Association of the Collagen Type 1 (COL1A 1) Sp1 Binding Site Polymorphism to Femoral Neck Bone Mineral Density and Wrist Fracture in 1044 Elderly Swedish Women

Calcified Tissue International

Volumn 74, Issue 3, 2004, Pages 264-269

  Gerdhem, P ^a   Brandstrom H ^b   Stiger, F ^b   Obrant, K ^a   Melhus, H ^b   Ljunggren, O ^b   Kindmark, A ^b   Akkesson K ^a  

^a LUND UNIVERSITY   (Sweden)

^b Department of Medical Sciences ^*  (Sweden)

Author keywords

Bone mineral density; Collagen; Fracture; Genotype; Ultrasound

Indexed keywords

COLLAGEN TYPE 1; GENE PRODUCT; TRANSCRIPTION FACTOR SP1;

AGED; AGING; ALLELISM; BONE DENSITY; BONE MASS; BONE MINERAL; CALCANEUS; COL1A1 GENE; CONFERENCE PAPER; DISEASE ASSOCIATION; FEMALE; FRAGILITY FRACTURE; GENE; GENETIC POLYMORPHISM; GENOTYPE; HEEL; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MENOPAUSE; OSTEOPOROSIS; PATHOGENESIS; PRIORITY JOURNAL; RISK ASSESSMENT; SWEDEN; ULTRASOUND; WRIST FRACTURE;

AGED; BINDING SITES; BONE DENSITY; CALCANEUS; COLLAGEN TYPE I; DNA; FEMALE; FEMUR NECK; FRACTURES, BONE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; POLYMORPHISM, GENETIC; RANDOM ALLOCATION; SP1 TRANSCRIPTION FACTOR; WRIST INJURIES;

EID: 1542720317     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-002-2159-2     Document Type: Conference Paper

References (24)

1. Byers PH, Steiner RD (1992) Osteogenesis imperfecta. Annu Rev Med 43:269-282
2. Mann V, Hobson EE, Baohua L, Stewart TL, Grant SFA, Robins SP, Aspden RM, Ralston SH (2001) A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 107:899-907
3. McGuigan FE, Reid DM, Ralston SH (2000) Susceptibility to osteoporotic fracture is determined by allelic variation at the Sp1 site, rather than other polymorphic sites at the COL1A1 locus. Osteoporosis Int 11:338-343
4. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralson SH (1996) Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 14(2):203-205
5. Bornstein PJ, McKay, Morishima JK, Devarayalu S, Gelinas RE (1987) Regulatory elements in the first intron contribute to transcriptional control of the human alpha 1(I) collagen gene. Proc Natl Acad Sci USA 84(24):8869-8873
6. Garnero P, Borel O, Grant SF, Ralston SH, Delmas PD (1998) Collagen I alfa 1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: the OFELY study. J Bone Miner Res 13:813-817
7. Uitterlinden AG, Burger H, Huang Q, Yue F, McGuigan FE, Grant SF, Hofman A, van Leeuwen JP, Pols HA, Ralson SH (1998) Relation of alleles of the collagen type I alfa 1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338:1016-1021
8. Keen RW, Woodford-Richens KL, Grant SF, Ralston SH, Lanchbury JS, Spector T (1999) Association polymorphisms at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. Arthritis Rheum 42:285-290
9. Ashford RU, Luchetti M, McClosky EV, Gray RL, Pande KC, Dey A, Kayan K, Ralston SH, Kanis JA (2001) Studies on bone density, quantitative ultrasound, and vertebral fractures in relation to collagen type I alfa 1 alleles in elderly women. Calcif Tissue Int 68:348-351
10. Heegaard A, Jorgensen HL, Vestergaard AW, Hassager C, Ralston SH (2000) Lack of influence of collagen type Iα1 Sp1 binding site polymorphism on the rate of bone loss in a cohort of postmenopausal Danish women followed for 18 years. Calcif Tissue Int 66:409-413
11. Hustmyer FG, Liu G, Johnston CC, Christian J, Peacock M (1999) Polymorphism at an Sp1 binding site of COL1A1 and bone mineral density in premenopausal female twins and elderly fracture patients. Osteoporos hit 9:346-350
12. Karlsson M, Johnell O, Obrant KJ (1995) Is bone mineral density advantage maintained long-term in previous weight lifters? Calcif Tissue Int 57:325-328
13. Karlsson MK, Obrant KJ, Nilsson BE, Johnell O (2000) Changes in bone mineral, lean body mass and fat content as measured by dual energy X-ray absorptiometry: a longitudinal study. Calcif Tissue Int 66:97-109
14. Karlsson MK, Obrant KJ, Nilsson BE, Johnell O (1998) Bone mineral density assessed by quantitative ultrasound and dual energy X-ray absorptiometry. Acta Orthop Scand 69:189-193
15. Langdahl BL, Ralston SH, Grant SFA, Eriksen EF (1998) An Sp1 binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 13:1384-1389
16. MacDonald HM, McGuigan FA, New SA, Campbell MK, Golden MHN, Ralston SH, Reid DM (2001) COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss. J Bone Miner Res 16:1634-1641
17. Harris SS, Patel MS, Cole DE, Dawson-Hughes B (2000) Associations of the collagen type Iα1 Sp1 polymorphism with five-year rates of bone loss in older adults. Calcif Tissue Int 66:268-271
18. Sowers M, Willing M, Burns T, Deschenes S, Hollis B, Crutchfield M, Jannausch M (1999) Genetic markers, bone mineral density, and serum osteocalcin levels. J Bone Miner Res 14:1411-1419
19. Uitterlinden AG, Weel AEAM, Burger H, Fang Y, van Duijn CM, Hofman A, van Leeuwen JPTM, Pols HAP (2001) Interaction between the vitamin D receptor gene and collagen type Iα1 gene in susceptibility for fracture. J Bone Miner Res 16:379-385
20. Brown MA, Haughton MA, Grant SFA, Gunnell AS, Henderson NK, Eisman JA (2001) Genetic control of bone density and turnover: role of the collagen Iα1, estrogen receptor, and vitamin D receptor genes. J Bone Miner Res 16:758-764
21. Liden M, Wilen B, Ljunghall S, Melhus H (1998) Polymorphism 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 63(4):293-295
22. Efstathiadou Z, Tsatsoulis A, Ioannidis JPA (2001) Association of collagen Iα1 Sp1 polymorphism with the risk of prevalent fractures: a meta-analysis. J Bone Miner Res 16:1586-1592
23. Valimäki S, Tahtela R, Kainulainen K, Laitinen K, Loyttyniemi E, Sulkava R, Valimäki M, Kontula K (2001) Relation of collagen type Iα1 (COLIA1) and vitamin D receptor genotypes to bone mass, turnover, and fractures in early postmenopausal women and to hip fractures in elderly people. Eur J Int Med 12:48-56
24. Weichetova M, Stepan JJ, Michalska D, Haas T, Pols HA, Uitterlinden AG (2000) COLIA1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures. Bone 26:287-290