Genetic background of osteoporosis

Acta Medica Austriaca

Volumn 27, Issue 1, 2000, Pages 18-22

  Obermayer Pietsch, Barbara ^a   Chararas, Cornelia ^b   Kotschan, Sabine ^b   Walter, Daniela ^b   Leb, G ^b  

^a UNIVERSITY OF GRAZ   (Austria)

^b NONE

Author keywords

Candidate genes; Environmental influences; Genetic basis; Osteoporosis; Polymorphisms

Indexed keywords

FAMILY; FRACTURE; GENETIC MARKER; GENETICS; HUMAN; OSTEOPOROSIS; REVIEW; RISK FACTOR; TWINS;

FAMILY; FRACTURES, BONE; GENETIC MARKERS; HUMANS; OSTEOPOROSIS; RISK FACTORS; TWIN STUDIES;

EID: 0033644633     PISSN: 03038173     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1563-2571.2000.00104.x     Document Type: Article

References (70)

1. Arai H, Miyamoto K, Taketani Y et al: A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Mineral Res 1997;12:915-921.
2. Barger-Lux MJ, Heaney RP, Hayes J et al: Vitamin D receptor gene polymorphism, bone mass, body size, and vitamin d receptor density. Calcif Tissue Int 1995;57:161-162.
3. Beaven S, Prentice A, Yan L et al: Differences in vitamin D receptor genotype and geographical variations in osteoporosis. Lancet 1996;348:136-7.
4. Carling T, Kindmark A, Hellman P et al: Vitamin D receptor genotypes in primary hyperparathyroidism. Nature Med 1995;12(1): 1309-11.
5. Cooper GS, Umhach DM: Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J Bone Miner Res 1996; 11(12):1841-49.
6. Cummings SR, Nevitt MC, Warren S et al: Risk factors for hip fracture in white women. N Engl J Med 1995;332:767-73.
7. Danielson ME, Cauley JA, Baker CE et al: Familial resemblance of bone mineral density (BMD) and calcaneal ultrasound attenuation: the BMD in mothers and daughters study. J Bone Miner Res 1999;14:102-110.
8. Dequeker J, Nijs J, Verstraeten A et al: Genetic determinants of bone mineral content at the spine and radius: a twin study. Bone 1987;207-9.
9. Dohi Y, Iki M, Ohgushi H et al: A novel polymorphism in the promotor region for the human osteocalcin gene: the possibility of a correlation with bone mineral density in postmenopausal Japanese women. J Bone Miner Res 1998;13:1633-1639
10. Eisman JA: Genetics, calcium intake and osteoporosis. Proc Nutr Soc 1998;57:187-193.
11. Ferrari S, Rizzoli R, Chevalley T et al: Vitamin-D-receptor-gene polymorphisms and change in lumbar-spine bone mineral density. Lancet 1995; 345:423-24.
12. Ferrari SL, Rizzoli R, Manen D et al: Vitamin D receptor gene start codon polymorphisms (Fokl) and bone mineral density: interaction with age, dietary calcium, and 3' end region polymorphisms. J Bone Miner Res 13: 925-930.
13. Ferrari SL, Rizzoli R, Slosman DO et al: Do dietary calcium and age explain the controversy surrounding the relationship between bone mineral density and vitamin D receptor gene polymorphisms? J Bone Miner Res 1998;13:363-370.
14. Fleet JC, Harris SS, Wood RJ et al: The Bsml vitamin D receptor restriction fragment length polymorphism (BB) predicts low bone density in premenopausal black and white women. J Bone Miner Res 1995;10:985-990.
15. Garn SM, Poznanski AK, Nagy JM et al: Population differences and family-line differences in cortical thickness. Radiology 1971;100:509-518.
16. Garnero P, Borel O, Sornay-Rendu E et al: Vitamin D receptor gene polymorphisms do not predict bone turnover and bone mass in healthy premenopausal women. J Bone Miner Res 1995;10:1283-1288.
17. Gaugh A, Sambrook P, Devlin J et al: Effect of vitamin D receptor gene alleles on bone loss in early rheumatoid arthritis. J Rheumatol 1998;25: 864-868.
18. Gennari L, Becherini L, Masi L et al: Vitamin D receptor genotypes and intestinal calcium absorption in postmenopausal women. Calcif Tissue Int 1997;61:460-463.
19. Graafmans WC, Lips P, Ooms ME et al: The effect of vitamin D supplementation on the bone mineral density of the femoral neck is associated with vitamin D receptor genotype. J Bone Miner Res 1997;12:1241-1245.
20. Grant SF, Reid DM, Blake G et al: Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 1996;14(2):203-5.
