Vitamin D receptor (VDR) polymorphisms in the cardiac variant of Gaucher disease.

Type 3c Gaucher disease, an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves, is generally fatal in teenage-hood. Vitamin D Receptors (VDR) are involved in calcium transport. The purpose of this pilot was to ascertain if VDR polymorphisms (BsmI, TaqI, ApaI, and FokI) are associated with type 3c Gaucher disease. There was a higher incidence of wild type alleles of all polymorphisms. Although a very small series, results seem to confirm preponderance of the BsmI B allele in type 3c as in other aortic calcifications, but also implicate linkage between ApaI and BsmI genotypes.