The role of genetics in stroke

Abstract

Stroke is a leading cause of death and disability in developed countries. While both modifiable and non-modifiable risk factors are acknowledged, studies have shown that these may account for just 50% of stroke risk and that other factors, including genetic ones, may be important. Over recent years family history, twin and candidate gene studies have supported this and various mendelian stroke syndromes have now been identified in humans. This article provides an up-to-date summary of the common single gene disorders associated with stroke as a principle manifestation, including their genetic basis, pathogenesis, presentation and suggested management. Often these disorders present with stroke at a young age; this article provides a practical approach to the management and investigation of a young stroke patient.

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

“…Increasing evidence suggests that there is a significant genetic predisposition to stroke, with more convincing findings through several single gene disorders in young patients (3). To identify these single genes and study the pathogenesis of cerebrovascular disorders caused by the alteration of these genes will not only help the disease diagnosis and treatment in the affected patients, but also potentially provide valuable information in understanding the pathophysiology of cerebrovascular diseases in general.…”

The rs42524 COL1A2 polymorphism is associated with primary intracerebral hemorrhage in a Chinese population

“…The acquired risk factors include cigarette smoking, hypertension, diabetes, obesity, triglyceride levels and psychiatric morbidity. 4,5 The pathogenesis of PICH remains unknown, and genetic factors may play an important role.…”

<i>NOS</i>3 894G > T Gene Polymorphism: A Potential Risk Factor of Stroke in Bahraini Patients

“…Stroke is a multifactorial disease, results from a combination of several risk factors, both environmental and genetic factors [7] [8] [9] [10] [11]. Nitric oxide synthase3 gene (NOS3) of the endothelial cell "located on chromosome 7 (7q36) has received a considerable attention as Nitic oxide (NO), a powerful short-lived vasoactive substance, is constitutively produced from L-arginine by the enzyme eNOS [12].…”