathways and transcription factors critical for cardiac development. Both rare and common genetic variants contribute to CHDs, impacting prenatal diagnosis and intervention strategies [9].
Finally, the integration of genetic information through polygenic risk scores (PRS) is transforming cardiovascular risk prediction. By aggregating the effects of multiple genetic variants, PRS can enhance the identification of individuals at high risk for conditions such as coronary artery disease, paving the way for personalized preventive strategies [10].
Cardiovascular diseases (CVDs) are a multifaceted group of disorders with complex genetic and molecular underpinnings that are progressively being elucidated. The study of genetic factors provides a foundational understanding of how inherited predispositions translate into clinical conditions like atherosclerosis, hypertension, and cardiomyopathies, highlighting the significance of specific gene variants, epigenetic modifications, and non-coding RNAs in disease pathogenesis and their implications for diagnostic and therapeutic strategies [1].
The genetic landscape of inherited cardiomyopathies is being mapped with increasing precision, revealing novel variants in sarcomeric protein genes that are directly linked to hypertrophic and dilated cardiomyopathy. These identified mutations disrupt myocardial structure and function, offering critical insights into disease onset and progression, and underscoring the value of genetic screening within affected families [2].
Essential hypertension, a primary modifiable risk factor for CVD, is significantly influenced by genetic architecture. Research is actively exploring the interplay between common genetic variants and environmental factors, identifying candidate genes within key physiological systems like the renin-angiotensin-aldosterone system and focusing on their contribution to polygenic risk scores for hypertension susceptibility and personalized medicine approaches [3].
Atherosclerosis, characterized by plaque buildup in arteries, involves intricate regulatory mechanisms at the molecular level, with microRNAs playing a prominent role. Specific microRNAs have been shown to modulate lipid metabolism, inflammatory cascades, and endothelial cell function, positioning circulating microRNAs as potential biomarkers for early detection and risk stratification in atherosclerotic cardiovascular disease [4].
The genetic predisposition to atrial fibrillation is closely examined, with a particular focus on variants within genes encoding ion channels and structural proteins. These genetic alterations are known to contribute to abnormal atrial electrical activity and structural remodeling, emphasizing the importance of genetic counseling for individuals with a family history of this arrhythmia [5].
Epigenetic mechanisms, including DNA methylation and histone modifications, are crucial in modulating gene expression patterns associated with cardiovascular disease. Environmental exposures can induce persistent changes in gene regulation, thereby contributing to the pathogenesis of atherosclerosis and heart failure, with emerging potential for epigenetic therapies [6].
The genetic determinants of lipid metabolism are central to understanding cardiovascular risk. Key genes involved in cholesterol transport and metabolism are continuously being identified, and variations within these genes are understood to contribute to dyslipidemia, a major risk factor for atherosclerosis, with significant implications for hypercholesterolemia management strategies [7].
Ischemic heart disease pathogenesis is significantly influenced by non-coding RNAs, especially long non-coding RNAs (lncRNAs). Research demonstrates that specific lncRNAs play a role in regulating cellular responses to ischemia, including inflammation and vascular repair mechanisms, highlighting their potential as therapeutic targets [8].
Congenital heart defects (CHDs) are understood to arise from a complex genetic basis involving critical signaling pathways and transcription factors essential for cardiac development. The contribution of both rare and common genetic variants to CHDs is being investigated to improve prenatal diagnosis and develop targeted interventions [9].
Polygenic risk scores (PRS) are gaining traction for their utility in cardiovascular disease prediction. These scores integrate the cumulative effects of numerous common genetic variants to forecast an individual's risk of developing conditions like coronary artery disease and myocardial infarction, with ongoing evaluation of their clinical utility and future applications [10].
Cardiovascular diseases (CVDs) are influenced by a complex interplay of genetic and molecular factors. Research is actively identifying gene variants associated with inherited cardiomyopathies, hypertension, atrial fibrillation, and congenital heart defects, revealing their roles in disease pathogenesis. MicroRNAs and long non-coding RNAs are emerging as key regulators in atherosclerosis and ischemic heart disease, respectively. Epigenetic modifications also contribute significantly to CVD development. Genetic determinants of lipid metabolism are crucial for understanding atherosclerosis risk. Polygenic risk scores are being developed to predict individual susceptibility to various CVDs, paving the way for personalized medicine and targeted interventions. Advances in understanding these molecular mechanisms are critical for improving diagnostic strategies and developing novel therapeutic approaches.
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