Abstract
AIMS: We tested the hypothesis that genetic variation in vitamin D-dependent signaling is associated with congestive heart failure in human subjects with hypertension. MATERIALS & METHODS: Functional polymorphisms were selected from five candidate genes: CYP27B1, CYP24A1, VDR, REN and ACE. Using the Marshfield Clinic Personalized Medicine Research Project, we genotyped 205 subjects with hypertension and congestive heart failure, 206 subjects with hypertension alone and 206 controls (frequency matched by age and gender). RESULTS: In the context of hypertension, a SNP in CYP27B1 was associated with congestive heart failure (odds ratio: 2.14 for subjects homozygous for the C allele; 95% CI: 1.05-4.39). CONCLUSION: Genetic variation in vitamin D biosynthesis is associated with increased risk of heart failure.