The genetics of osteoporosis: Future diagnostic possibilities

Clinics in Laboratory Medicine

Volumn 20, Issue 3, 2000, Pages 527-547

  Brown, M A ^a   Eisman, J A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ENVIRONMENTAL FACTOR; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC LINKAGE; GENETIC RISK; GENOME; HEREDITY; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT;

EID: 0033837092     PISSN: 02722712     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0272-2712(18)30051-9     Document Type: Review

References (135)

1. A general test of association of quantitative traits in nuclear families
2. Association mapping of a locus for regulation of bone mass in the normal population using DNA pooling
3. Transmission-disequilibrium tests for quantitative traits
4. A vitamin D receptor gene polymorphism in the translation initiation codon: Effect on protein activity and relation to bone mineral density in Japanese women
5. The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: A study of postmenopausal twins
6. Vitamin D receptor gene polymorphism, bone mass, body size, and vitamin D receptor density
7. Broadband ultrasound attenuation predicts fractures strongly and independently of densitometry in older women. A prospective study
8. Fracture rate, pre- and postmenopausal bone mass and early and late postmenopausal bone loss are not associated with vitamin D receptor genotype in a high-endemic area of osteoporosis
9. Susceptibility to ankylosing spondylitis in twins: The role of genes, HLA, and the environment
10. Quantitative ultrasound of the calcaneus reflects the mechanical properties of calcaneal trabecular bone
11. Effect of testosterone and estradiol in a man with aromatase deficiency
12. New approaches for interpreting projected bone densitometry data
13. The combined use of ultrasound and densitometry in the prediction of vertebral fracture
14. Accessing genetic information with high-density DNA arrays
15. Heritability of bone mass: A longitudinal study in aging male twins
16. Bone mass in middle-aged osteoporotic men and their relatives: Familial effect
17. Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts
18. Risk factors for hip fracture in white women. Study of Osteoporotic Fractures Research Group
19. Familial resemblance of bone mineral density (BMD) and calcaneal ultrasound attenuation: The BMD in mothers and daughters study
20. Calcium absorption on high and low calcium intakes in relation to vitamin D receptor genotype
21. Relationship between COL1A1 Sp1 alleles, gene transcription, collagen production and bone strength
22. First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q
23. A comprehensive genetic map of the human genome based on 5,264 microsatellites
24. Lumbar vertebral and femoral neck bone mineral density are higher in postmenopausal women with the alpha 2HS-glycoprotein 2 phenotype
25. A novel polymorphism in the promoter region for the human osteocalcin gene: The possibility of a correlation with bone mineral density in postmenopausal Japanese women
26. A candidate linkage screen in osteoporosis
27. 'Suggestive' linkage of the parathyroid receptor type 1 to osteoporosis
28. COL1A1 and osteoporosis within-family association studies suggest parent-of-origin effect
29. Bone mineral density of relatives of male and female patients with osteoporosis
30. Lack of correlation between start codon polymorphism of the vitamin D receptor gene and bone mineral density in premenopausal French women: The OFELY study
31. Genetic variation in two bone-related proteins: Is there an association with bone mineral density or skeletal size in postmenopausal women?
32. Vitamin D receptor gene alleles and osteoporosis: An affirmative view
33. Increased expression of TGF-beta 2 in osteoblasts results in an osteoporosis-like phenotype
34. Osteoblastic responses to TGF-beta during bone remodeling
35. Bone mass is low in relatives of osteoporotic patients
36. Bone mineral mass and calcium and phosphate metabolism in young men: Relationships with vitamin D receptor allelic polymorphisms
37. Vitamin-D-receptor-gene polymorphisms and change in lumbar-spine bone mineral density
38. Vitamin D receptor gene start codon polymorphisms (FokI) and bone mineral density: Interaction with age, dietary calcium, and 3'-end region polymorphisms
39. Do dietary calcium and age explain the controversy surrounding the relationship between bone mineral density and vitamin D receptor gene polymorphisms?
40. Bone density determinants in elderly women: A twin study
41. Family history and risk of osteoporotic fracture
42. Vitamin D receptor gene polymorphism in men and its effect on bone density and calcium absorption
43. Genetic influence on bone turnover in postmenopausal twins
44. Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: The OFELY study
45. Decreased bone mass and bone elasticity in mice lacking the transforming growth factor-beta 1 gene
46. Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: Evidence of multiple gene contribution to bone mineral density
47. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
48. Effect of vitamin D receptor gene alleles on bone loss in early rheumatoid arthritis
49. The effect of vitamin D supplementation on the bone mineral density of the femoral neck is associated with vitamin D receptor genotype
50. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene
51. The epidemiology of quantitative ultrasound: A review of the relationships with bone mass, osteoporosis and fracture risk
52. The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women
53. The vitamin D receptor gene start codon polymorphism: A functional analysis of FokI variants
54. Segregation analysis and variance components analysis of bone mineral density in healthy families
55. Nonassociation of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women
56. Is heritability a risk factor for postmenopausal osteoporosis?
57. Role of peak bone mass and bone loss in postmenopausal osteoporosis: 12 year study
58. Genetic and environmental correlations between bone formation and bone mineral density: A twin study
59. The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women
60. Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation
61. Stimulation of osteoprotegerin ligand and inhibition of osteoprotegerin production by glucocorticoids in human osteoblastic lineage cells: Potential paracrine mechanisms of glucocorticoid-induced osteoporosis
62. Interleukin-1beta and tumor necrosis factor-alpha, but not interleukin-6, stimulate osteoprotegerin ligand gene expression in human osteoblastic cells
63. Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal women
