Genetic markers of osteoarticular disorders: Facts and hopes

Arthritis Research

Volumn 3, Issue 5, 2001, Pages 270-280

  Brandi, Maria Luisa ^a   Gennari, Luigi ^a   Cerinic, Marco Matucci ^a   Becherini, Lucia ^a   Falchetti, Alberto ^a   Masi, Laura ^a   Gennari, Carlo ^b   Reginster, Jean Yves ^c  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Candidate genes; Genetics; Multifactorial diseases; Osteoarthritis; Osteoporosis

Indexed keywords

AGE; ANIMAL MODEL; CHRONIC DISEASE; DATA ANALYSIS; DEVELOPED COUNTRY; DIAGNOSIS; DRUG THERAPY; ENVIRONMENT; ENVIRONMENTAL FACTOR; EPIDEMIOLOGY; FAMILY HISTORY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; HUMAN; JOINT; LIFESTYLE; MEDICAL ASSESSMENT; MOLECULAR BIOLOGY; MOLECULAR GENETICS; NONHUMAN; OSTEOARTHRITIS; OSTEOARTHROPATHY; OSTEOPOROSIS; POPULATION RESEARCH; PROGNOSIS; PUBLIC HEALTH; REVIEW; SKELETON;

GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KARYOTYPING; MOLECULAR BIOLOGY; OSTEOARTHRITIS; OSTEOPOROSIS; QUANTITATIVE TRAIT, HERITABLE;

EID: 0034851863     PISSN: 14659905     EISSN: None     Source Type: Journal    
DOI: 10.1186/ar316     Document Type: Review

References (141)

