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(Stroke. 2003;34:342.)
© 2003 American Heart Association, Inc.

Advances in Stroke 2002

Stroke Genetics Update

Mark J. Alberts, MD

From the Northwestern University Medical School, Chicago, Ill.

Correspondence to Mark J. Alberts, MD, Northwestern University Medical School, 710 N. Lake Shore Dr, Room 1420, Chicago, IL 60611. E-mail m-alberts@northwestern.edu

Key Words: Key Words: • genetics • mutation • polymorphism

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

The genetics of cerebrovascular disease is an area of increasing interest and advances. During the past year there have been a number of significant discoveries in the area that have increased our knowledge and understanding of the importance of genetics factors in the epidemiology of, etiology of, pathophysiology of, and recovery from cerebrovascular disease. This review will highlight some of the publications that have advanced our knowledge in these areas.

Genetic Linkage Studies

One of the most significant advances in understanding stroke etiology and genetics was reported by the deCode group based in Iceland. In that country, there exist medical data on many multigenerational families with a variety of common disorders (ie, heart disease, stroke, diabetes, asthma). Using these extensive family resources, the deCode researchers conducted a genome-wide screen on 179 pedigrees with at least 2 members having mostly ischemic strokes. Patients with subarachnoid hemorrhage were excluded, but a few patients with intracerebral hemorrhage were included in the initial screen. Evidence for linkage was found to a region of chromosome 5 (5q12) with a logarithm of odds (LOD) score of 4.40 at marker D5S2080. When the patients with intracerebral hemorrhage (ICH) were excluded, the LOD score increased to 4.86 at the same locus.¹

There are many possible candidate genes in the area of established linkage. The researchers have indicated that they have identified a very promising gene within this region that has an important function related to vascular stability. It will be most interesting to see the actual identity and function of this . . . [Full Text of this Article]

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