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1.
Y. V. Ho E. M. Briganti Y. Duan R. Buchanan S. Hall E. Seeman 《Osteoporosis international》1999,9(2):134-138
Corticosteroid therapy (CST) is associated with reduced intestinal calcium absorption, bone loss and increased fracture risk.
As polymorphisms of the vitamin D receptor (VDR) gene may be associated with bone mineral density (BMD) and intestinal calcium
absorption, we asked whether patients with a given VDR genotype receiving CST may be at increased or decreased risk for corticosteroid-related
bone loss and osteoporosis. We measured areal BMD (g/cm2) by dual-energy X-ray absorptiometry in 193 women (50 premenopausal, 143 postmenopausal) and 70 men with rheumatoid arthritis
(n= 44), obstructive airway diseases (n= 128) and other corticosteroid-treated diseases (n= 91). All patients received a cumulative dose greater than 1.8 g per year or a minimum of 5 mg daily of prednisolone or equivalent
for at least 1 year. VDR alleles were typed by polymerase chain reaction assay based on the polymorphic BsmI and TaqI restriction sites. BMD in patients was expressed as a Z-score (mean ± SEM) derived from age- and gender-matched controls. BMD was reduced in patients at the lumbar spine (bb, −0.52
± 0.12; Bb, −0.47 ± 0.11; BB, −0.65 ± 0.18 SD; p<0.01), femoral neck (bb, −0.46 ± 0.10; Bb, −0.34 ± 0.10; BB, −0.54 ± 0.14 SD; p<0.01), Ward’s triangle (bb, −0.44 ± 0.10; Bb, −0.31 ± 0.10; BB, −0.45 ± 0.13 SD; p<0.01), and trochanter (bb, −0.50 ± 0.10; Bb, −0.30 ± 0.10; BB, −0.44 ± 0.14 SD; p<0.01). However, there was no significant difference in the deficit in BMD in any of the genotypes, either before or after
adjusting for age, sex, body mass index, disease type, age at onset of disease, disease duration, cumulative steroid dosage,
smoking status and dietary calcium intake. Similarly, there were no detectable differences between the BsmI genotypes and the rate of bone loss in 79 patients with repeated BMD measurements at an interval of 4–48 months. The data
suggest that the VDR genotypes may not be a means of identifying patients at greater risk of corticosteroid-related bone loss.
Received: 23 December 1997 / Accepted: 26 May 1998 相似文献
2.
Vitamin D Receptor Genotypes and Intestinal Calcium Absorption in Postmenopausal Women 总被引:8,自引:0,他引:8
L. Gennari L. Becherini L. Masi S. Gonnelli C. Cepollaro S. Martini R. Mansani M. L. Brandi 《Calcified tissue international》1997,61(6):460-463
Several studies have shown that bone mass and bone turnover are genetically determined. This genetic component is thought
to be mediated in part by polymorphisms at the vitamin D receptor (VDR) locus, even though the underlying molecular mechanisms
are still unknown. To evaluate a possible site of differential action of the VDR gene alleles we examined their correlation
with intestinal calcium absorption in 120 Caucasian postmenopausal women (aged 61 ± 0.6 years). VDR gene polymorphisms for
Apa I, Bsm I, and Taq I restriction endonucleases were assessed by Southern blotting analysis. The most common genotypes observed
in our population were AaBbTt (37%), AABBtt (20%), aabbTT (15%), AabbTT (15%), and AABbTt (9%). Although there was some evidence
of 13% higher lumbar BMD values in aabbTT genotype with respect to AABBtt genotype, this difference of approximately 0.1 g/cm2 did not reach statistical significance, possibly because of the limited number of observations. On the contrary, no relationship
was found between genotypes and femoral neck BMD values. Intestinal calcium absorption was significantly lower in BB and tt
genotypes than, in bb and TT genotypes, respectively, and in AABBtt genotype than in either aabbTT or AaBbTt genotypes (P= 0.0015 ANOVA). No significant differences in intact PTH, alkaline phosphatase, 25OHD3, and 1,25(OH)2D3 were found among subjects with different VDR genotypes. These results are consistent with a possible role of VDR alleles
on intestinal calcium absorption. 相似文献
3.