1. Familial osteoarthropathy of the fingers
2. Genetic influences on osteoarthritis in females: A twin study
3. Genetic determinants of bone mass in adults
4. Reduced bone mass in daughters of women with osteoporosis
5. Epidemiological study of the relationship between arthritis of the hip and hip fractures
6. Inverse relationship osteoarthritis-osteoporosis: What is the evidence? What are the consequences?
7. Osteoarthritis retards the development of osteoporosis. Observation of the coexistence of osteoarthrosis and osteoporosis
8. Osteoporosis and osteoarthritis (osteoarthrosis): Anthropometric distinctions
9. A co-twin control study of the relationship between hip osteoarthritis and bone mineral density
10. Osteoarthritis Disorders
11. Workshop on etiopathogenesis of osteoarthritis
12. Genetics and osteoarthritis. Exposing the iceberg
13. Hereditary osteoarthritis
14. Generalized osteoarthritis and Heberden's nodes
15. Genetic factors in generalized osteoarthritis
16. Heritabilities of radiologic osteoarthritis in peripheral joints and of disc degeneration of the spine
17. Prevalence of primary coxoarthrosis in siblings of patients with primary osteoarthrosis
18. Mechanical and constitutional risk factors for symptomatic knee osteoarthritis: Differences between medial tibiofemoral and patello-femoral disease
19. Genetic liability to osteoarthritis may be greater in women than in men
20. Genetic influences in end-stage osteoarthritis: Sibling risks of hip and knee replacement for idiopathic osteoarthritis
21. Evidence for a Mendelian gene in segregation analysis of generalized radiographic osteoarthritis
22. Heritable diseases of cartilage caused by mutations in collagen gene
23. Predisposition to familial osteoarthritis linked to type II collagen gene
24. Multiallelic polymorphism of the cartilage gene: No association with osteoarthritis
25. Identification of COL2A1 mutations in patients with chondrodysplasias and familial osteoarthritis
26. Sibling pair analysis shown no linkage of generalized osteoarthritis to the loci encoding type II collagen link protein or cartilage matrix protein
27. Genetic linkage analysis of 14 gene loci in a family with autosomal dominant osteoarthritis without dysplasia
28. Linkage of early onset osteoarthritis and chondrocalcinosis to human chromosome 8q
29. Association of two loci on chromosome 2q with nodal osteoarthritis
30. Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage
31. Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16
32. Genome scan for predisposing loci for distal interfalangeal joint osteoarthritis: Evidence for a locus on 2q
33. Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35
34. Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis
35. Linkage analysis of chromosome 2q in osteoarthritis
36. The relationship of the menopause to degenerative joint disease of the fingers
37. Generalized osteoarthritis: A hormonally mediated disease
38. Estrogen receptor gene polymorphism and generalized osteoarthritis
39. Association of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis
40. Prediction of bone density from vitamin D receptor allele
41. Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee
42. Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene
43. Allelic variation in the vitamin D receptor, lifestyle factors and lumbar spinal degenerative disease
44. A genetic association study of the IGF-I gene and radiological osteoarthritis in a population-based cohort study (the Rotterdam study)
45. Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage
46. Haplotype analysis of three polymorphisms of the COL2A1 gene and association with generalized radiological osteoarthritis
47. Adjacent genes, for COL2A1 and vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee
48. Association of transforming growth factor beta 1 genotype with spinal osteophytosis in Japanese women
49. An association between an aggrecan polymorphic allele and bilateral hand osteoarthritis in elderly white men: Data from the Baltimore Longitudinal Study of Aging (BLSA)
50. Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR, COL1A1, and COL2A1 in postmenopausal women
51. Vitamin D receptor gene polymorphisms and osteoarthritis of the hand, hip, and knee: A case-control study in Japan
52. Joint contact mechanisms in the early stages of osteoarthritis
53. Ex vivo gene transfer to chondrocyte in full-thickness articular cartilage defects: A feasibility study
54. In vivo suppression of early experimental osteoarthritis by IL1 receptor antagonist using gene therapy
55. Role of the mouse ank gene in control of tissue calcification and arthritis
56. Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1
57. Prophylaxis and treatment of osteoporosis
58. Genetic studies of complex diseases: Let the reader beware
59. Vitamin D receptor gene polymorphisms do not predict bone turnover and bone mass in healthy premenopausal women
60. The association between vitamin D receptor gene polymorphisms and bone mineral density at the spine, hip and whole body in premenopausal women
61. Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women
62. Vitamin D receptor alleles do not predict bone mineral density or bone loss in Danish perimenopausal women
63. Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss and bone mass in postmenopausal women: The OFELY study
64. A large scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral density
65. Influence of vitamin D receptor gene alleles on bone mineral density in postmenopausal and osteoporotic women
66. Correlation between vitamin D receptor genotypes and bone mineral density in Japanese patients with osteoporosis
67. Vitamin D and estrogen receptor allelic variants in postmenopausal women: Evidence of multiple gene contribution on bone mineral density
68. Relation of common allelic variation at vitamin D receptor locus to bone mineral density and postmenopausal bone loss: Cross sectional and longitudinal population study
69. Lack of relationship between vitamin D receptor genotype and forearm bone gain in healthy children, adolescents, and young adults
70. Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life
71. Vitamin D receptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent
72. Do dietary calcium and age explain the controversy surrounding the relationship between bone mineral density and vitamin D receptor gene polymorphisms?
73. Genetic influences on bone density: Physiological correlates of vitamin D receptor gene alleles in premenopausal women
