Genetic susceptibility to cerebrovascular disease: A systematic review

Abstract

Investigation of genetic susceptibility to cerebrovascular disease has been of growing interest. A systematic review of human studies assessing neurogenomic aspects of cerebrovascular disease was performed according to the preferred reporting items for systematic reviews and meta-analyses (PRISMA) statement. Any association study exploring genetic variants located in the exome associated with one of the major cerebrovascular diseases with at least 500 subjects was eligible for inclusion. Of 6874 manuscripts identified, 35 studies met the inclusion criteria. Most studies of interest focused on ischemic stroke and cerebrovascular occlusive disease. Large cohort genetic association studies on hemorrhagic cerebrovascular disease were less common. In addition to rare, well-established monogenic conditions with significant risk for cerebrovascular disease, a number of genetic variants are also relevant to cerebrovascular pathogenesis as part of a multifactorial process. The 45 polymorphisms identified were located in genes involved in processes related to endothelial and vascular health (15 (33.4%) variants), plasma lipid metabolism (10 (22.2%) variants), inflammation (9 (20%) variants), coagulation (3 (6.7%) variants), and blood pressure modulation (2 (4.4%) variants), and other (6 (13.3%) variants). This work represents a comprehensive overview of genetic variants in the exome relevant to ischemic and hemorrhagic stroke pathophysiology.

RNF213 gene silencing upregulates transforming growth factor β1 expression in bone marrow‑derived mesenchymal stem cells and is involved in the onset of Moyamoya disease

“…In addition, MSCs have the advantage of being easily obtained and reportedly exert neuroprotective effects against ischemic brain damage ( 31 ), making their use increasingly popular for basic research and clinical studies. Cerebral hemorrhage and ischemia are common pathophysiological states in neurosurgical diseases, including MMD and subarachnoid hemorrhage ( 32 ). After cerebrovascular events, neurocognitive function is impaired ( 33 ).…”

Prevalence, predictors and prognosis of incidental intracranial aneurysms in patients with suspected TIA and minor stroke: a population-based study and systematic review

“…Patients referred to acute neurovascular services for suspected TIA or minor stroke also have a greater burden of vascular risk factors and a higher susceptibility to cerebrovascular disease than the general population. 4 As cerebrovascular disease and intracerebral aneurysm development have risk factors in common, it might be expected that these patients will also have a higher burden of UIAs. However, there have been no population-based studies assessing the prevalence of UIAs in a general cerebrovascular disease cohort and none of patients with TIA and minor stroke.…”

Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants

“…These known variants were identified in the Online Mendelian Inheritance in Man (OMIM) database ( https://www.omim.org ) [ 10 ]. However, common genetic variants related to neurologic disorders, such as cerebral infarction or hemorrhage, were not included in this review [ 11 ].…”

“…It is known that 88% of rare diseases can occur in children, and 72% of rare diseases are classified as genetic diseases [ 91 ]. In cases of neurovascular disease, many genetic variants associated with relatively common diseases such as atherosclerosis, ischemic or hemorrhagic strokes, have been identified so far [ 11 ]. These common variants with modest effects contribute in a multifactorial manner to confer susceptibility.…”