Correlation Between Vitamin D Receptor Genotypes and Bone Mineral Density in Japanese Patients with Osteoporosis 总被引:2,自引:0,他引:2
M. Tamai M. Yokouchi S. Komiya K. Mochizuki S. Hidaka S. Narita A. Inoue K. Itoh 《Calcified tissue international》1997,60(3):229-232
In order to better understand the pathogenesis of osteoporosis, we investigated the correlation between the vitamin D receptor
(VDR) genotypes defined by BsmI restriction enzyme, as well as other related factors, and the bone mineral density (BMD) at
the lumbar spine in 90 Japanese patients with osteoporosis. The same study was performed in 36 patients with osteoarthrosis
of the hip joint and 92 healthy volunteers. The majority of the VDR genotypes were bb, and a few of the population showed
either the BB or Bb genotype in all three groups. There was no statistical difference in the frequencies of these VDR genotypes
in the three groups. The mean age-matched value of BMD (Z scores) at the lumbar spine in patients with osteoporosis was significantly
lower than that in patients with osteoarthrosis or healthy volunteers. The mean Z scores of the healthy volunteers with bb
genotype were significantly higher than those with BB genotype, whereas those of the osteoporosis patients with BB genotype
were significantly higher than those with Bb genotype. There was no significant difference in the mean Z scores between bb
and Bb genotypes in patients with osteoporosis and healthy volunteers. No significant difference was seen in the mean Z scores
in patients with osteoarthrosis regardless of genotype. On the other hand, body weight significantly correlated with BMD in
patients with osteoporosis by simple- and multiple-regression analysis. These results indicate that the BMD at the lumbar
spine in Japanese patients with osteoporosis is affected by body weight, and might be affected partially by the VDR genotypes
defined by BsmI.
Received: 22 September 1995 / Accepted: 24 September 1996 相似文献
4.
Pérez A Ulla M García B Lavezzo M Elías E Binci M Rivoira M Centeno V Alisio A Tolosa de Talamoni N 《Journal of bone and mineral metabolism》2008,26(4):358-365
The aim of this study was to determine genotypes and clinical aspects associated with bone mineral density (BMD) in postmenopausal women from Córdoba, Argentina. Polymorphisms were assessed by RFLP-PCR technique using BsmI and FokI for vitamin D receptor gene (VDR) and XbaI and PvuII for estrogen receptor-alpha gene (ERalpha) as restrictases. Sixty-eight healthy, 54 osteopenic, and 64 osteoporotic postmenopausal women were recruited. Femoral neck and lumbar spine BMD were inversely correlated with age in the entire analyzed population. Height was lower in osteopenic and osteoporotic women as compared to healthy women (P < 0.05). Weight and body mass index (BMI) were the lowest in osteoporotic women (P < 0.01 versus healthy group). Serum procollagen type I Nterminal propeptide (PINP) was higher in osteoporotic women as compared to the other groups. Distribution of VDR and ERalpha genotypes was similar in the three groups. Genotype bb (VDR) was associated with low values of lumbar BMD in the healthy group (P < 0.05 versus genotype Bb), and with low values of femoral BMD (P < 0.05 versus genotype BB) in osteoporotic women. BB*Pp interaction was associated with the highest femoral neck BMD (P < 0.05), whereas the bb*xx interaction was associated with the lowest femoral neck BMD in the total population analyzed (P < 0.05). In conclusion, parameters such as age, height, weight, BMI, serum PINP, VDR genotypes, and interactions between VDR and ERalpha genotypes could be useful to predict a decrease in BMD in Argentine postmenopausal women. 相似文献
5.
Vitamin D Receptor Gene Polymorphisms, Bone Mass, Bone Loss and Prevalence of Vertebral Fracture: Differences in Postmenopausal Women and Men 总被引:7,自引:0,他引:7
C. Gómez M. L. Naves Y. Barrios J. B. Díaz J. L. Fernández E. Salido A. Torres J. B. Cannata 《Osteoporosis international》1999,10(3):175-182
Bone mineral density (BMD), the major determinant of fracture risk, is under strong genetic control. Although polymorphisms
of the vitamin D receptor (VDR) gene have been suggested to account for some of the genetic variation in bone mass, the influence
of VDR genotypes on osteoporosis remains controversial. Previous published studies have focused mainly on women, but the pattern
of response in men has not been determined. Using the BsmI restriction enzyme, we studied the influence of the different VDR genotypes on bone mass, bone loss and the prevalence of
vertebral fractures in a population-based sample of both sexes (n = 326). BMD was measured at the lumbar spine and femoral neck, with a 4-year interval, using dual-energy X-ray absorptiometry.
