Background: Stroke represents a complex trait, usually assumed to be multifactorial and polygenic. It is difficult for the clinician to establish the level of applicability of genetic studies. To design appropriate genetic studies we need to understand the epidemiology of stroke in Egypt. Objective: To discuss the epidemiological and genetic studies of stroke in Egypt. Methods: This review included epidemiological studies of stroke and case/control genetic studies including genotype Apo E in normal Egyptians, genetic polymorphism of acute strokes genes ACE, B-Fibrinogen, CRP, and PAI-1in Egypt; including both ischemic and hemorrhagic strokes. Results: The incidence of stroke in Upper Egypt was 1.8/1000 in year 1992 and 2.1/1000 year 2006; the prevalence in Upper Egypt was 5.08/1000 in year 2006. Male: female ratio 1.42:1 in year 2006. Family history in other study was 46% compared to controls 6.7% (P.0001) in year 2004. The most common genotype Apo E in Egyptian was E3/E3 (49.1%). ACE polymorphism was significant in acute stroke. B-fibrinogen showed no significant association with acute stroke but significant associated with family history and hypertension. There was no association of CRP polymorphism but high sensitivity CRP was significant as a predictor of stroke outcome and large size stroke. PAI-1 was significant in acute ischemic and hemorrhagic strokes. Conclusion: Family history is regarded as important risk factor for the development of acute stroke. Studies needs to consider epidemiological needs when planning to genetic studies, to include large numbers of patients, to assess stroke subtypes and to take in consideration intermediate phenotypes like hypertension and diabetes. [Egypt J Neurol Psychiat Neurosurg. 2011; 48(1): 3-9]
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