21. Gross C, Eccleshall TR, Malloy P et al: 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. J Bone Miner Res 1996;11(12):1850-1855.
22. Gross C, Krishnan AV, Malloy PJ et al.:The vitamin D receptor gene start codon polymorphism: a functional analysis of FokI variants. J Bone Miner Res 1998;13:1691-1699.
23. Han KO, Moon IG, Hwang CS et al: Lack of an intronic Sp1 binding-site polymorphism at the collagen type I alpha 1 gene in healthy Korean women. Bone 1999;24:135-137.
24. Han KO, Moon IG, Kang YS et al: Nonassociation of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women. J Clin Endocrinol Metab 1997;82:991-995.
25. Hasemann JK, Elston RC: The investigation of linkage between a quantitative trait and a marker locus. Behav Gen 1970;2:3-19.
26. Hauache OM, Lazaretti-Castro M, Andreoni S et al: Vitamin D receptor gene polymorphism: correlation with bone mineral density in a Brazilian population with insulin-dependent diabetes mellitus. Osteoporosis Int 1998;8: 204-210.
27. Haussler MR, Whitfield GK, Haussler CA et al: The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 1998;13:325-349.
28. Herodot: ΙΣΤΟΠΙΗΣ ΑΠΟΛΕΞΙΣ - Die Bücher der Geschichte. 430 v. Chr.; Hrsg. W. Sontheimer, Reklam-Verlag Stuttgart, Buch III, Kapitel 12.
29. Hosoi T, Miyao M, Inoue S et al: Association study of parathyroid gene polymorphism and bone mineral density in Japanese postmenopausal women. Calcif Tissue Int 1999;64:205-208.
30. Houston LA, Grant SFA, Reid DM et al: Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: studies in a UK population. Bone 1996;18:249-252.
31. Keen RW, Woodford-Richens KL, Lanchbury JS et al: Allelic variation at the interleukin-1 receptor antagonist gene is associated with early postmenopausal bone loss at the spine. Bone 1998;23:367-371.
32. Kelly PJ, Eisman JA and Sambrook PN: Interaction of genetic and environmental influences on peak bone density. Osteoporosis Int 1990;1: 56-60.
33. Kelly PJ, Nguyen T, Hopper J et al: Changes in axial bone density with age: a twin study. J Bone Miner Res 1993;8(1):11-17.
34. Kobayashi S, Inoue S, Hosoi T et al: Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 1996;11(3):306-11.
35. Koller DL, Rodriguez LA, Christian JC et al: Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13. J Bone Miner Res 1998;13:1903-1908.
36. Krall EA, Dawson-Hughes B: Heritable and life-style determinants of bone mineral density. J Bone Miner Res 1993;8(1):1-9.
37. Krall EA, Parry P, Lichter JB et al: Vitamin D receptor alleles and rates of bone loss: influences of years since menopause and calcium intake. J Bone Miner Res 1995;10(6):978-84.
38. Langdahl BL, Ralston SH, Grant SF et al: An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 1998;13:1384-1389.
39. Liden M, Wilen B, Ljunghall S et al: Polymorphisms at the Sp1 binding site in the collagen type I alpha 1 gene does not predict bone mineral density in postmenopausal women in Sweden. Calcif Tissue Int 1998;63:293-295.
40. Malloy PJ, Hochberg Z, Tiosano D et al: The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. J Clin Invest 1990;86:2071-79.
41. Masi L, Becherini L, Colli E et al: Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women. Biochem Biophys Res Comm 1998,248:190-195.
42. McKay HA, Bailey DA, Wilkinson AA et al: Familial comparison of bone mineral density at the proximal femur and lumbar spine. Bone Miner 1994;24:95-107.
43. Melton LJ III, Atkinson EJ, O'Connor MK et al: Bone density and fracture risk in men. J Bone Miner Res 1998;13:1915-1923.
44. Miyao M, Hosoi T, Inoue S et al: Polymorphism of insulin-like growth factor gene I and bone mineral density. Calcif Tissue Int 1998;63:306-311.
45. Mizunuma H, Hosoi T, Okano H et al: Estrogen receptor gene Polymorphism and BMD at the lumbar spine of pre- and postmenopausal woman. Bone 1997,21:379-383.
46. Morrison NA, Yeoman R, Kelly PJ et al: Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphisms and circulating osteocalcin. Proc Natl Acad Sci USA 1992; 89:6665-69.
