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(Stroke. 2008;39:252.)
© 2008 American Heart Association, Inc.

Advances in Stroke 2007

Update on the Genetics of Stroke and Cerebrovascular Disease 2007

From the Robarts Research Institute and Schulich School of Medicine and Dentistry (R.A.H.), University of Western Ontario, London, Canada; and Neurologische Klinik (M.D.), Klinikum Groβhadern, Ludwig-Maximilians-Universität, München.

Correspondence to Robert A. Hegele, MD, FRCPC, FACP, Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, Canada N6A 5K8. E-mail hegele@robarts.ca

Key Words: cerebrovascular disease • genetics • stroke

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

The genetic story-of-the-year for 2007 is undoubtedly the dramatic and surprising success of large-scale genome-wide association (GWA) studies in finding consistent and replicable genetic markers of several complex diseases of adulthood. While GWA studies of stroke are on the verge of being reported, much can be learned already from reports of other complex diseases with robust genetic associations identified since the spring of 2007. These have included coronary artery disease (CAD),^1–6 type 2 diabetes,^3,7–9 rheumatoid arthritis,^3,10 bipolar disorder,³ Crohn disease,³ multiple sclerosis¹¹ and amyotrophic lateral sclerosis.¹² Cumulatively, these findings have begun to transform our understanding of the genetics of complex diseases. Also, these studies might help discover new biological mechanisms, diagnostic methods and treatments for complex adult diseases.^13–15

Genetic association studies, in their most common incarnation, compare cases and matched controls at the genomic level. If resources and computing power permitted, the most thorough comparison would involve direct sequence analysis of the individual 3.2 billion nucleotide bases per human genome and detection of patterns that differ statistically between the genomes of cases and controls. Although we are still a few years away from such studies, in September 2007 the first complete genomic sequence of a single human being was reported.¹⁶ This tour-de-force provided proof-of-concept that complete genomic sequencing is possible, albeit at a cost of tens of millions of dollars and hundreds of human-years of effort. However, the cost and time are expected to fall markedly and quickly.

In the absence of complete directly determined individual sequence data, current comparative . . . [Full Text of this Article]