New genes identified for fibromuscular dysplasia

Oct. 18, 2021

Three new genetic variants that regulate gene expression in the arteries are associated with fibromuscular dysplasia (FMD), an arterial disease that can cause dangerous consequences for the heart and vessels, according to a new study as reported in a news release from Michigan Medicine.

The findings, published in Nature Communications by an international team of FMD experts from the United States and Europe, also confirmed the importance of a fourth genetic target that has already been identified as involved with the disease.

“We once thought FMD was a rare disease, but the current estimate is that it may affect more than 3% of the population,” said Santhi Ganesh, MD, Associate Professor of Internal medicine and Human genetics, and a cardiologist at the University of Michigan Health Frankel Cardiovascular Center.

Researchers note the genes identified suggest that the genetic basis of FMD may contribute through altered vascular smooth muscle cell structure and function.

Notably, the genetic findings pointed to a correlation with several more common cardiovascular diseases that are often reported in tandem with FMD, including high blood pressure, migraine headache, intracranial aneurysm, and subarachnoid hemorrhage. There was a negative correlation to atherosclerotic coronary artery disease, while no shared genetics were confirmed with ischemic stroke, which also commonly affects people with FMD.

The researchers combed through data from genome-wide association studies of more than 1,500 FMD cases, comparing them to more than 7,000 control samples from participants without FMD. The three new genes implicated for FMD are ATP2B1, LRP1 and LIMA1, while the fourth that was confirmed is known as PHACTR1.

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