Association of vitamin D receptor gene Cdx2 polymorphism with bone markers in Turner syndrome patients.

BACKGROUND: Turner syndrome (TS) patients usually have low bone mineral density (BMD) and increased risk of osteoporotic fractures. We have previously demonstrated an association of bb (BsmI polymorphic site) and ff (FokI polymorphic site) vitamin D receptor (VDR) genotypes with reduced BMD in TS patients.

AIM: To analyze the relationship between VDR-Cdx2 polymorphism and BMD as well as bone metabolic variables in TS patients.

METHODS: Fifty-five TS patients and 59 control women were studied. VDR-Cdx2 genotypes were determined using TaqMan probes in a real time thermocycler. Lumbar and femoral BMD were determined by dual-energy X-ray absorptiometry (DEXA) and serum intact parathyroid hormone, osteocalcin and beta3-CrossLaps were determined by electrochemiluminescence.

RESULTS: Patients with genotype GG had higher levels of both osteocalcin and beta-CrossLaps as compared to patients with genotype GA (p < 0.01 and p < 0.05, respectively).

CONCLUSION: Patients carrying genotype GG have higher levels of bone formation and resorption markers. This indicates a more active bone turnover that could impact on their future bone mineral density.