Vertebral fractures were assessed by two lateral radiographs at the beginning and end of the study. The prevalence of the
three possible VDR genotypes was similar to those in other Caucasian populations and no differences were found between men
and women. Women with the favorable bb genotype showed significantly higher BMD values at the lumbar spine and femoral neck,
and a positive rate of BMD change at the femoral neck compared with women with the BB and Bb genotypes. Moreover, women with
the bb genotype showed a trend toward a lower prevalence and incidence of vertebral fractures (p= 0.07). We have not found any differences between VDR genotypes in men. In conclusion, VDR gene polymorphisms are related
to bone mass and bone loss in women; also a trend in the prevalence of vertebral fractures was observed in postmenopausal
women but not in men.
Received: 8 June 1998 / Accepted: 7 December 1998 相似文献
6.
Twenty-four late postmenopausal women with osteoporosis were studied. The patients were separated in three subgroups according
to the BsmI polymorphism of the vitamin D receptor (VDR) gene: BB (n= 8), Bb (n = 10) and bb (n = 6). They did not differ in age (mean ages were 66.0 years, 65.9 years and 63.9 years, respectively), years after menopause
(18.7 years, 18.1 years and 18.4 years) or body weight (64.9 kg, 65.3 kg and 63.8 kg), the variables known to be associated
with bone mineral density (BMD). The results show that the response to antiresorptive bisphosphonate therapy in combination
with calcium supplementation is modified by VDR genotype. The lumbar spine BMD increased significantly faster in the BB and
Bb groups (7.3% and 7.0%, respectively) compared with the bb group (2.5%) during 1 year of cyclic etidronate therapy (400
mg/day) and calcium supplementation (1000 mg/day). The biochemical marker of bone resorption (urinary hydroxyproline excretion)
as well as the bone formation marker (serum levels of osteocalcin) decreased during the treatment. With respect to VDR genotype,
a significantly higher decrease in osteocalcin level was observed in bb as compared with BB subjects. We conclude that the
VDR genotype is involved in an individual’s response to cyclic etidronate therapy with calcium supplementation.
Received: 12 December 1998 / Accepted: 18 March 1999 相似文献
7.
R. Kikuchi T. Uemura I. Gorai S. Ohno H. Minaguchi 《Calcified tissue international》1999,64(2):102-106
To determine whether vitamin D receptor (VDR) gene polymorphisms are associated with bone mineral density (BMD) and bone
loss in the Japanese population, VDR BsmI RFLPs were analyzed in 191 postmenopausal Japanese women by comparing B allele and b allele DNA sequences, and a point mutation
was confirmed. We examined VDR BsmI restriction fragment length polymorphism (RFLP) with an amplification refractory mutation system (ARMS) using this point
of mutation. The frequency of VDR BsmI alleles in the Japanese population was significantly different from that in whites. The bb genotype was identified in 79.6%,
of the subjects, the Bb genotype in 19.3%, and the BB genotype was in only 1.1%. We find no significant differences in lumbar
spine baseline BMD between the bb genotype and the Bb genotype. In both early and late postmenopausal periods, serial measurements
of vertebral BMD revealed that subjects with the Bb genotype lost BMD faster than those with the bb genotype (P= 0.001). We conclude that there is a significant relationship between RFLPs of BsmI VDR and the annual rates of bone loss during early and late postmenopausal periods in the Japanese population.
Received: 14 May 1997 / Accepted: 9 July 1998 相似文献
8.
