Study links heart failure to gene variant affecting vitamin D activation

Washington, Dec 2 (ANI): Patients with high blood pressure who carry a gene variant that affects an enzyme critical to normal vitamin D activation are twice as likely as those without the variant to suffer congestive heart failure, a new study has found.

Vitamin D deficiency has been linked to increased risk of heart disease and many other diseases like cancer and diabetes, autoimmune disease, in previous studies.

"This study is the first indication of a genetic link between vitamin D action and heart disease," says Robert U. Simpson, professor of pharmacology at the University of Michigan Medical School and one of the authors of the study.

"This study revealed that a critical enzyme absolutely required for production of the vitamin D hormone has a genetic variant associated with the development of congestive heart failure.

"If subsequent studies confirm this finding and demonstrate a mechanism, this means that in the future, we may be able to screen earlier for those most vulnerable and slow the progress of the disease," he added.

Simpson and colleagues analyzed the genetic profiles of 617 subjects from the Marshfield Clinic Personalized Medicine Project, a large DNA biobank.

They looked for variants in five candidate genes chosen for their roles in vitamin D regulation and hypertension. One-third of the subjects had both hypertension and congestive heart failure, one-third had hypertension alone and one-third were included as healthy controls.

The results showed that a variant in the CYP27B1 gene was associated with congestive heart failure in patients with hypertension.

It is already known that mutations that inactivate this gene reduce the required conversion of vitamin D into an active hormone.

"This initial study needs to be confirmed with a larger study that would permit analysis of the full cardiovascular profile of the population possessing the gene variant," Simpson said.

The study has been published in the journal Pharmacogenomics. (ANI)