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      Vitamin D Receptor Gene Polymorphism and Bone Mineral Density in Hypercalciuric Calcium-Stone-Forming Patients

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          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 (L<sub>2</sub>–L<sub>4</sub>) 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% BB, 44% Bb and 40% bb. Mean BMD values did not significantly differ among BB, Bb and bb patients at L<sub>2</sub>–L<sub>4</sub> (1.162 ± 0.10, 1.133 ± 0.11 and 1.194 ± 0.19 g/cm<sup>2</sup>, mean ± SD, respectively) or at neck sites (0.920 ± 0.11, 0.931 ± 0.15 and 0.982 ± 0.15 g/cm<sup>2</sup>, 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%, respectively) was similar to that in the normal-bone-mass group (18, 41 and 14%, respectively). These data suggest that BsmI VDR polymorphism does not play an important role in the bone loss seen in hypercalciuric CSF patients.

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          Most cited references 5

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          Fracture risk among patients with urolithiasis: a population-based cohort study.

          In a population-based retrospective cohort study, 624 Rochester, Minnesota residents with an initial symptomatic episode of urolithiasis in 1950 to 1974 were followed for 11,909 person-years for subsequent age-related fractures. During this period of observation, the number of patients with a first vertebral fracture was over four times the number expected on the basis of vertebral fracture incidence rates in the general population of Rochester [standardized morbidity ratio (SMR), 4.3; 95% confidence interval, 3.4 to 5.3]. The risk of vertebral fracture was elevated among men as well as women, and was associated with increasing age and with the use of corticosteroids for more than six months. However, vertebral fracture risk was increased nearly fourfold (SMR 3.9; 95% confidence interval, 3.0 to 4.9) among the urolithiasis patients without such exposure, which suggests that corticosteroids do not completely account for the association with vertebral fractures. There was no increase in the risk of hip, pelvis, proximal humerus or distal forearm fractures in this cohort of patients, and their survival was not impaired. Additional studies are needed to define the pathophysiology of vertebral fractures among patients with urolithiasis.
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            The genetics of osteoporosis: vitamin D receptor polymorphisms.

            Osteoporosis is a metabolic bone disease characterized by low bone mass and deterioration of bone tissue that leads to bone fragility and an increase in fracture risk. It is a disease with a complex etiology that includes genetic and environmental contributors. Environmental factors that influence bone density include dietary factors-such as intakes of calcium, alcohol, and caffeine-and lifestyle factors-such as exercise and smoking. Ethnic differences in the propensity to nontraumatic bone fracture suggest that genetic factors are important. Recently, common allelic variations in he vitamin D receptor gene have been found to be associated with bone mineral density in racially diverse population groups, as well as in prepubertal girls, young adult and postmenopausal women, and men. However, many studies have not been able to find this association. Additional approaches, such as sib-pair analysis, will probably be necessary in the future to identify the important determinants of osteoporosis.
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              Bone mineral content in patients with calcium urolithiasis.


                Author and article information

                S. Karger AG
                13 December 2001
                : 90
                : 1
                : 51-57
                Nephrology Division, Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo, Brazil
                46314 Nephron 2002;90:51–57
                © 2002 S. Karger AG, Basel

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                Page count
                Figures: 2, Tables: 3, References: 61, Pages: 7
                Self URI (application/pdf): https://www.karger.com/Article/Pdf/46314
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