Ortlepp J R, Hoffmann R, Ohme F, Lauscher J, Bleckmann F, Hanrath P
Medical Clinic I, University Hospital of Aachen, Pauwelsstrasse 30, 52057 Aachen, Germany.
Heart. 2001 Jun;85(6):635-8. doi: 10.1136/heart.85.6.635.
To test the hypothesis that vitamin D receptor polymorphism is associated with calcific aortic valve stenosis.
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.
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).
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.
检验维生素D受体多态性与钙化性主动脉瓣狭窄相关的假设。
在100例连续性钙化性主动脉瓣狭窄患者中检测维生素D受体的一种多态性（BsmI B/b）的分布，并与100例患者的对照组（从总共630例无钙化主动脉瓣的患者中按年龄、性别和是否存在冠状动脉疾病进行配对匹配）进行比较。采用聚合酶链反应和限制性片段长度多态性来确定基因型。
两组之间维生素D受体等位基因和基因型频率存在显著差异。等位基因B在钙化性主动脉瓣狭窄患者中的患病率（B = 0.56，b = 0.44）高于对照组（B = 0.40，b = 0.60）（p = 0.001）。
维生素D受体多态性与钙化性主动脉瓣狭窄存在显著关联。维生素D受体的B等位基因在钙化性主动脉瓣狭窄患者中更常见。现在需要评估其他控制钙稳态的基因是否参与该疾病的发病机制。
