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Heart failure linked to gene variant affecting vitamin D activation

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By David Liu

A new study in the journal Pharmacogenomics found that patients with high blood pressure who carry a gene variant that affects an enzyme that acts to activate vitamin D were twice as likely as those without the variant to suffer congestive heart failure.

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," said Robert U. Simpson, co-author of the study and 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," Simpson said.

"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."

Simpson and colleagues analyzed the genetic profiles of 617 patients from the Marshfield Clinic Personalized Medicine Project. They were looking for five gene variants that play a role in vitamin D regulation and hypertension.

One third of the patients had both hypertension or high blood pressure and congestive heart failure, one third had high blood pressure alone and the remaining one third were included as healthy controls.

A variant in the CYP27B1 gene was found associated with congestive hear failure in patients with high blood pressure. Mutations in the gene are known to inactivate an enzyme that helps convert 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.

Heart failure, a serious heat problem, refers to a condition in which the heart can’t pump blood the way it should. It doesn’t mean that the heart has stopped or is about to stop working,

In the United States, an estimated 5.7 people are living with heart failure and 670,000 new cases are diagnosed each year, according to American Heart Association.

High blood pressure is a serious condition that can cause coronary heart disease, heart failure, stroke, kidney failure, and other health problems. An estimated 33 percent of American adults live with high blood pressure.

Vitamin D has been known to be involved in many physiologic functions and vitamin D deficiency can cause a whole spectrum of diseases, including heart disease, diabetes and cancer.

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