Fractures of the proximal femur: correlation with vitamin D receptor gene polymorphism

Ramalho, Ana Claudia; Lazaretti-Castro, Marise; Hauache, Omar M.; Kasamatsu, Teresa S.; Brandão, Cynthia; Reis, André; Takata, Edmilson Takehiro; Cafalli, Francisco; Tavares, Fernando; Gimeno, Suely Godoy Agostinho; Vieira, José Gilberto H.

doi:10.1590/s0100-879x1998000700006

Cited by 21 publications

(7 citation statements)

References 18 publications

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“…A number of studies have been published over the last 3 years; some were affirmative, in the sense that they described an association between VDR genotypes and BMD, risk of fractures or rates of bone loss [60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77], whereas others did not [56, 57, 78, 79, 80, 81, 82, 83, 84, 85, 86, 87, 88, 89, 90, 91, 92, 93, 94, 95]. The subject has been debated and revised [18, 19, 20, 21, 22, 23, 24, 25, 96, 97, 98, 99, 100, 101, 102].…”

Section: Vitamin D Receptor Genementioning

confidence: 99%

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%

Genetic Determinants of Bone Mass

Audı́¹,

Garcia-Ramírez²,

Carrascosa³

1999

Horm Res Paediatr

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“…O mesmo grupo, em dois outros trabalhos (31,32), não encontrou uma prevalência maior do genótipo associado à menor massa óssea (BB) numa população de idosos com fraturas femurais nem a osteopenia observada em diabéticos insulino-dependentes estava relacionada ao polimorfismo.…”

Section: Genéticaunclassified

Fatores envolvidos no pico de massa óssea

Brandão

Vieira

1999

Arq Bras Endocrinol Metab

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A massa óssea de um indivíduo adulto, que está estreitamente relacionada ao risco de fraturas osteoporóticas, depende da diferença entre o pico de massa óssea alcançado no final do período de maturação sexual e esquelética, e as perdas acumuladas durante a vida. A enorme variabilidade observada no pico de massa óssea da adolescência está relacionada, principalmente, a fatores genéticos, mas também a parâmetros antropométricos, como peso e altura, hábitos dietéticas, influências hormonais diversas, atividade física, uso de medicamentos e doenças intercorrentes. A identificação dos fatores envolvidos na aquisição do pico de massa óssea na infância e adolescência e a compreensão deste longo período de maturação esquelética, permitirão a criação de estratégias para prevenção da osteoporose. (Arq Bras Endocrinol Metab 1999;43/6: 401-408) Unitermos: Pico de massa óssea; Densidade mineral óssea em crianças e adolescentes ABSTRACT Bone mass in the adult life, which is closely related to osteoporotic fracture risk, depends on the differences between the peak bone mass attained at the end of the sexual and skeletal maturation and the rate of involutional bone mass. The great variability in peak bone mass observed at adolescence is related not only to genetic factors, but also to diet, hormonal status, anthropometric variables, as weight and height, physical activity, drugs and intercurrent diseases. The identification of the factors involved with the acquisition of the peak bone mass and the comprehension of this long period of skeletal maturation will indicate strategies for prevention of osteoporosis. (Arq Bras Endocrinol Metab 1999;43/6: 401-408) Keywords: Peak bone mass; BMD in children and adolescents A INCIDÊNCIA DE FRATURAS OSTEOPORÓTICAS está estreitamente relacionada à massa óssea do indivíduo, que depende tanto da velocidade de perda durante a vida quanto da quantidade de tecido ósseo presente no final da puberdade e início da vida adulta. A enorme variância no pico de massa óssea é explicada não só por fatores hereditários, como também por sexo, raça, hábitos dietéticos, atividade física, influências hormonais diversas, composição corporal de massa magra e gordurosa, doenças intercorrentes, uso crônico de medicamentos. A compreensão do longo processo de maturação óssea que ocorre na infância e adolescência vai permitir identificar os fatores passíveis de alguma intervenção e a criação de estratégias para prevenção precoce da osteoporose. Se o ganho mineral ósseo puder ser otimizado durante a puberdade, é provável que o indivíduo adulto esteja menos susceptível a sofrer as devastadoras complicações da osteoporose.

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“…Twenty-three studies were performed in Caucasians, and 9 studies [12,13,[47][48][49][50][51][52][53] were subsumed into Asians. In addition, 2 interracial studies [32,54] were conducted in mixed race. The main characteristics of the selected studies are listed in Table 1.…”

Section: Eligible Studiesmentioning

confidence: 99%

Vitamin D receptor Bsm I polymorphism and osteoporosis risk in postmenopausal women: a meta-analysis from 42 studies

et al. 2020

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Objective This study aimed to quantitatively summarize the evidence for VDR BsmI gene polymorphism and osteoporosis risk in postmenopausal women. Materials and methods The PubMed, EMBASE, Weipu, CNKI, and Wanfang databases were searched for eligible studies. Case-control studies containing available genotype frequencies of B/b were chosen, and odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of this association. Results 4485 osteoporosis and 5490 controls were identified in our meta-analysis. In the stratified analysis, a significant association was observed between VDR BsmI gene polymorphism and osteoporosis susceptibility in Caucasians (additive model: OR = 0.809, 95% CI 0.678~0.965, p = 0.019; recessive model: OR = 0.736, 95% CI 0.568~0.955, p = 0.021; and co-dominant model: bb vs. BB OR = 0.701, 95% CI 0.511~0.962 p = 0.028), and we failed to find any significant relationship in Asians. Conclusion The present meta-analysis suggests that VDR BsmI genotype is associated with increased risk of postmenopausal osteoporosis in Caucasians but not in Asians. To draw comprehensive and true conclusions, further prospective studies with larger numbers of participants worldwide are needed to examine associations between VDR BsmI polymorphism and osteoporosis in postmenopausal women.

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Fractures of the proximal femur: correlation with vitamin D receptor gene polymorphism

Cited by 21 publications

References 18 publications

Genetic Determinants of Bone Mass

Genetic Determinants of Bone Mass

Fatores envolvidos no pico de massa óssea

Vitamin D receptor Bsm I polymorphism and osteoporosis risk in postmenopausal women: a meta-analysis from 42 studies

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