Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome

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

Walter de Gruyter

Lugar: Berlin; Año: 2011 vol. 24 p. 307 - 307

ackground: Turner syndrome (TS) patients present low bone mineral density (BMD) and increased fracture risk, probably due to a genetic defect aggravated by hormonal defi ciency. Aim: To study the relationship between vitamin D receptor (VDR) gene polymorphisms and BMD and bone parameters in TS patients. Methods: DNA from 65 TS patients and 110 controls was amplifi ed by PCR and digested with Fok I, Bsm I and Apa I restrictases. Lumbar and femoral BMD were determined by DEXA and serum intact parathyroid hormone, osteocalcin and β -CrossLaps by electrochemiluminescence. Results: Genotype distribution within the ApaI site was dif- ferent in both groups: genotype Aa was more abundant in TS (63.8 % vs. 41.3 % ; p