Intravenous Pamidronate as Treatment for Osteoporosis after Heart Transplantation: A Prospective Study 总被引:4,自引:0,他引:4
M. A. Krieg C. Seydoux L. Sandini J. J. Goy D. Gillard Berguer D. Thie´baud P. Burckhardt 《Osteoporosis international》2001,12(2):112-116
Fractures due to osteoporosis are one of the major complications after heart transplantation, occurring mostly during the
first 6 months after the graft, with an incidence ranging from 18% to 50% for vertebral fractures. Bone mineral density (BMD)
decreases dramatically following the graft, at trabecular sites as well as cortical sites. This is explained by the relatively
high doses of glucocorticoids used during the months following the graft, and by a long-term increase of bone turnover which
is probably due to cyclosporine. There is some evidence for a beneficial effect on BMD of antiresorptive treatments after
heart transplantation. The aim of this study was to assess prospectively the effect on BMD of a 3-year treatment of quarterly
infusions of 60 mg of pamidronate, combined with 1 g calcium and 1000 U vitamin D per day, in osteoporotic heart transplant
recipients, and that of a treatment with calcium and vitamin D in heart transplant recipients with no osteoporosis. BMD of
the lumbar spine and the femoral neck was measured by dual-energy X-ray absorptiometry in all patients every 6 months for
2 years and after 3 years. Seventeen patients, (1 woman, 16 men) aged 46 ± 4 years (mean ± SEM) received only calcium and
vitamin D. A significant decrease in BMD was observed after 6 months following the graft, at the lumbar spine (−6.6%) as well
as at the femoral neck (−7.8%). After 2 years, BMD tended to recover at the lumbar spine, whereas the loss persisted after
3 years at the femoral neck. Eleven patients (1 woman and 10 men) aged 46 ± 4 years (mean ± SEM) started treatment with pamidronate
on average 6 months after the graft, because they had osteoporosis of the lumbar spine and/or femoral neck (BMD T-score below −2.5 SD). Over the whole treatment period, a continuous increase in BMD at the lumbar spine was noticed, reaching
18.3% after 3 years (14.3% compared with the BMD at the time of the graft). BMD at the femoral neck was lowered in the first
year by −3.4%, but recovered totally after 3 years of treatment. In conclusion, a 3-year study of treatment with pamidronate
given every 3 months to patients with existing osteoporosis led to a significant increase in lumbar spine BMD and prevented
loss at the femoral neck. However, since some of these patients were treated up to 14 months after the transplant, they may
already have passed through the phase of most rapid bone loss. In patients who were not osteoporotic at baseline, treatment
with calcium and vitamin D alone was not able to prevent the rapid bone loss that occurs immediately after transplantation.
Received: 31 June 2000 / Accepted: 23 August 2000 相似文献
9.
O. M. Hauache M. Lazaretti-Castro S. Andreoni S. G. A. Gimeno C. Brandão A. C. Ramalho T. S. Kasamatsu I. Kunii L. F. Hayashi S. A. Dib J. G. H. Vieira 《Osteoporosis international》1998,8(3):204-210
Patients with insulin-dependent diabetes mellitus (IDDM) are at higher risk of developing osteoporosis. Among the genetic
factors related to the development of osteoporosis, a possible association between vitamin D receptor (VDR) gene polymorphism
and bone mineral density (BMD) has been described in some populations. We characterized the VDR gene polymorphism in a healthy
adult Brazilian population and in a group of patients with IDDM and correlated these findings with densitometric values in
both groups. The Brazilian population is characterized by an important racial heterogeneity and therefore is considered an
ethnically heterogeneous population. We recruited 94 healthy adult Brazilian volunteers (63 women and 31 men), mean (+ SD)
age 32.4 + 6.5 years (range 18–49 years), and 78 patients with IDDM (33 women and 45 men) diagnosed before 18 years of age,
mean (+ SD) age 23.3 + 5.5 years (range 18–39 years). VDR genotype was assessed by polymerase chain reaction amplification
followed by BsmI digestion on DNA isolated from peripheral blood leukocytes. Statistical analysis included Bonferroni t-test to compare densitometric values within different genotypes in both groups and multiple regression analysis of bone density
adjusted for potential confounding factors. The IDDM group had a lower BMD compared with the control group. The VDR genotype
distribution in the control group was 43 Bb (45.7%), 39 bb (41.5%) and 12 BB (12.8%). This distribution did not differ from that observed in the IDDM group: 39 Bb (50%), 26 bb (33.3%) and 13 BB (16.7%). In the IDDM group, patients with the Bb genotype had a higher body weight when compared with the BB genotype (p= 0.02). However, when diabetic patients were controlled for age, sex and body mass index, BB genotype was associated with a lower mean BMD at lumbar spine and femoral neck than in Bb and bb patients. BB patients had a shorter duration of IDDM than bb and Bb patients. These findings suggest a small influence of VDR gene polymorphism on BMD of a racially heterogeneous population
with IDDM.
Received: 5 March 1997 / Accepted: 23 September 1997 相似文献
10.
