Genes predict stroke risk with sickle cell anemia

Researchers have come up with a genetic test that is highly accurate in predicting strokes in patients with sickle cell anemia, a disorder in which blood cells assume a sickle shape causing circulatory problems.

The test looks for variations in genes called single nucleotide polymorphisms, or SNPs. Using just the right combination of SNPs, the investigators created a test that was 98-percent accurate in predicting Stroke in sickle cell patients.

“Although further investigation is required to establish the causative role of these genetic markers, our results support the emerging hypothesis that stroke in individuals with sickle cell anemia is a complex trait caused by the interaction of multiple genes,” study co-author Dr. Marco F. Ramoni, from Harvard Medical School in Boston, and colleagues note.

As reported in the science journal Nature Genetics, the researchers analyzed 108 SNPs in 39 genes in nearly 1400 sickle cell patients. From this, they uncovered 31 SNPs in 12 genes that seemed to influence the risk of Stroke.

As noted, the final test was able to predict stroke with 98 percent accuracy in a test group of 114 patients.

Some of the SNPs the researchers identified have been linked to stroke in the past. Therefore, the authors believe that the current findings could have implications for stroke patients, in general, not just those with sickle cell anemia. “Our model may offer some insights into the genetic basis of the third leading cause of death in the US,” they add.

SOURCE: Nature Genetics, March 20, 2005.

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Revision date: June 14, 2011
Last revised: by David A. Scott, M.D.