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DOI: 10.1055/s-2006-933308
Ischemic Stroke as a Complex Genetic Disorder
Publikationsverlauf
Publikationsdatum:
15. Februar 2006 (online)
![](https://www.thieme-connect.de/media/sin/200601/lookinside/thumbnails/10.1055-s-2006-933308-1.jpg)
ABSTRACT
Ischemic stroke is a complex genetic disorder, diverse in pathophysiology and clinical presentation. This phenotypic diversity may reflect genotypic diversity. One approach to discovering genetic risk factors has been to study intermediate phenotypes as in carotid intima-media thickness and leukoaraiosis. Intermediate phenotypes can be highly heritable, assessed in stroke-affected and unaffected individuals, and analyzed as quantitative traits. Because there is not a one-to-one relationship between intermediate phenotypes and ischemic stroke, polymorphisms or haplotypes associated with an intermediate phenotype should be validated as risk factors for stroke itself. A complementary approach to gene discovery has been to fractionate the ischemic stroke phenotype into more homogeneous subphenotypes. Family history studies suggest that some subphenotypes like cardioembolic stroke may be less heritable than others.
KEYWORDS
Ischemic stroke - phenotypic variability - family history - classification - genetic research - genomic research - intermediate phenotypes
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James F MeschiaM.D.
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224