Graziano Onder Ettore Capoluongo Paola Danese Silvana Settanni Andrea Russo Paola Concolino Roberto Bernabei Francesco Landi 《Journal of bone and mineral research》2008,23(7):1031-1036
Vitamin D receptor (VDR) genotypes were associated with cognitive status, depressive symptoms, strength, and sarcopenia, but, thus far, no study has assessed their relationship with falls. The objective of this study is to evaluate whether, in a population of older adults living in the community, VDR FokI and BsmI genotypes are associated with falls. To this aim, we used data from the baseline evaluation of the ilSIRENTE study, which enrolled older adults ≥80 yr of age living in the community in Italy. Falls occurring within 90 days of assessment were assessed by study personnel. The mean age of 259 study participants was 85.0 ± 4.5 (SD) yr; 172 (66.4%) were women. Overall, 33 (12.7%) participants reported one or more falls. The rate of falls was 19.5% in participants with the BB genotype, 11.1% in those with Bb genotype, and 5.9% in those with bb genotype (p for linear trend = 0.02). After adjusting for potential confounders, compared with participants with the BB genotype, those with the bb genotype had a significantly lower OR for falls 0.14 (95% CI, 0.03–0.66). Rate of falls did not differ significantly across FokI genotypes (FF: 14.4%, Ff: 11.9%, ff: 9.1%; p = 0.43). In conclusion, the VDR bb genotype of the BsmI gene is associated with a reduced rate of falls compared with the BB genotype, whereas no effect on falls was shown for FokI polymorphism. Further studies conducted in larger population are needed to confirm the association of BsmI genotype and falls and to understand reasons for these findings. 相似文献
11.
J. M. Zmuda J. A. Cauley M. E. Danielson T. M. Theobald R. E. Ferrell 《Osteoporosis international》1999,9(3):214-219
A polymorphism at the first of two potential translation initiation codons in the vitamin D receptor (VDR) gene defined by
the FokI restriction endonuclease has been associated with reduced bone mineral density (BMD) among Caucasian, Asian, and Mexican-American
women. We tested the hypothesis that the FokI polymorphism is related to markers of osteoporotic risk in 104 community-dwelling African-American women aged 65 years and
older. Six percent of the African-American women had the ff genotype, 32% were heterozygous, and 63% had the FF genotype.
FokI genotype frequencies did not differ from Hardy–Weinberg expectations. Hip and calcaneal BMD, calcaneal ultrasound attenuation
and hip geometry from pelvic radiographs did not differ significantly by FokI genotypes or between women with and without the rare FokI allele. There was also no association between the FokI polymorphism and biochemical markers of bone turnover or fractional calcium absorption. We conclude that the VDR start codon polymorphism does not have a major influence on osteoporotic risk in older African-American women.
Received: 20 November 1997 / Accepted: 29 June 1998 相似文献
12.
H.-Y. ChenChen W.-C. Chen W.-C. Chen F.-J. Tsai C.-H. Tsai C.-W. Li 《Osteoporosis international》2001,12(12):1036-1041
Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the vitamin
D receptor gene intron 8 BsmI polymorphism with bone mineral density (BMD) and their relationship to osteoporosis. We determined the vitamin D receptor
gene intron 8 BsmI polymorphism using polymerase chain reaction-based restriction analysis in 171 postmenopausal Chinese women in Taiwan. The
polymorphism was detected using the restriction enzyme BsmI, where the B allele indicated absence of the cuttable site and the b allele its presence. BMD of the lumbar spine and proximal
femur were measured using dual-energy X-ray absorptiometry. The allelic frequencies for postmenopausal Chinese women in Taiwan
were 12.3% for B and 87.7% for b in BsmI restriction fragment length polymorphisms. The prevalence of each genotype in the study population was: 6.4% BB, 11.7% Bb
and 81.9% bb. The three genotypic groups differed significantly in BMD at the lumbar spine and the femoral neck. These differences
corresponded to significant gene-dose effects at the lumbar spine and femoral neck (p<0.001 for both sites). The relative risk for the development of osteoporosis was about 2–3 times as great as that predicted
by the differences between genotypes in BMD, and remained significant even after adjustment for age, height and weight. The
vitamin D receptor gene intron 8 BsmI polymorphism is associated with reduced BMD and predisposes women to osteoporosis.
Received: 21 February 2001 / Accepted: 31 May 2001 相似文献
13.
