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Vitamin D receptor gene polymorphism and bone mineral density in hypercalciuric calcium-stone-forming patients

Ita Pfeferman Heilberg Sergio Henrique Teixeira; Lígia Araújo Martini; Mirian Aparecida Boim

Nephron Basel v. 90, n. 1, p. 51-57, 2002

Basel 2002

Localização: FSP - Faculdade de Saúde Pública    (HNT-09/2002 )(Acessar)

  • Título:
    Vitamin D receptor gene polymorphism and bone mineral density in hypercalciuric calcium-stone-forming patients
  • Autor: Ita Pfeferman Heilberg
  • Sergio Henrique Teixeira; Lígia Araújo Martini; Mirian Aparecida Boim
  • Assuntos: CÁLCIO (URINA); CÁLCULOS URINÁRIOS; OSTEOPATIAS METABÓLICAS; DENSITOMETRIA ÓSSEA; VITAMINA D; POLIMORFISMO (GENÉTICA)
  • É parte de: Nephron Basel v. 90, n. 1, p. 51-57, 2002
  • Descrição: Reduced bone mineral density (BMD) and an increased risk of vertebral fracture have been reported in calcium-stone-forming (CSF) patients presenting with idiopathic hypercalciuria. We investigated the association between BsmI vitamin D receptor (VDR) polymorphism and BMD in 68 hypercalciuric CSF patients (35 males and 33 premenopausal females, mean age ± SD = 39 ± 10 years). BMD was measured at lumbar spine (L2-L4) and femur neck sites using dual energy X-ray absorptiometry. A 72-hour dietary record and a 24-hour urine sample were obtained from each patient to determine calcium intake and excretion. The allelic frequency found for the sample as a whole was 16 percent BB, 44 percent Bb and 40 percent bb. Mean BMD values did not significantly differ among BB, Bb and bb patients at L2-L4 (1.162 ± 0.10, 1.133 ± 0.11 and 1.194 ± 0.19 g/cm2, mean ± SD, respectively) or at neck sites (0.920 ± 0.11, 0.931 ± 0.15 and 0.982 ± 0.15 g/cm2, respectively). Calcium intake and excretion were also not significantly different among the three genotypes. Patients were then divided into two groups, normal BMD, T-score -1 (n = 34) and low BMD, T-score <-1 (n = 34), to further evaluate the allele influence on previous bone loss. Despite a trend for a higher mean BMD at spine or neck sites for patients with one or two b alleles when compared to BB patients, the difference did not reach statistical significance. The distribution of BB, Bb and bb genotypes in the low-bone-mass group (15,
    47 and 38 percent, respectively) was similar to that in the normal-bone-mass group (18, 41 and 14 percent, respectively). These data suggest that BsmI VDR polymorphism does not play an important role in the bone loss seen in hypercalciuric CSF patients
  • Editor: Basel
  • Data de criação/publicação: 2002
  • Formato: p. 51-57.
  • Idioma: Inglês

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