74. Vitamin D receptor gene polymorphisms, bone turnover, and rates of bone loss in older African-American women
75. Vitamin D receptor gene polymorphisms and bone loss
76. Vitamin D receptor alleles and rates of bone loss: Influences of years since menopause and calcium intake
77. Calcium absorption on high and low calcium intake in relation to vitamin D receptor genotype
78. Effect of vitamin D receptor genotypes on calcium absorption, duodenal vitamin D receptor concentration, and serum 1,25 dihydroxyvitamin D levels in normal women
79. Relations between calcium intake, calcitriol, polymorphisms of vitamin D receptor gene, and calcium absorption in premenopausal women
80. Vitamin D receptor genotypes and intestinal calcium absorption in postmenopausal women
81. Vitamin D receptor polymorphism, bone mineral density and osteoporotic vertebral fracture: Studies in a UK population
82. 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
83. Vitamin D receptor gene polymorphisms are associated with osteoporosis in Japanese women
84. Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis
85. The association of bone mineral density with vitamin D receptor gene polymorphisms
86. Vitamin D receptor gene polymorphisms and change in lumbar spine bone mineral density
87. Determinants of postmenopausal bone mineral density: The interplay of genetic and lifestyle factors
88. The BsmI vitamin D receptor restriction fragment length polymorphism (bb) influences the effect of calcium intake on bone mineral density
89. Bone mineral density and its change in white women: Estrogen and vitamin D receptor genotypes and their interaction
90. Quantification of vitamin D receptor mRNA by competitive polymerase chain reaction in PBMC: Lack of correspondence with common allelic variants
91. Vitamin D receptor: No evidence for allele-specific mRNA stability in cells that are heterozygous for the Taq I restriction enzyme polymorphism
92. Vitamin D receptor gene polymorphism: Analysis of ligand binding and hormone responsiveness in cultured fibroblasts
93. 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
94. A vitamin D receptor gene polymorphism in the translation initiation codon: Effect on protein activity and relation to bone mineral density in Japanese women
95. The vitamin D receptor start codon polymorphism (Fok I) and bone mineral density in premenopausal American black and white women
96. Fok I polymorphism at translation initiation site of the vitamin D receptor gene predicts bone mineral density and vertebral fractures in postmenopausal Italian women
97. Lack of correlation between start codon polymorphism of the vitamin D receptor gene and bone mineral density in premenopausal French women: The OFELY study
98. Vitamin D receptor gene start codon polymorphisms (Fok I) and bone mineral density: Interaction with age, dietary calcium, and 3′-end region polymorphisms
99. Evidence of estrogen receptors in normal human osteoblast-like cells
100. Osteoclasts isolated from membranous bone in children exhibit nuclear estrogen and progesterone receptors
101. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man
102. Insights from the study of animals lacking functional estrogen receptor
103. Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis
104. Association of bone mineral density with polymorphism of estrogen receptor gene
105. Non association of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women
106. Pvull polymorphisms of the estrogen receptor gene alpha and bone mineral density in healthy Southern Chinese women
107. No major effect of estrogen receptor polymorphisms on bone mineral density or bone loss in postmenopausal Danish women
108. Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women
109. Genetic markers, bone mineral density and serum osteocalcin levels
110. A TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not
111. Estrogen receptor alpha gene polymorphisms and bone mineral density: Haplotype analysis in women from the United Kingdom
112. Bone disease cracks genetics
113. Reduced bone density and osteoporosis associated with polymorphic SP1 site in the collagen type I alpha 1 gene
114. Relation of alleles of the collagen type Iα1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women
115. Collagen Iα1 Sp1 polymorphism, bone mass, and bone turnover in healthy French postmenopausal women: The OFELY study
116. An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in men and women
117. Association of polymorphism at the type I collagen (COLIA1) locus is associated with reduced bone mineral density, increased collagen turnover
118. Polymorphism at the Sp1 binding site in the collagen type I alpha gene does not predict bone mineral density in postmenopausal women in Sweden
119. Polymorphism at the Sp1 binding site of COLIA1 and bone mineral density in pre-menopausal female twins and elderly fracture patients
120. Relationship between COLIA1 Sp1 alleles, gene transcription, collagen production and bone strength
121. Polymorphisms of the interleukin-6 gene are associated with bone mineral density
122. A sequence variation: 713-delC in the transforming growth factor-β1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased both osteoporotic and normal women
123. Association of bone mineral density with apolipoprotein E phenotype
124. Allelic variant of human calcitonin receptor: Distribution and association with bone mass in postmenopausal Italian women
125. Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women
126. Analysis of 22 families suggests the feasibility of linkage studies in osteoporosis
127. Familial osteoporosis pedigrees
128. Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13
129. First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q
130. A genome-wide scan for loci linked to forearm bone mineral density
131. Suggestive linkage of the parathyroid receptor type 1 to osteoporosis
132. Genetic dissection of complex traits
133. The future of genetic studies of complex human diseases
134. Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis
135. Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)
136. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDMM)
137. Advantages and limitations of non human primates as animal models in genetic research on complex disease
138. Spontaneous fracture (sfx): A mouse genetic model of defective peripubertal bone formation
139. Analysis of human transcriptomes
140. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia
141. A limited association of generalized osteoarthritis with alleles at the type II collagen locus: COL2A1