47. Morrison NA, Qi JC, Tokita A et al: Prediction of bone density from vitamin D receptor alleles. Nature 1994;367:284-287.
48. Nagaba Y, Heishi M, Tazawa H et al: Vitamin D receptor gene polymorphism affect secondary hyperparathyroidism in hemodialyzed patients. Am J Kidney Dis 1998;32:464-469.
49. Obermayer-Pietsch B, Frühauf G, Lackner C et al: VDR-polymorphisms are predictive for hyperthyroid bone disease. In Norman AW, Bouillon R, Thomasset M (eds): Riverside Vitamin D: Chemistry, biology and the clinical applications of the steroid hormone. University of California Press, 1997, pp 809-811.
50. Obermayer-Pietsch B, Lackner C, Frühauf G, Fahrleitner A, Leb G: Mutter-Tochter-Paare und genetische Aspekte der Osteoporose. J Mineralst 1997; Sonderheft 2:5-6.
51. Peacock M: Vitamin D receptor gene alleles and osteoporosis: a contrasting view. J Bone Miner Res 1995;10(9):1294-7.
52. Pocock NA, Eisman JA, Hopper JL et al: Genetic determinants of bone mass in adults. J Clin Invest 1987;80:706-10.
53. Ralston SH: Genetic markers of bone metabolism and bone disease. Scand J Clin Lab Invest 1997;57:114-121.
54. Riggs BL, Nguyen TV, Melton LJ III et al: The contribution of vitamin D receptor gene alleles to the determination of bone mineral density in normal and osteoporotic women. J Bone Miner Res 1995;10:991-996.
55. Rosen CJ, Kurland ES, Vereault D et al: 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. J Clin Endocrinol Metab 1998;83:2286-2290.
56. Sainz J, Van Tornout JM, Loro ML et al: Vitamin D-receptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent. New Engl J Med 1997;337(2):77-82.
57. Salamone LM, Ferrell R, Black DM et al: The association between vitamin D receptor gene polymorphism and bone mineral density at the spine, hip and whole-body in premenopausal women. Osteoporosis Int 1996;6(1): 63-8.
58. Sano M, Inoue S, Hosoi T et al: Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis. Biochem Biophys Res Commun 1995;217(1):378-83.
59. Seeman E, Hopper JL, Bach LA et al: Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 1989;320:554-58.
60. Smith DM, Nance WE, Kang KW et al: Genetic factors in determining bone mass. J Clin Invest 1973;52:2800-08.
61. Smith EP, Boyd J, Frank GR et al: Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 1994;331: 1056-1061.
62. Soroko SB, Barrett-Connor E, Edelstein SL et al: Family history of osteoporosis and bone mineral density at the axial skeleton: the Rancho Bernardo Study. J Bone Miner Res 1994;9(6):761-9.
63. Sowers MR, Boehnke M, Jannausch ML et al: Familiality and partitioning the variability of femoral bone mineral density in women of child-bearing age. Calcif Tiss Int 1992;50:110-14.
64. Spotila LD, Constantinou CD, Sereda L et al: Mutation in a gene for type I procollagen (COL 1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. Proc Natl Acad Sci USA 1991;88(12):5423-7.
65. Tsukamoto K, Emi M: A polymorphic CA repeat sequence at the human calcitonin locus. J Hum Genet 1998;43:146-147.
66. Uitterlinden AG, Burger H, Huang Q. et al: Relation of alleles of the collagen type IαI gene to bone density and the risk of osteoporotic fractures in postmenopausal woman. N Engl J Med 1998;338:1016-1021.
67. Viitanen A, Karkkainen M, Laitinen K et al: Common polymorphism of the vitamin D receptor gene is associated with variation of peak bone mass in young Finns. Calcif Tissue Int 1996;59:231-34.
68. Willing M, Sowers M, Aron D et al: Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J Bone Miner Res 1998;13:695-705.
69. Wishart JM, Horowitz M, Need AG et al: Relations between calcium intake, calcitriol, polymorphisms of the vitamin D receptor gene, and calcium absorption in premenopausal women. Am J Clin Nutr 1997;65:798-802.
70. Yamada Y, Miyauchi A, Goto J et al: Association of a polymorphism of transforming growth factor-betal gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women. J Bone Miner Res 1998;13: 1569-1576.