Association Study of Parathyroid Hormone Gene Polymorphism and Bone Mineral Density in Japanese Postmenopausal Women 总被引:16,自引:1,他引:15
Hosoi T Miyao M Inoue S Hoshino S Shiraki M Orimo H Ouchi Y 《Calcified tissue international》1999,64(3):205-208
Association of BST B1 restriction fragment length polymorphism (RFLP) of the parathyroid hormone (PTH) gene with bone mineral density (BMD)
was examined in 383 healthy postmenopausal women in Japan who were unrelated. The RFLP was represented as B or b, the capital
letter signifying the presence of and the small letter the absence of restriction site for BST B1. The frequency of each genotype—BB, Bb, and bb—was 82.5%, 16.7%, and 0.8%, respectively. When we statistically compared
age, years after menopause, body height, and body weight between the BB genotype and the Bb genotype groups, there was no
significant difference between the groups. However, the lumbar BMD and the score of BMD adjusted for age and body weight (Z
score) were significantly lower in the group of genotype Bb than in the BB: 0.859 ± 0.019 g/cm2 versus 0.925 ± 0.011 (mean ± SE, P= 0.01) and −0.412 ± 0.138 versus 0.067 ± 0.082 (mean ± SE, P= 0.01). In addition, the Z score of total body BMD in the Bb genotype group was lower than that in the BB group. Comparison
of serum and urinary biochemical bone metabolic markers suggested that the subjects with Bb genotype might be in a relatively
higher state of bone turnover than those with BB genotype. These results suggest that the polymorphism in the PTH gene would
be a useful genetic marker for lower BMD and the susceptibility for osteoporosis.
Received: 19 March 1998 / Accepted: 24 June 1998 相似文献
14.
T. L. N. Järvinen T. A. H. Järvinen H. Sievänen A. Heinonen M. Tanner X.-H. Huang A. Nenonen J. J. Isola M. Järvinen P. Kannus 《Calcified tissue international》1998,62(5):413-417
The objective of this prospective controlled study was to determine whether the osteogenic response of bone to mechanical
loading is dependent on the vitamin D receptor (VDR) polymorphism. Thirty-five healthy premenopausal women took part in a
progressive, high-impact exercise three times a week for a period of 18 months and 45 women served as nonexercising controls.
The trainees were divided into three groups: bb (n = 12, 34%); Bb (n = 16, 46%); BB (n = 7, 20%) according to polymorphism
at the gene encoding the VDR (BB representing subjects without the restriction enzyme BsmI sites on the two VDR gene alleles). Bone mineral content (BMC) and areal bone mineral density (BMD) were measured at the
lumber spine, proximal femur, knee, calcaneus, and dominant distal radius before the beginning of the exercise regimen and
at 12 and 18 months of training using dual-energy x-ray absorptiometry (DXA). As an indicator of the total osteogenic effect
of the training, ΣBMC was derived by summing up the BMC values of the loaded sites (i.e., the lower limb sites and the lumbar
spine). The mean ΣBMC increased 2.0% in the bb group, 3.0% in the Bb group, and 2.8% in the BB group (P= 0.184 for the intergroup difference), but only 0.8% in the controls (exercisers versus controls, P < 0.001). Individuals with the BB genotype of the VDR gene, subjects with whom the BMC can be lower than normal and whose
bones can be less responsive to pharmacological therapies than bones of the other individuals, seem to have as good osteogenic
response to mechanical loading as subjects with other VDR genotypes. Thus, irrespective of the VDR genotype, physical activity
seems to be beneficial for bones of premenopausal women.
Received: 14 May 1997 / Accepted: 14 November 1997 相似文献
15.
F. E. Alenfeld E. Diessel M. Brezger J. Sieper D. Felsenberg J. Braun 《Osteoporosis international》2000,11(5):400-407
Periarticular osteopenia is the earliest radiographic sign of rheumatoid arthritis (RA). Recent studies using dual-energy
X-ray absorptiometry (DXA) have indicated that the loss of periarticular BMD can be quantified by whole-hand bone mineral
density (BMD) measurements. The aim of this study was to analyze periarticular BMD in more detail by DXA and quantitative
ultrasound (QUS). In a cross-sectional study 23 women aged 30–76 years with early RA, mean disease duration 26 ± 19 months,
and 18 men aged 42–69 years, mean disease duration 24 ± 25 months, were examined. All patients received antirheumatic therapy.
The reference population consisted of 103 age-matched controls (68 females, 35 males) and young healthy controls. BMD measurements
were performed using a DXA Expert XL densitometer (Lunar). BMD of the whole-hand and two subregions was determined: two subchondral
regions of interest (S.CH.) were set within the trabecular bone, distal to the proximal interphalangeal joints of digits II
and III excluding the dense subchondral bone of the metacarpophalangeal (MCP) joint and two metacarpal regions of interest
(MCP) were set including the entire MCP joint of these fingers. QUS measurements at the proximal phalanges of digits II–V
were performed using a DBM Sonic (Igea); amplitude-dependent speed of sound (Ad-SoS) was determined. In comparison with whole-hand
BMD measurements, bone loss was pronounced in patients with a disease duration of 18–72 months at the subchondral regions
of interest in both genders compared with age-matched controls (women: mean BMD loss S.CH. −23%, p<0.001, whole-hand −16%, p<0.001; men: mean BMD loss S.CH. −19%, p<0.05, whole-hand −12%, p<0.05). The bone changes were also shown by QUS (women: Ad-SOS values of 1950 ± 90 m/s in RA vs 2137 ± 35 m/s in young healthy
controls (p<0.005); men AD-SOS 1956 ± 87 m/s in RA vs 2146 ± 41 m/s in young healthy controls (p<0.05)). These results show that BMD and Ad-SOS values are significantly lowered in patients with early RA and indicate that
periarticular osteoporosis in early RA might possibly be better detected using detailed hand scan analyses.
