Association of vitamin D receptor gene Cdx 2 polymorphism with bone markers in Turner syndrome patients

MARÍA PERALTA LÓPEZ, VIVIANA CENTENO, MIRTA MIRAS, LILIANA SILVANO, ADRIANA PÉREZ, LILIANA MUÑOZ, GABRIELA SOBRERO, MARÍ A ULLA AND NORI TOLOSA DE TALAMONI

JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM

De Gruyter

Año: 2012 vol. 25 p. 669 - 669

2191-0251

bstract 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 (Fok I polymorphic site) vitamin D receptor (VDR) genotypes with reduced BMD in TS patients. Aim: To analyze the relationship between VDR- Cdx 2 poly- morphism and BMD as well as bone metabolic variables in TS patients. Methods: Fifty-five TS patients and 59 control women were studied. VDR- Cdx 2 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 β -CrossLaps were determined by electrochemiluminescence. Results: Patients with genotype GG had higher levels of both osteocalcin and β -CrossLaps as compared to patients with genotype GA (p