64. Genetic and environmental contributions to the association between quantitative ultrasound and bone mineral density measurements: A twin study
65. Unexpected HLA haplotype sharing in dizygotic twin pairs discordant for rheumatoid arthritis
66. Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)
67. Relation of common allelic variation at vitamin D receptor locus to bone mineral density and postmenopausal bone loss: Cross sectional and longitudinal population study
68. Environmental and genetic factors affecting bone mass. Similarity of bone density among members of healthy families
69. Independent impairment of osteoblast and osteoclast differentiation in klotho mouse exhibiting low-turnover osteopenia
70. Genetic factors in bone turnover
71. Changes in axial bone density with age: A twin study
72. Vitamin-D-receptor-gene polymorphism and bone loss
73. Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover
74. Allelic variation at the interleukin-1 receptor antagonist gene is associated with early postmenopausal bone loss at the spine
75. The BsmI vitamin D receptor restriction fragment length polymorphism (bb) influences the effect of calcium intake on bone mineral density
76. Early and late postmenopausal bone loss is associated with BsmI vitamin D receptor gene polymorphism in japanese women
77. Association between intestinal vitamin D receptor, calcium absorption, and serum 1,25 dihydroxyvitamin D in normal young and elderly women
78. Quantitative trait loci affecting peak bone mineral density in mice
79. Association of bone mineral density with polymorphism of the estrogen receptor gene
80. Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13
81. A strategy for rapid and efficient DNA sequencing by mass spectrometry
82. Heritable and life-style determinants of bone mineral density
83. Vitamin D receptor alleles and rates of bone loss: Influences of years since menopause and calcium intake
84. Prospects for whole-genome linkage disequilibrium mapping of common disease genes
85. What is significant in whole-genome linkage disequilibrium studies?
86. High-resolution genetic mapping of complex traits
87. Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women
88. A sequence variation: 713-8delC in the transforming growth factor-beta 1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women
89. An Sp1 binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in both men and women
90. Association between insulin-like growth factor I and bone mineral density in older women and men: The Framingham Heart Study
91. Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women
92. Polymorphism of insulin-like growth factor I gene and bone mineral density
93. Prediction of bone mineral density from vitamin D receptor alleles
94. Prediction of bone density by vitamin D receptor alleles
95. Contribution of trans-acting factor alleles to normal physiological variability: Vitamin D receptor gene polymorphism and circulating osteocalcin
96. Polymorphisms of the interleukin-6 gene are associated with bone mineral density
97. A genome-wide scan for loci linked to forearm bone mineral density
98. Vitamin D receptor gene alleles and osteoporosis: A contrasting view
99. Diagnostic value of estimated volumetric bone mineral density of the lumbar spine in osteoporosis
100. Genetic determinants of bone mass in adults. A twin study
101. Circulating and skeletal insulin-like growth factor-I (IGF-I) concentrations in two inbred strains of mice with different bone mineral densities
102. Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: Implications for genetic studies of bone mineral density
103. Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis
104. Reduced bone mass in daughters of women with osteoporosis
105. Reduced femoral neck bone density in the daughters of women with hip fractures: The role of low peak bone density in the pathogenesis of osteoporosis
106. Identification of peak bone mass QTL in a spontaneously osteoporotic mouse strain
107. Association of bone mineral density with apolipoprotein E phenotype
108. Genetic determinants of bone mass in adult women: A reevaluation of the twin model and the potential importance of gene interaction on heritability estimates
109. Genetic factors in determining bone mass
110. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man
111. Familiarity and partitioning the variability of femoral bone mineral density in women of child-bearing age
112. Osteopenia in 37 members of seven families: Analysis based on a model of dominant inheritance
113. Interactive effect of estradiol and vitamin D receptor gene polymorphisms as a possible determinant of growth in male and female infants
114. Modulation of osteoclast differentiation and function by the new members of the tumor necrosis factor receptor and ligand families
115. Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women
116. Overexpression of the granulocyte colony-stimulating factor gene leads to osteoporosis in mice
117. Linkage disequilibrium mapping of complex disease: Fantasy or reality?
118. From genome to aetiology in a multifactorial disease, type 1 diabetes
119. Genetic influences on type I collagen synthesis and degradation: Further evidence for genetic regulation of bone turnover
120. Prediction of perimenopausal fractures by bone mineral density and other risk factors
121. Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety
122. HLA-A*24-B*07-DRB1*01 haplotype implicated with genetic disposition of peak bone mass in healthy young Japanese women
123. Association of radial bone mineral density with CA repeat polymorphism at the interleukin 6 locus in postmenopausal Japanese women
124. Relation of alleles of the collagen type I alpha 1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women
125. A large-scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral density
126. Bone mineral density and its change in white women: Estrogen and vitamin D receptor genotypes and their interaction
127. Relations between calcium intake, calcitriol, polymorphisms of the vitamin D receptor gene, and calcium absorption in premenopausal women
128. Ultrasound characterization of bone demineralization
129. Comparison of the power and accuracy of biallelic and microsatellite markers in population-based gene-mapping methods
130. Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice
131. Association of a polymorphism of the transforming growth factor-beta 1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women
132. Vitamin D receptor gene polymorphism and bone mineral density in healthy Japanese women
133. Vitamin D receptor gene polymorphisms, bone turnover, and rates of bone loss in older African-American women
134. Genetic Variation in alpha 2HS-glycoprotein is related to calcaneal broadband ultrasound attenuation in older women