Association of Cdx-2 Polymorphism of Vitamin D Receptor Gene with Higher Turnover in TS Patients

PERALTA, M.; MIRAS, M.; CENTENO, V.; SILVANO, L.; PÈREZ, A.; MUÑOZ, L.; SOBRERO, G.; TOLOSA, N.

Cartagena de Indias

Encuentro; XXII Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP); 2011

Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)

Introduction and Objectives: A previous work from our laboratory showed an association of BsmI and FokI polymorphisms of vitamin D receptor (VDR) gene with bone mineral density (BMD) in Turner syndrome (TS) patients. The aim of the present study was to analyze the relationship between Cdx-2 polymorphism of VDR gene with BMD, bone formation and resorption markers and other biochemicalbone parameters in TS patients. Methods: DNA was extracted from blood samples of 60 TS patients (15 ± years old) and 59 healthy controls (17 ± 8 years old) and amplified by real time PCR. Alleles were identified by Taqman probes. Lumbar and femoral BMD was determined. Calcium, phosphorus, PTH, osteocalcin and ß-crosslaps were measured in serum. Results: Genotype distribution was similar in both groups. No association between Cdx-2 genotypes and BMD was observed. GG genotype was associated with higher levels of both osteocalcin (92.75 ± 6.99 ng/mL vs GA: 63.04 ± 8.24 ng/mL; p < 0.01) and β-crosslaps (1.47 ± 0.12 ng/mL vs GA: 1.07 ± 0.11 ng/mL; p < 0.05). Conclusion: This significant increase in both markers suggests a higher bone turnover that should be considered in order to prevent bone demineralization in TS patients carrying GG Cdx-2 VDR genotype