Received: 2 February 1999 / Accepted: 25 October 1999 相似文献
16.
Does the vitamin D receptor genotype predict bone mineral loss in haemodialysed patients? 总被引:2,自引:0,他引:2
Karkoszka H; Chudek J; Strzelczyk P; Wiecek A; Schmidt-Gayk H; Ritz E; Kokot F 《Nephrology, dialysis, transplantation》1998,13(8):2077-2080
Background. It has been suggested that the vitamin D
receptor (VDR) gene BsmI-polymorphism is a genetic determinant of bone
metabolism. Design. To test this hypothesis, the
relationship between VDR genotypes, bone mineral density (baseline and
after 18 months) and parameters of calcium metabolism and bone turnover
were investigated prospectively in 88 haemodialysed patients not receiving
active vitamin D metabolites. Methods. Whole body,
lumbar spine and femoral neck bone mineral density (BMD) were assessed by
dual energy X-ray absorptiometry (DEXA). In addition calcium, phosphorus,
25(OH)D3, 1,25(OH)2D3, osteocalcin serum concentrations, alkaline
phosphatase activity and intact, 1,84 PTH levels were measured.
Results. VDR genotype BB, Bb and bb were found in 27,
49 and 24% of patients. Initial BMD (g/cm2) of whole
body, lumbar spine and femoral neck did not differ between genotypes (whole
body: BB 1.055 ± 0.120, Bb 1.082 ± 0.102, bb 1.128
± 0.120; lumbar spine: BB 1.075 ± 0.199, Bb 1.079
± 0.185, bb 1.099 ± 0.170; femoral neck: BB 0.808
± 0.160, Bb 0.862 ± 0.127, bb 0.842 ±
0.125; mean ± SD), but the decrease of whole body and femoral
neck BMD during 18 months was significantly (P
< 0.02) different between the genotype groups (whole body: BB -0.048
± 0.028, Bb -0.031 ± 0.029, bb -0.024 ±
0.023; femoral neck BB -0.044 ± 0.069, Bb -0.032 ±
0.081, bb -0.012 ± 0.029 g/cm2).
Conclusions. This preliminary study suggests faster
mineral loss in BB genotype of VDR in haemodialysed patients. 相似文献
17.
Introduction The associations between vitamin D receptor (VDR) Bsm I and Fok I genotypes, parity, and risk of osteoporotic hip fracture were evaluated in a statewide population-based case-control study in Utah.Methods Women age 50–89 years with hip fracture (n=882) were ascertained via surveillance of 18 Utah hospitals from 1997 to 2001. Age-matched controls were randomly selected (n=897). Participants were interviewed in their homes, and blood samples were collected for genotyping.Results In logistic regression analyses that controlled for multiple confounders, Bsm I VDR genotype but not Fok I genotype was associated with risk of osteoporotic hip fracture (OR bb vs. BB genotype: 0.68; 95% CI: 0.50, 0.95). In similar analyses, no overall association was observed between parity status and risk of osteoporotic hip fracture. However, the effect of VDR genotype was modified by parity status. Among nulliparous women (n=140), Bsm I genotype was not associated with risk of hip fracture (OR bb vs. BB: 0.82; 95% CI: 0.28, 2.4); among primiparous women (n=133), bb genotype was associated with increased risk of hip fracture (OR bb vs. BB: 3.30; 95% CI: 0.96, 11.29); among multiparous women (n=1,400), bb genotype was associated with decreased risk of hip fracture (OR bb vs. BB: 0.59; 95% CI: 0.42, 0.84).Conclusion VDR Bsm I genotype was associated with risk of hip fracture in Utah women, and this effect was modified by parity status. Hormonal or lifestyle factors related to parity may underlie this interaction. 相似文献
18.
