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The Fok1 vitamin D receptor gene polymorphism is associated with plasma renin activity in Caucasians

Anand Vaidya1, Bei Sun, John P Forman

  • 1Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA. avaidya1@partners.org

Clinical Endocrinology
|April 28, 2011
PubMed
Abstract

Insights

Genetic variation in the vitamin D receptor (VDR) gene and vitamin D levels are linked to lower renin activity in hypertensive individuals. This suggests the vitamin D-VDR complex may regulate renin in humans.

Area of Science:

  • Endocrinology
  • Genetics
  • Cardiovascular Disease

Background:

  • Vitamin D deficiency and overactive renin-angiotensin system (RAS) are linked to cardiovascular disease.
  • Vitamin D, via the vitamin D receptor (VDR), can suppress renin production in mice, but human data is limited.

Purpose of the Study:

  • To investigate the association between VDR gene variation (Fok1 polymorphism) and plasma renin activity (PRA) in hypertensive and normotensive individuals.
  • To determine if this association is independent of 25-hydroxyvitamin D (25(OH)D) levels.

Main Methods:

  • A genetic association study was conducted on 375 hypertensive and 146 normotensive participants from the HyperPATH cohort.
  • Plasma renin activity (PRA) was assessed under high and low sodium diets.
  • An additive model of inheritance was assumed for the Fok1 polymorphism analysis.

Main Results:

  • The minor allele (T) at the VDR Fok1 polymorphism was significantly associated with lower PRA in hypertensive individuals under both high and low sodium conditions.
  • A similar trend was observed in normotensive individuals.
  • In hypertensive individuals, higher 25(OH)D levels and the Fok1 T allele were independently linked to lower PRA, but 25(OH)D was not associated with PRA in normotensives.

Conclusions:

  • Genetic variation in the VDR Fok1 polymorphism, along with 25(OH)D levels, is associated with PRA in hypertension.
  • These findings suggest the vitamin D-VDR complex plays a role in regulating renin activity in humans.

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