According to a study, patients with high blood pressure who possess a gene variant that affects an enzyme critical to normal vitamin D activation are twice as likely as those without the variant to have congestive heart failure.
Previous studies have shown a link between low vitamin D status and heart disease, but this study is the first indication of a genetic link between vitamin D action and heart disease.
“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,” says study author Robert U. Simpson. “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.”
The researchers 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 high blood pressure. One-third of the subjects had both high blood pressure and congestive heart failure, one-third had high blood pressure 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 high blood pressure. It is already known that mutations that inactivate this gene reduce the required conversion of vitamin D into an active hormone.
References:
1. Robert U. Simpson, et al. Genetic variation in CYP27B1 is associated with congestive heart failure in patients with hypertension. Pharmacogenomics. 2009 Nov;10(11):1789-97. PMID: 19891555.
2. Image by Patrick J. Lynch, medical illustrator; C. Carl Jaffe, MD, cardiologist.
