Genetics of ischemic stroke.
PMID 21063358 · Neurosciences (Riyadh, Saudi Arabia) · 2008
Stroke is the third leading cause of death and a major cause of disability worldwide. Most cases of ischemic stroke are attributable to hypertension and other risk factors, but in over 20% of cases, the cause is unknown. Recent research has implicated some novel genes in the etiology of ischemic stroke, including genes for soluble epoxide hydrolase (sHE), 5-lipoxygenase activating protein (FLAP) and phosphodiesterase 4D (PDE4D). Moreover, thrombophilic states such as prothrombin G20210A mutation and factor V Leiden are now known to cause arterial stroke as well as venous thrombosis. Meanwhile, the recent availability of enzyme replacement therapy for Fabry disease and the proven benefits of regular blood transfusion in certain patients with sickle cell disease have greatly altered the outlook of these devastating inherited disorders. Thus, our understanding of the role of genetic factors in stroke raises the prospects for accurate assessment of future stroke risk among susceptible individuals, in whom early preventive measures may be life-saving. Further research into the genetics of stroke will clearly compliment ongoing national and international efforts to reduce the global burden of stroke.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PDE4D | “Recent research has implicated some novel genes in the etiology of ischemic stroke, including genes for soluble epoxide hydrolase (sHE), 5-lipoxygenase activating protein (FLAP) and phosphodiesterase 4D (PDE4D).” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Genetics of ischemic stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Most cases of ischemic stroke are attributable to hypertension and other risk factors, but in over 20% of cases, the cause is unknown.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | sickle cell disease | “Meanwhile, the recent availability of enzyme replacement therapy for Fabry disease and the proven benefits of regular blood transfusion in certain patients with sickle cell disease have greatly altered the outlook of these devastating inherited disorders.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Fabry disease | “Meanwhile, the recent availability of enzyme replacement therapy for Fabry disease and the proven benefits of regular blood transfusion in certain patients with sickle cell disease have greatly altered the outlook of these devastating inherited disorders.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | G20210A | “Moreover, thrombophilic states such as prothrombin G20210A mutation and factor V Leiden are now known to cause arterial stroke as well as venous thrombosis.” | 0.82 | literature_variant_regex_v2 |