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Coagulopathies

Coagulopathies
Coagulopathies
Several genes predisposing to thrombosis have been identified and extensively investigated as contributors to the risk of stroke at all ages and of dementia and other neurodegenerative disorders in adults. This chapter discusses polymorphisms causing prothrombotic disorders that have been studied in case control studies, metaanalyses and genome-wide association studies in large populations, including those involving the fibrinogen gene, the prothrombin G20210A mutation, and Factor V Leiden mutation. The thermolabile variant of the methylene tetrahydrofolate reductase gene, often associated with hyperhomocysteinemia which has adverse effects on the vessel wall, is also discussed as it is included in many of the studies. Associations with cerebral venous sinus thrombosis, arterial ischemic stroke, hemorrhagic stroke, migraine with aura, and neurodenegeration are discussed together with the possible link with paradoxical embolus across a patent ovale as well as vascular mechanisms. There are complex interactions with environment for the risk of neuropsychiatric disease for all of these genes.
579-593
Academic Press
Kirkham, Fenella
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58
Rosenberg, Roger
Pascal, Juan
Kirkham, Fenella
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58
Rosenberg, Roger
Pascal, Juan

Kirkham, Fenella (2020) Coagulopathies. In, Rosenberg, Roger and Pascal, Juan (eds.) Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Sixth Edition). 6 ed. Academic Press, pp. 579-593. (doi:10.1016/B978-0-12-813866-3.00034-5).

Record type: Book Section

Abstract

Several genes predisposing to thrombosis have been identified and extensively investigated as contributors to the risk of stroke at all ages and of dementia and other neurodegenerative disorders in adults. This chapter discusses polymorphisms causing prothrombotic disorders that have been studied in case control studies, metaanalyses and genome-wide association studies in large populations, including those involving the fibrinogen gene, the prothrombin G20210A mutation, and Factor V Leiden mutation. The thermolabile variant of the methylene tetrahydrofolate reductase gene, often associated with hyperhomocysteinemia which has adverse effects on the vessel wall, is also discussed as it is included in many of the studies. Associations with cerebral venous sinus thrombosis, arterial ischemic stroke, hemorrhagic stroke, migraine with aura, and neurodenegeration are discussed together with the possible link with paradoxical embolus across a patent ovale as well as vascular mechanisms. There are complex interactions with environment for the risk of neuropsychiatric disease for all of these genes.

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Coagulopathies Kirkham final with figures refs 2019 - Accepted Manuscript
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Published date: 23 June 2020

Identifiers

Local EPrints ID: 445971
URI: http://eprints.soton.ac.uk/id/eprint/445971
PURE UUID: 8235ec12-7bb1-4548-8177-39cbea5125c2
ORCID for Fenella Kirkham: ORCID iD orcid.org/0000-0002-2443-7958

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Date deposited: 18 Jan 2021 17:30
Last modified: 13 Dec 2021 02:48

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Contributors

Author: Fenella Kirkham ORCID iD
Editor: Roger Rosenberg
Editor: Juan Pascal

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