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(Stroke. 2003;34:2516.)
© 2003 American Heart Association, Inc.

Comments, Opinions, and Reviews

Editorial Comment—The Pendulum’s Swing: The Way Forward in the Genetics of Stroke

Department of Biological and Biomedical Sciences, Aga Khan University Medical College, Karachi, Pakistan

An extract of the first 250 words of the full text is provided, because this article has no abstract.

In a field that has been paved with frustration because of inconsistent reports, the review article by Rosand and Altshuler¹ comes at the right time. It is refreshing to see that the authors rightly adopt an optimistic view on the prospects of molecular genetic studies in unraveling the molecular and genetic architectures of stroke.

In a nutshell, the goal of molecular genetic investigations is to identify genetic mutations that confer an individual’s genetic susceptibility to the disorder. The identification of causative mutations forms the basis for diagnostic and prognostic tests. It also allows us to comprehend the molecular etiology and pathophysiology of the disorder, which in turn serves as a springboard for the development of therapeutic modalities that are tailored to the yet-to-be-discovered molecular abnormalities. So much for the easy part. Stroke indeed, as all other complex disorders, is underscored by the combined effects of several to many genes with reduced penetrance. Furthermore, it is likely that different sets of deleterious genes contribute to the disease in different populations or families. How we should go about identifying susceptibility genes remains a burning issue.

Twenty years ago, the general opinion was that, if researchers wanted to characterize genetic effects of diseases (of monogenic types), they had to strictly adhere to linkage analysis procedures. One of the revolutions of molecular geneticists in the 1980s was to show that modern tools of recombinant DNA technologies could be applied to the unraveling of complex (then called multifactorial) disorders, whereby polygenic factors interplay with . . . [Full Text of this Article]