Polygenic diseases
DOI:
https://doi.org/10.12775/JEHS.2025.77.58225Keywords
Polygenic diseases, Gene polymorphism, Single nucleotide polymorphisms, Type 2 diabetes, Preeclampsia, Breast cancer, Athletic genetics, Nutrigenetics, Sports genomics, Personalized medicine, Genetic markers, DNA methylation, Epigenetics, Exercise genetics, Sports injuriesAbstract
Background: Recent advances in molecular genetics have revolutionized our understanding of hereditary diseases, particularly polygenic (multifactorial) conditions. This comprehensive review examines the genetic basis of common polygenic diseases, including diabetes, preeclampsia, breast cancer, and factors influencing athletic performance.
Material and Methods: Analysis of current literature covering genetic aspects of polygenic diseases, focusing on gene polymorphisms, single nucleotide polymorphisms (SNPs), and their role in disease development. The review encompasses nutrigenetics, sports genomics, and genetic markers associated with athletic performance and injury risk.
Results: Gene polymorphisms significantly impact disease susceptibility and progression. For type 2 diabetes, over 600 candidate genes have been identified. In preeclampsia, multiple genes influence maternal-fetal interactions and vascular function. Breast cancer involves complex interactions between high and moderate penetrance genes, with over 300 SNPs identified. Athletic performance is influenced by both genetic factors (approximately 66%) and environmental conditions, with specific genetic markers associated with endurance, strength, and injury risk.
Conclusions: Polygenic diseases result from complex interactions between multiple genes and environmental factors. Understanding these interactions enables more effective personalized approaches to prevention, diagnosis, and treatment. Integration of genetic testing into clinical practice offers opportunities for improved patient outcomes through targeted interventions and personalized medicine strategies.
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