USC researchers on Thursday announced they have identified a gene variant that decreases the risk of heart disease among women.
Hooman Allayee, senior author of the study and associate professor of preventive medicine at the Keck School of Medicine of USC, said scientists have long known that heart disease affects men and women differently, but what causes the difference has not been entirely clear. This new finding may shed light on that mystery.
“The study represents one of the first female-specific genetic associations for heart disease,” Allayee said. “Women who carried a variant of the CPS1 gene had about a 12 percent decreased risk for heart disease. But the same variant had no protective effect on men when it came to coronary artery disease.”
The study was published online Jan. 29 in the journal Nature Communications.
About half the population carries either one or two copies of the CPS1 variant, Allayee said.
The gene variant may control levels of certain metabolites found in blood. Metabolites are small molecules that cells can produce. Of the metabolites analyzed, the CPS1 variant had an especially strong effect on raising glycine levels, said Jaana Hartiala, lead author and a postdoctoral researcher at Keck Medicine of USC.
The researchers performed two genetic studies. The initial discovery was made in 6,092 men and 2,576 women from the Cleveland Clinic. The female-specific association of the CPS1 variant with heart disease was then confirmed in a second sample of 26,905 women and 26,772 men.
Heart disease is the No. 1 cause of death for both men and women in the United States, according to the Centers for Disease Control and Prevention. Men comprised more than half of the deaths due to heart disease in 2009.
Researchers from the Cleveland Clinic, the University of Ottawa Heart Institute and the University of Lübeck contributed to the study. The research was supported by grants from the National Institutes of Health, the American Heart Association and Foundation Leducq.