Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease

SummaryBone involvement in Gaucher disease causes disability and reduced quality of life; loss of function and pain are important indications for enzyme replacement therapy. The purpose of this study was to ascertain whether osteoprotegerin (OPG), which decreases osteoclast activity, is indicative of incipient bone involvement by comparing OPG serum levels to Gaucher disease severity (SSI) and bone mineral density (BMD), and to correlate bone and disease markers to OPG polymorphisms: OPG1‐2(A163G), OPG3‐4(T129C) and OPG5‐6(C1217T). Of 554 patients, 173 Ashkenazi Jewish patients with non‐neuronopathic Gaucher disease were enrolled and 32 healthy Ashkenazi Jews served as controls. Serum OPG levels were detected by enzyme‐linked immunosorbent assay and BMD was obtained by dual X‐ray absorptiometry. OPG polymorphisms were determined in 63 randomly chosen patients. Serum OPG values for patients were not greater than in controls, but showed a statistically significant trend to increase with age (P = 0·057). No correlation existed between OPG levels and BMD or with genotype or other disease markers. A significant correlation was noted between OPG5‐6 genotype and SSI. A significant difference was found between the allele distributions of each OPG polymorphism when compared with Caucasians and Ashkenazi Jews. OPG levels probably do not predict BMD in Gaucher disease and hence are not indicative of osteoporosis in Gaucher disease.