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(Circulation. 1999;99:331-333.)
© 1999 American Heart Association, Inc.

Editorial

Field of Needs

The Genetics of Stroke

Eric Boerwinkle, PhD; Peter A. Doris, PhD; Myriam Fornage, PhD

From the Human Genetics Center (E.B., M.F.) and Institute of Molecular Medicine (E.B., P.A.D., M.F.), The University of Texas–Houston Health Science Center.

Correspondence to Eric Boerwinkle, PhD, Human Genetics Center, The University of Texas–Houston Health Science Center, PO Box 20334, Houston, TX 77225. E-mail eboerwin@gsbs.gs.uth.tmc.edu

Key Words: Editorials • stroke • genetics

Stroke is the single leading cause of severe disability and the third leading cause of death in the United States.¹ A large number of studies have evaluated the prevalence of stroke in various populations, and these studies have identified sex, age, race, uncontrolled hypertension, diabetes, cigarette smoking, and family history as significant risk factors. Of the 250 000 deaths each year due to the complications of untreated hypertension, one third are due to stroke, and blood pressure control is known to reduce the risk of stroke and stroke mortality.² However, these risk factors play different roles in the 2 major stroke types, hemorrhagic and infarctive,³ infarctive being the more common type in the United States.

Twin and family studies have determined that there is a significant familial or genetic component underlying the occurrence of stroke. Analysis of twin pairs from the registry maintained by the National Academy of Sciences yielded proband concordance rates of 17.7% for monozygotic twins and 3.6% for dizygotic twins.⁴ Likewise, a large number of studies have indicated that a positive family history is a significant risk factor for future stroke among offspring.⁵ As is the case with other complex diseases, studies of the genetics of stroke need to move from arguing that genes are involved in the pathogenesis and risk of stroke toward identifying and characterizing the specific genes contributing to disease risk.

Some successes have been realized for mendelian disorders associated with stroke. For example, mutations in the human Notch 3 gene on chromosome 19p13 . . . [Full Text of this Article]

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