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Genetics and Genomics in Clinical Hematology, I: Hemostasis and Thrombosis 

Genetics and Genomics in Clinical Hematology, I: Hemostasis and Thrombosis
Chapter:
Genetics and Genomics in Clinical Hematology, I: Hemostasis and Thrombosis
Author(s):

John H. McVey

DOI:
10.1093/med/9780199896028.003.0025
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date: 29 May 2020

Vertebrates have evolved a complex system to prevent blood loss that involves coordinate vascular wall muscle contraction, cell aggregation (platelets), and the deposition of a clottable protein (fibrin). To achieve this, a complex network of positive and negative regulated reactions have evolved that result in controlled fibrin deposition and platelet activation only at the site of vascular injury without compromising blood flow through either the uninjured or damaged blood vessels. The process of coagulation and thrombosis is highly complex and involves several key proteins and co-factors encoded by specific genes and closely related molecules. Major vascular diseases predisposing to thrombosis result from disruption in any one or more such genes implicated in specific disorders (deep vein thrombosis; pulmonary embolism etc.). Understanding of these systems is key to designing and development of new generation of anti-coagulant drugs, for example clopidogrel. Insights into the basis of inter-individual heterogeneity in response to clopidogrel began with a candidate gene approach that identified a common polymorphism(s) in the cytochrome 2C19 gene (CYP2C19) associated with impaired platelet responsiveness to clopidogrel. Furthermore, GWAS identified a single genomic region on chromosome 10q24 that included the cytochrome cluster and specifically CYP2C19 as the only common variant associated with the heterogeneous response to clopidogrel although this represented only a small part of the heritability of the platelet response to clopidogrel.

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