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. 2001 Jun;85(6):635–638. doi: 10.1136/heart.85.6.635

The vitamin D receptor genotype predisposes to the development of calcific aortic valve stenosis

J Ortlepp 1, R Hoffmann 1, F Ohme 1, J Lauscher 1, F Bleckmann 1, P Hanrath 1
PMCID: PMC1729782  PMID: 11359741

Abstract

OBJECTIVE—To test the hypothesis that vitamin D receptor polymorphism is associated with calcific aortic valve stenosis.
DESIGN—The distribution of one polymorphism of the vitamin D receptor (BsmI B/b) was examined in 100 consecutive patients with calcific valvar aortic stenosis and compared with a control group of 100 patients (paired match for age, sex, and the presence of coronary artery disease from a total of 630 patients without calcified aortic valves). Polymerase chain reaction and restriction fragment length polymorphism were used to determine genotypes.
RESULTS—There was a significant difference in vitamin D receptor allele and genotype frequencies between the two groups. The allele B had a higher prevalence in patients with calcific aortic stenosis (B = 0.56, b = 0.44) than in the control cohort (B = 0.40, b = 0.60) (p = 0.001).
CONCLUSIONS—There is a significant association of vitamin D receptor polymorphism with calcific aortic valve stenosis. The B allele of the vitamin D receptor is more common in patients with calcific aortic valve stenosis. It now needs to be evaluated whether other genes that control calcium homeostasis are involved in the pathogenesis of this disorder.


Keywords: vitamin D receptor; calcific aortic stenosis; aortic valve; genetic polymorphism

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Selected References

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