The study is the first to identify common genetic variants influencing stroke risk in the United States and may lead to better treatments, they reported on Wednesday.

While other stroke-related genes have been discovered, none involved such a wide portion of the population, said Eric Boerwinkle of The University of Texas Health Science Center.

“This is a first step in unraveling the genetic contributions of this debilitating disease,” said Boerwinkle, whose team was one of several contributing to the study published in the New England Journal of Medicine.

Stroke is the third-leading cause of death in the United States and causes serious long-term disabilities for many worldwide.

Boerwinkle said the teams found two genetic variants on chromosome 12 near two genes that are implicated in stroke. One, called WNK1, is associated with blood pressure control and the other, NINJ2, is linked with brain injury repair.

The two genes, next to each other, both are also strongly linked with ischemic stroke, which is the most common type of stroke and is caused by blocked blood vessels in the brain.

Boerwinkle said it is not clear which specific gene is implicated, but he said the most likely suspect is NINJ2.

They found two single-letter changes in the DNA, known as single nucleotide polymorphisms or SNPs — pronounced “snips” — near NINJ2 that seem to send the strongest stroke “signal.” One is found in about 20 percent of whites they checked and 10 percent of African-Americans.

Having just one copy of this genetic variation can raise the risk of ischemic strokes by about 30 percent, he said — although the study says it is unlikely the SNPs are the actual cause of stroke but probably associated with the actual genetic cause.

The findings come from an analysis of the genetic code of more than 19,000 people in the United States and Europe taking part in four long-term studies of cardiovascular risks.

The teams were looking for SNPs among 1,544 people who had strokes, compared with 18,058 people who did not.

Boerwinkle said more work needs to be done to sort out which genes are at play, but he said the findings should give drug companies a new target for researching better treatments.

Dr. Walter Koroshetz, deputy director of the U.S. National Institute of Neurological Disorders and Stroke, which supported the study, said the findings are not strong enough to alter a patient’s stroke prevention strategy.

But he said the results “will lead scientists to direct their attention to new, important biologic mechanisms and hopefully new treatments to prevent stroke.”

Scientists uncover genetic risks for stroke

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Neuroscientists at the Indiana University School of Medicine “combined data from the latest large-scale international gene hunting studies for bipolar disorder with information from their own studies and have identified the best candidate genes for the illness,” the university said Friday in a release.

The findings are published online in the American Journal of Medical Genetics.

Lead author Dr. Alexander B. Niculescu III, a practicing psychiatrist and molecular geneticist, said researchers will now work on creating a genetic risk score that can used to identify patients before the illness manifests itself.

Niculescu said genetic testing could also be used in combination with blood biomarkers for the disease to develop personalized treatments.

UPI.com

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Researchers including Abbas Dehghan, MD, of Erasmus Medical Center in the Netherlands report that news in tomorrow’s online edition of The Lancet.

Dehghan’s team studied gene data from three long-term health studies that together included more than 26,700 participants in the U.S. and the Netherlands.

The key findings:

* Two new gout genes. Gout and high uric acid concentration were linked to certain variations in the ABCG2 or SL17A3 genes.
* Another gout gene confirmed. The researchers confirmed that a variation in the SLC2A9 gene is linked to uric acid concentration and gout risk.
* Gout gene risk score. The researchers calculated participants’ odds of having gout, based on how many of the gout gene variants they had.

Each gene variant, by itself, carried a “modest” risk of gout, but together, those variants drove gout risk up higher. The findings held regardless of other factors that make gout more likely.

In their report, Dehghan and colleagues suggest that their genetic risk score might help predict who will develop gout. The researchers also write that the genes they identified “could be useful” in developing new drugs to improve gout treatment.

It’s not clear if the genetic risk score will catch on, and scientists don’t yet know exactly what the two new gout genes do, but the discoveries may lead to better understanding of gout, according to an editorial published with the study. The editorialists included Martin Aringer, MD, of Germany’s Technical University of Dresden.

2 New Gout Genes Discovered

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