Vitamin D receptor genotypes and bone mineral density

Kröger, Heikki; Mahonen, Anitta; Ryhänen, Sanna; Turunen, A-M.; Alhava, Esko; Mäenpää, Pekka H.; Matsuyama, Toshikatsu; Ishii, Seiichi; Tokita, Akifumi; Yabuta, Keijiro; Yamamori, Shunji; Morrison, N A; Eisman, J. A.; Ferrari, Serge; Rizzoli, René; Chevalley, Thierry; Eisman, John A.; Bonjour, J. P.

doi:10.1016/s0140-6736(95)92019-6

Cited by 127 publications

(54 citation statements)

References 7 publications

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“…Kröger et al [45]in Finland, Keen et al [46]in England and Lim et al [47]in Korea have not confirmed the existence of a relationship between VDR gene and BMD. Kröger et al [45]studied a small group (n = 23) of women in the early postmenopausal phase and determined BMD, annual loss of BMD, biochemical markers of bone formation (procollagen I, osteocalcin and bone alkaline phosphatase) and resorption (collagen I telopeptide) and serum levels of 25- and 1,25-OH-vitamin D. They found no differences in BMD (initial and annual loss), or in vitamin D levels (25- and 1,25-OH) with respect to the different VDR genotypes. However, higher levels of osteocalcin and telopeptide in patients with the bb genotype compared to those with the BB genotype were observed, suggesting that patients with the bb genotype present more active bone metabolism.…”

Section: Vitamin D Receptor Genementioning

confidence: 99%

“…Ferrari et al [49]stated that these differences could be explained by differences in the populations studied. While Kröger et al [45]and Keen et al [46]studied postmenopausal patients whose bone mass loss is secondary to estrogen deficiency, Ferrari et al [48]studied an old population, not deficient in vitamin D, in whom the vitamin D endocrine system could be more directly implicated in the physiopathology of bone mineral loss. According to these authors, the higher annual BMD loss in the femoral neck observed in BB patients in the study of Keen et al [46], though not statistically significant, if maintained for several years could lead to a substantial increase in the risk of fractures in BB genotype individuals.…”

Section: Vitamin D Receptor Genementioning

confidence: 99%

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Genetic Determinants of Bone Mass

Audı́¹,

Garcia-Ramírez²,

Carrascosa³

1999

Horm Res Paediatr

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A genetic contribution to bone mass determination was first described in the early 70s. Elucidation of gene contribution to this has since been attempted through studies analyzing associations between bone mass acquisition and/or maintenance and polymorphic variations of several genes. The first to be described was the vitamin D receptor gene (VDR), initially claimed to contribute to almost 75% of the genetic variation in bone mineral density (BMD) in twin and general population studies. Not all of the studies published to date conclude that a clear relationship exists between polymorphic VDR alleles and BMD, and the molecular basis for the VDR gene polymorphisms influence on bone mineralization has not yet been clarified. Since then, other genes with a significant role in bone metabolism such as estradiol receptor, collagen type 1_α1, TGF-β₁, interleukin-6, calcitonin receptor, α₂-HS-glycoprotein, osteocalcin, calcium-sensing receptor, interleukin-1 receptor antagonist, β₃-adrenergic receptor, apolipoprotein E, PTH, IGF-I and glucocorticoid receptor have been analyzed. Some polymorphic variations in these genes have been associated in some works with significant differences in BMD, with even more significant contributions when associations of different gene polymorphisms were analyzed. Again, the molecular basis for the contribution of these alleles to bone mass determination has not yet been described. A different approach has been attempted by linkage analysis of loci involved in bone density in pedigrees with low BMD using BMD as a quantitative trait. Recent results do not confirm, in these families, any association with any of the previously reported genes, but rather with other as yet unidentified genes. The genetic contribution to mild variations in the general population, as a result of environmental and endogenous individual influences, probably differs completely from that providing a pathologic BMD.

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Section: Vitamin D Receptor Genementioning

confidence: 99%

Section: Vitamin D Receptor Genementioning

confidence: 99%

Genetic Determinants of Bone Mass

Audı́¹,

Garcia-Ramírez²,

Carrascosa³

1999

Horm Res Paediatr

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“…No association has been observed be-tween the BsmI VDR polymorphism and BMD in white, female American twins (13) and in premenopausal Finnish women. (14) Riggs and coworkers (17) observed an effect of the VDR genotype at the femoral neck (FN) BMD, which was the greatest in young adulthood. The relative differences declined progressively until age of 70, with no effect afterward.…”

Section: G Enetic Influences On Bone Mineral Density (Bmd)mentioning

confidence: 99%

Influence of the Vitamin D Receptor Gene Alleles on Bone Mineral Density in Postmenopausal and Osteoporotic Women

Vandevyver¹,

Wylin²,

Cassiman³

et al. 1997

Journal of Bone and Mineral Research

105

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“…VDR genotype seems to influence Ca metabolism: women of bb genotype showed a greater response in Ca absorption to increased serum 1,25-dihydroxyvitamin D (1,25(OH) 2 VD) resulting from a restricted Ca intake [13], as well as greater bone response to 1,25(OH) 2 VD supplementation [14], than those of BB genotype. An interaction of VDR genotype with physical activity on bone could thus be mediated through Ca metabolism.…”

Section: Discussionmentioning

confidence: 99%

“…To understand such a discordance in the contribution of VDR polymorphisms to BMD, interactions with other genetic or environmental factors need to be investigated. For instance, intestinal calcium (Ca) absorption or response of Ca metabolism to vitamin D supplementation could be modified by the VDR genotype [12, 13, 14]. …”

Section: Introductionmentioning

confidence: 99%

Does Vitamin D Receptor Polymorphism Influence the Response of Bone to Brisk Walking in Postmenopausal Women?

Tsuritani¹,

Brooke‐Wavell²,

Mastana³

et al. 1998

Horm Res Paediatr

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Vitamin D receptor (VDR) polymorphism may be a genetic factor affecting bone mineral density (BMD). This study examined the interaction of VDR genotype with the effect of an exercise intervention on bone measurements in UK postmenopausal women. 33 walkers, who completed 20.4 ± 3.9 (mean ± SD) min day^–1 of brisk walking over 1 year, and 36 controls agreed to give DNA samples. BMD was measured at the lumbar spine, femoral neck and calcaneus by dual energy X-ray absorptiometry and broadband ultrasonic attenuation (BUA) was measured at the calcaneus. VDR genotype was determined by BsmI restriction fragment length polymorphisms and the presence, or absence, of the restriction site was signified by ‘b’ or ‘B’, respectively. At baseline there was no significant difference in BMD between VDR genotypes, but BUA was significantly higher in the BB genotype than in the Bb or bb genotype. Although there was no significant difference in 1-year change (%) in BMD and BUA between the three genotypes, the 1-year changes in spinal BMD and BUA in the bb walkers (0.75 and 2.35%, respectively) were significantly different from those in the bb controls (–1.25 and –6.10%, respectively). These results suggest that in the bb genotype of VDR, bone may be more responsive to exercise than in other VDR genotypes in British postmenopausal women.

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Vitamin D receptor genotypes and bone mineral density

Cited by 127 publications

References 7 publications

Genetic Determinants of Bone Mass

Genetic Determinants of Bone Mass

Influence of the Vitamin D Receptor Gene Alleles on Bone Mineral Density in Postmenopausal and Osteoporotic Women

Does Vitamin D Receptor Polymorphism Influence the Response of Bone to Brisk Walking in Postmenopausal Women?

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