Genetic Variation in CYP27B1 is Associated with Congestive Heart Failure in Patients with Hypertension

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.

KEYWORDS::

• congestive heart failure
• genetics
• hypertension
• vitamin D

Acknowledgements

The authors are grateful to all subjects participating in the Marshfield Clinic Personalized Medicine Research Project (PMRP). We would like to thank Deb Johnson, Debbie Hilgemann, Theresa Esser, Juanita Herr and Terrie Kitchner for their coordination and manual abstraction of clinical data. We would also like to thank Jamie Buettner, Jennifer Kislow and Lynn Ivacic for their dedication to conducting high quality laboratory work.

Financial & competing interests disclosure

The project was funded in part by donors to cardiology research at Marshfield Clinic. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

Additional information

Funding

The project was funded in part by donors to cardiology research at Marshfield Clinic. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties. No writing assistance was utilized in the production of this manuscript.