Polymorphism at an Sp1 Binding Site of COL1A1 and Bone Mineral Density in Premenopausal Female Twins and Elderly Fracture Patients 总被引:3,自引:0,他引:3
F. G. Hustmyer G. Liu C. C. Johnston J. Christian M. Peacock 《Osteoporosis international》1999,9(4):346-350
Polymorphism at an Sp1 binding site in the COL1A1 gene has been reported to be associated with bone mineral density (BMD)
and osteoporotic vertebral fracture. We therefore examined for associations and linkage of the Sp1 polymorphism in the COL1A1
gene and BMD at the lumbar spine and femoral neck in 38 monozygotic (MZ) and 40 dizygotic (DZ) twin pairs of white adult women.
All twins were premenopausal with an age range of 21–49 years. Sp1 genotypes of 56 patients with idiopathic osteoporotic vertebral
fracture were examined for a preponderance of either genotype relative to our normal healthy twin subjects. In the twin sample
no significant association was found between Sp1 genotypes and BMD at the spine and femoral neck. No linkage of Sp1 genotype
and BMD at the spine or femoral neck was observed in DZ twins discordant for genotype. Frequencies of Sp1 genotypes were similar
in our healthy (twin) and fracture population samples. In conclusion, in our American sample of premenopausal twins we found
no association or linkage of the Sp1 polymorphism at the COL1A1 gene and BMD at the lumbar spine and femoral neck, and no
over-representation of any Sp1 genotype was observed in our sample of patients with osteoporotic vertebral fracture. Taken
together these results indicate that the Sp1 polymorphism is not related to BMD in our American sample, and contrasts with
the findings in a British population.
Received: 16 November 1997 / Accepted: 12 June 1998 相似文献
19.
Hong-Wen Deng Jian Li Jin-Long Li M. Johnson G. Gong R. R. Recker 《Osteoporosis international》1999,9(6):499-507
Much work has been done on the association between vitamin D receptor (VDR) genotypes and bone mineral density (BMD). Despite
considerable effort, the results are inconsistent. While the VDR association remains unresolved, studies have expanded to
other candidate genes (i.e., estrogen receptor (ER) genotypes), also yielding inconsistent results. A few studies have suggested
that interaction effects between VDR and ER genotypes significantly affect BMD. We assessed associations of BMD with VDR BsmI genotypes, and ER XbaI and PvuII polymorphisms (denoted as ERX and ERP respectively) with spine, femoral neck, distal radius BMD, and with total body bone
mineral content (tbBMC) in 108 US Mid-western postmenopausal Caucasian women. We statistically controlled for confounding
factors such as height, weight, etc., in the analysis. No significant association was detected for ER genotypes with spine
and radius BMD, or for VDR genotypes with femoral neck and radius BMD and tbBMC. No significant interaction between VDR and
ER genotypes was detected in our sample. However, the VDR genotypes are significantly (p = 0.004) associated with *5.8% spine BMD variation. Both ERX and ERP genotypes are significantly (p = 0.02) associated with *3.5% femoral neck BMD variation. ERX genotypes are significantly (p = 0.03) associated with *2.4% tbBMC variation. However, if the data were analyzed by simple ANOVA as in some previous studies,
without adjusting statistically for confounding factors, all the significant results we found here would have gone undetected.
Our findings suggest that: (1) VDR and ER genotypes may have different effects on BMD at different sites and on tbBMC; and
(2) if significant factors influencing bone are not appropriately controlled, true significant associations can easily be
missed. These findings may offer a partial explanation for some of the earlier inconsistent results of association studies
on BMD with VDR and ER genotypes.
Received: 4 August 1998 / Accepted: 2 November 1998 相似文献
20.
目的研究维生素D受体(vitamin D receptor,VDR)基因多态性在老年男性中的分布, 并进一步研究其与骨密度的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR- RFLP)方法,分析145例老年男性的VDR基因型,同时用双能X线吸收法测定腰椎及髋部骨密度。结果 VDR基因型分别为BB,0.014;Bb,0.117;bb,0.869。骨质疏松组与非骨质疏松组之间VDR基因型分布频率的差异无显著性(P>0.05)。比较各基因型组的骨密度,bb组及 Bb组只有在股骨颈处显示出BMD均低于BB组,差异有显著性(P<0.05),其它部位,三个基因型组的BMD均差异无显著性(P>0.05)。结论老年男性VDR基因型分布频率与某些西方国家人群分布不同,其VDR基因型与骨密度无明显相关性。VDR基因可能不是我们所研究群体 BMD的主要遗传基因。 相似文献