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Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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Non-coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes.

Luca Stefanucci1,2,3, Mattia Frontini1,2,3,4

  • 1Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.

Journal of Thrombosis and Haemostasis : JTH
|May 6, 2022
PubMed
Summary

Genetic variants in non-coding DNA, particularly enhancers and super-enhancers, significantly impact gene expression and are linked to inherited thrombotic and hemostatic disorders. Understanding these regulatory elements is crucial for disease research.

Keywords:
endothelial cellsgene regulationhemostasismegakaryocytessuper-enhancerthrombosis

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Area of Science:

  • Genomics and Molecular Biology
  • Transcriptional Regulation
  • Human Genetics

Background:

  • Genome-wide association studies (GWAS) highlight that most disease-associated genetic variants affect gene expression by altering regulatory elements.
  • Gene expression regulation is complex, involving genome organization, DNA interactions, and epigenetics, expanding beyond simple gene-element relationships.
  • Next-generation sequencing has advanced understanding of gene expression principles genome-wide.

Purpose of the Study:

  • To review the role of non-coding genomic features in transcriptional regulation.
  • To examine how alterations in these features lead to inherited thrombotic and hemostatic phenotypes.
  • To emphasize the specific roles of enhancers and super-enhancers in these disorders.

Main Methods:

  • Review of existing literature on genome-wide association studies (GWAS) and gene expression regulation.
  • Analysis of non-coding genomic elements, including enhancers and super-enhancers.
  • Focus on case studies involving rare genetic variants in inherited thrombotic and hemostatic diseases.

Main Results:

  • Non-coding elements, especially enhancers and super-enhancers, are critical for transcriptional regulation.
  • Dysregulation of these elements by genetic variants is a key mechanism in inherited thrombotic and hemostatic disorders.
  • Elucidating locus-specific regulatory mechanisms requires integrated experimental evidence and study of rare disease variants.

Conclusions:

  • Alterations in non-coding regulatory elements, particularly enhancers and super-enhancers, are significant contributors to inherited thrombotic and hemostatic diseases.
  • Further research into these elements is essential for understanding disease pathogenesis and developing therapeutic strategies.
  • Integrating diverse lines of evidence, including rare genetic variants, is vital for comprehensive understanding.