Researchers from the University of Southern California have made a fascinating discovery in the world of genetics and heart health.
They’ve identified a variant of a gene known as CPS1, which seems to decrease the risk of heart disease – but only in women!
Dr. Hooman Allayee, the main author of the study, explained that it has been known for a while that heart disease affects men and women differently. However, the reasons behind these differences have been hard to understand.
This groundbreaking discovery could provide some answers to this puzzling question.
Dr. Allayee highlighted the significance of their study by stating that it represents one of the first female-specific genetic links to heart disease. Women carrying this CPS1 variant had roughly 12% less risk of heart disease.
Surprisingly, men carrying the same gene variant didn’t experience any protective effects against heart disease.
This research is a big deal because heart disease is the leading cause of death for both men and women in the United States, according to the Centers for Disease Control and Prevention.
Dr. Allayee also revealed that about half of the people in the world carry either one or two copies of this gene variant. The variant is thought to control the levels of certain small molecules called metabolites in the blood.
Jaana Hartiala, lead author and a postdoctoral researcher at Keck Medicine of USC, mentioned that the CPS1 gene variant has a potent effect on increasing levels of an amino acid known as glycine. Prior research has suggested that glycine can help reduce inflammation in the cells that make up heart arteries and immune cells that enter the artery wall. This is important because inflammation can contribute to the buildup of harmful cholesterol in the arteries, leading to heart disease. Thus, the ability of the CPS1 variant to increase glycine levels could explain its protective effect against heart disease.
But the story isn’t complete yet. “We still don’t know why the protective effect of CPS1 on heart disease is specific to only women,” Dr. Allayee admitted.
It could be due to the influence of glycine or maybe there’s another factor yet to be discovered. Despite these lingering questions, understanding this new mechanism could help create treatments that might be especially beneficial to women.
The researchers arrived at their findings after conducting two genetic studies. The first study was performed on over 6,000 men and nearly 3,000 women from the Cleveland Clinic.
They then confirmed the female-specific link of the CPS1 variant with heart disease in a larger sample of over 26,000 women and men.
This discovery is an important step forward in understanding heart disease and its genetic basis, especially for women.