An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in both men and women

Journal of Bone and Mineral Research

Volumn 13, Issue 9, 1998, Pages 1384-1389

  Langdahl, Bente L ^a   Ralston, Stuart H ^b   Grant, Struan F A ^b   Eriksen, Erik F ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF ABERDEEN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMICAL MARKER; COLLAGEN TYPE 1;

ADULT; AGED; ARTICLE; BINDING SITE; BONE DENSITY; BONE TURNOVER; CASE CONTROL STUDY; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; FRACTURE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; OSTEOPOROSIS; POLYMERASE CHAIN REACTION; STATISTICAL ANALYSIS;

ADULT; AGED; AGED, 80 AND OVER; BIOLOGICAL MARKERS; BONE DENSITY; CASE-CONTROL STUDIES; COLLAGEN; DENMARK; FEMALE; HUMANS; MALE; MIDDLE AGED; OSTEOPOROSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; REGRESSION ANALYSIS; SEX FACTORS; SPINAL FRACTURES;

EID: 0031703736     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1998.13.9.1384     Document Type: Article

References (30)

1. Kelsey JL, Browner WS, Seeley DG, Nevitt MC, Cummings SR 1992 Risk factors for fractures of the distal forearm and proximal humerus. The study of osteoporotic fractures research group. Am J Epidemiol 135:477-489.
2. Seeley DG, Browner WS, Nevitt MC, Genant HK, Scott JC, Cummings SR 1991 Which fractures are associated with low appendicular bone mass in elderly women? The study of of osteoporotic fractures research group. Ann Intern Med 115: 837-842.
3. Kröger H, Huopio J, Honkanen R, Tuppurainen M, Puntila E, Alhava E, Saarikoski S 1995 Prediction of fracture risk using axial bone mineral density in a perimenopausal population: A prospective study. J Bone Miner Res 10:302-306.
4. Cummings SR, Black DM, Nevitt MC, Browner WS, Cauley JA, Genant HK, Mascioli SR, Scott JC, Seeley DG, Steiger P, Vogt TM 1990 Appendicular bone density and age predict hip fracture in women. JAMA 263:665-668.
5. Kanis JA, Melton JR III, Christiansen C, Johnston CC, Khaltaev N 1994 The diagnosis of osteoporosis. J Bone Miner Res 9:1137-1141.
6. Gueguen R, Jouanny P, Guillemin F, Kuntz C, Pourel J, Siest G 1995 Segregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res 12:2017-2022.
7. Kelly PJ, Nguyen T, Hopper J, Pocock N, Sambrook P, Eisman J 1993 Changes in axial bone density with age: A twin study. J Bone Miner Res 8:11-17.
8. Pocock NA, Eisman JA, Hopper JL, Yeates MG, Sambrook PN, Eberi S 1987 Genetic deteminants of bone mass in adults: A twin study. J Clin Invest 80:706-710.
9. Garnero P, Arden NK, Griffiths G, Delmas PD, Spector TD 1996 Genetic influence on bone turnover in postmenopausal twins. J Clin Endocrinol Metab 81:140-146.
10. Tokita A, Kelly PJ, Nguyen TV, Qi J-C, Morrison NA, Risteli L, Risteli J, Sambrook N, Eisman JA 1994 Genetic influences on type I collagen synthesis and degradation: Further evidence for genetic regulation of bone turnover. J Clin Endocrinol Metab 78:1461-1466.
11. Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA 1994 Prediction of bone density from vitamin D receptor alleles. Nature 367:284-287.
12. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H 1996 Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 11:306-311.
13. Langdahl BL, Knudsen JY, Jensen HK, Gregersen N, Eriksen EF 1997 A sequence variation: 713-8delC 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 bone turnover in both osteoporotic and normal women. Bone 20:289-294.
14. Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH 1996 Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene. Nat Genet 14:203-205.
15. Soroko SB, Barret-Connor E, Edelstein SL, Kritz-Silverstein D 1994 Family history of osteoporosis and bone mineral density at the axial skeleton: The Rancho Bernardo study. J Bone Miner Res 9:761-769.
16. Brixen K, Nielsen HK, Hermann AP, Kjeldsen S, Charles P, Mosckilde L 1995 Bone mineral measurements in normal Danish women and men. Calcif Tissue Int 56:489.
17. Risteli J, Niemi S, Elomaa T, Risteli L 1991 Bone resorption assay based on a peptide liberated during type I collagen degradation. J Bone Miner Res 6:S251.
18. Melkko J, Niemi S, Risteli L, Risteli J 1990 Radioimmunoassay for the carboxyterminal propetide of human type I procollagen. Clin Chem 36:1328-1332.
19. Kunkel LM, Smith KD, Boyer SH 1977 Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245-1249.
20. Keen RW, Woodford-Richens KL, Grant SFA, Lanchbury JS, Ralston SH, Spector TD 1997 Type I collagen gene polymorphism is associated with osteoporosis and fracture. J Bone Miner Res 12:S489.
21. Uitterlinden AG, Grant SFA, Huang Q, Burger H, vanLeeuwen JPTM, Pols HAP, Ralston SH 1996 Sp1 binding site polymorphism in the COLIA1 gene is associated with BMD: The Rotterdam study. Osteoporos Int 6:124.
22. Hustmyer FG, Liu G, Christian JC, Johnston CC, Peacock M 1997 Is the polymorphism at the Sp1 binding site in the COLIA1 gene associated with bone mineral density? J Bone Miner Res 12:S490.
23. Franols RM, Harrington F, Turner E, Paplha SS, Datta HK 1997 Vitamin D receptor gene polymorphism in men and its effect on bone density and calcium absorption. Clin Endocrinol Oxf 46:83-86.
24. Sowers MR, Boehnke M, Jannausch ML, Crutchfield M, Corton G, Burns TL 1992 Familiality and partitioning the variability of femoral bone mineral density in women of child-bearing age. Calcif Tissue Int 50:110-114.
25. deVernejoul M-C, Haguenauer D, Cohen-Solal ME, Beaudreuil J 1997 Polymorphism of collagen I and vertebral osteoporosis: No association. J Bone Miner Res 12:S490.
26. Garnero P, Borel O, Grant SFA, Ralston SH, Delmas PD 1997 Sp1 binding site polymorphism in the collagen type Iα1 gene, peak bone mass, postmenopausal bone loss, and bone turnover: The Ofely Study. J Bone Miner Res 12 (Suppl):490.
27. McLennan AR, Jagger C, Spooner R, Sutcliffe R, Harrison J, Shapiro D 1997 Are COLIA1 Sp1 polymorphisms important determinants of bone mineral density and osteoporosis in postmenopausal women in the UK? J Bone Miner Res 12:S119.
28. Grant SFA 1996 Ph.D. thesis. Studies on the genetic susceptibility to osteoporosis: Analysis of cis-acting sequences in the collagen type Ia1 gene. University of Aberdeen, Aberdeen, Australia.
29. Eriksen EF, Hodgson SF, Eastell R, Cedel SL, O'Fallon WM, Riggs BL 1990 Cancellous bone remodeling in type I (postmenopausal) osteoporosis: Quantitative assessment of rates of formation, resorption, and bone loss at tissue and cellular levels. J Bone Miner Res 5:311-319.
30. Uitterlinden AG, Burger H, Huang Q, Grant SFA, Hofman A, Ralston SH, vanLeeuwen JPTM, Pols HAP 1997 Collagen Iα1 Sp1 polymorphism predicts bone mass, bone loss and vertebral fracture. J Bone Miner Res 12 (Suppl):119.