Human genome sequence variation and the search for genes influencing stroke

Technological progress spurred by the Human Genome Project is accelerating the pace of genetic studies of common diseases, including stroke. Stroke clinicians will soon need to interpret increasingly complex genetic studies.

Linkage analysis and epidemiological association are 2 fundamental methods of identifying gene variants affecting common diseases such as stroke. Combining these methods with advanced molecular genetic techniques, 3 recently published studies have made important contributions to the genetics of common vascular diseases: identification of the location of a gene for stroke on chromosome 5q12 and identification of gene variants that may increase risk of myocardial infarction. Driven by genomic technology, future studies will be increasingly comprehensive and systematic in their assessment of the contribution of genetics to the clinical course of stroke. The scale and complexity of such studies will require large-scale collaboration among stroke physicians, geneticists, and biostatisticians.

Rapid improvements in technology and study design are likely to elucidate the role of inherited genetic variation in complex diseases such as stroke. Understanding the methods of population-based genetic investigation and the patterns of human genome variation will enable stroke physicians to follow these future developments.