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Published on: May 5, 2018
Cardiovascular disease and heritability of the prothrombotic state
1Division of Diabetes and Cardiovascular Research, Leeds Institute for Genetics, Health and Therapeutics, LIGHT Laboratories, University of Leeds, Leeds, United Kingdom.
Insights
Genetic factors significantly influence atherothrombotic disease risk. This review explores genetic variations in clotting factors and gene-environment interactions to improve prevention and treatment strategies for this common condition.
Area of Science:
- Cardiovascular Genetics
- Thrombosis Research
- Molecular Medicine
Background:
- Atherothrombotic disease is a leading cause of global mortality.
- Family studies indicate a substantial genetic contribution to disease development.
- Thrombus formation, the final stage of atherothrombosis, is influenced by genetic and environmental factors.
Purpose of the Study:
- To review the genetic factors regulating thrombosis potential.
- To examine the impact of genetic variations on atherothrombotic disease development.
- To highlight gene-gene and gene-environment interactions in thrombosis.
Main Methods:
- Review of existing literature on genetic polymorphisms in clotting factors.
- Analysis of studies investigating gene-gene interactions in thrombotic conditions.
- Examination of gene-environment interactions influencing atherothrombosis.
Main Results:
- Common genetic polymorphisms in clotting factors affect thrombosis potential.
- Complex gene-gene interactions play a role in atherothrombotic disease predisposition.
- Gene-environment interactions significantly modify the risk of thrombotic events.
Conclusions:
- Understanding genetic predispositions is crucial for deciphering atherothrombotic disease pathophysiology.
- Elucidating complex genetic and environmental interactions can lead to novel preventative strategies.
- Genetic insights are vital for developing targeted treatments for atherothrombotic conditions.
Abstract:
Atherothrombotic disease remains a major cause of mortality worldwide, and family clustering suggests an important contribution of genetic factors to disease pathogenesis. Thrombus formation represents the final step in atherothrombosis, a process influenced by genetic and environmental factors. A major difficulty of investigating the genetic regulation of thrombotic conditions is the complexity of the phenotype and the relatively modest effects of individual genetic variations. We address in this review genetic aspects involved in regulating thrombosis potential and their impact on the development of atherothrombotic disease. The effects of common genetic polymorphisms in clotting factors are discussed and examples of complex gene-gene and gene-environment interactions are highlighted. Understanding the effects of genetic factors on predisposition to thrombotic disease and unravelling the complex gene-environment interactions will help to better understand the pathophysiology of this complex condition, which will enable the development of new preventative and treatment strategies.
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