Susceptibility to osteoporotic fracture is determined by allelic variation at the sp1 site, rather than other polymorphic sites at the COL1A1 locus

Osteoporosis International

Volumn 11, Issue 4, 2000, Pages 338-343

  McGuigan, F E A ^a   Reid, D M ^a   Ralston, S H ^a  

^a UNIVERSITY OF ABERDEEN   (United Kingdom)

Author keywords

COL1A1; Collagen; Fracture; Genetic; Osteoporosis; Polymorphism

Indexed keywords

COLLAGEN TYPE 1;

AGED; ARTICLE; BINDING SITE; CONTROLLED STUDY; DISEASE PREDISPOSITION; EXON; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; OSTEOPOROSIS; PRIORITY JOURNAL; REGRESSION ANALYSIS; VERTEBRA FRACTURE;

AGED; BONE DENSITY; COLLAGEN; DENSITOMETRY, X-RAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; OSTEOPOROSIS, POSTMENOPAUSAL; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SPINAL FRACTURES;

EID: 0034043309     PISSN: 0937941X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001980070123     Document Type: Article

References (28)

1. Ralston SH. The genetics of osteoporosis. Q J Med 1997;90:247-51.
2. Smith DM, Nance WE, Kang KW, Christian JC, Johnston CC: Genetic factors in determining bone mass. J Clin Invest 1973;52:2800-8.
3. Christian JC, Yu PL, Slemenda CW, Johnston CC. Heritability of bone mass: a longitudinal study in ageing male twins. Am J Hum Genet 1989;44:429-33.
4. Pocock NA, Eisman JA, Hopper JL, Yeates MG, Sambrook PN, Eberl S. Genetic determinants of bone mass in adults: a twin study. J Clin Invest 1987;80:706-10.
5. Kelly PJ, Nguyen T, Hopper J, Pocock N, Sambrook P, Eisman J. Changes in axial bone density with age: a twin study. J Bone Miner Res 1993;8:11-7.
6. Garnero P, Arden NK, Griffiths G, Delmas PD, Spector TD. Genetic influence on bone turnover in postmenopausal twins. J Clin Endocrinol Metab 1996;81:140-6.
7. Arden NK, Baker J, Hogg C, Baan K, Spector TD. The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: a study of postmenopausal twins. J Bone Miner Res 1996;11:530-4.
8. Cummings SR, Nevitt MC, Browner WS, et al. Risk factors for hip fracture in white women. Study of Osteoporotic Fractures Research Group. N Engl J Med 1995;332:767-73.
9. Torgerson DJ, Campbell MK, Thomas RE, Reid DM. Prediction of perimenopausal fractures by bone mineral density and other risk factors. J Bone Miner Res 1996;11:293-7.
10. Devoto M, Shimoya K, Caminis J, et al. First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Euro J Hum Genet 1998;6:151-7.
11. Johnson ML, Gong G, Kimberling W, Recker S, Kimmel DB, Recker RR. Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am J Hum Genet 1997;60:1326-2.
12. Gueguen R, Jouanny P, Guillemin F, Kuntz C, Pourel J, Siest G. Segregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res 1995;12:2017-22.
13. Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 site in the collagen type 1 alpha 1 gene. Nature Genet 1996;14:203-5.
14. Keen RW, Woodford-Richens KL, Grant SFA, Ralston SH, Lanchbury JS, Spector TD. Polymorphism at the type I collagen (COLIA1) locus is associated with reduced bone mineral density, increased fracture risk and increased collagen turnover. Arthritis Rheum 1999;42:285-90.
15. Uitterlinden AG, Burger H, Huang Q, et al. Relation of alleles of the collagen type I α 1 gene to bone density and risk of osteoporotic fractures in postmenopausal women. N Engl J Med 1998;338:1016-22.
16. Langdahl BL, Ralston SH, Grant SFA, Eriksen EF. An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in men and women. J Bone Miner Res 1998;13:1384-9.
17. Lander ES, Schork NJ. Genetic dissection of complex traits. Science 1994; 265: 2037-2048.
18. Sowers M, Willing M, Burns T, et al. Genetic markers, bone mineral density and serum osteocalcin levels. J Bone Miner Res 1999;14:1411-9.
19. 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.
20. Vandevyer C, Stinissen P, Michiels L, Guesens P. Type I collagen gene polymorphisms are associated with susceptibility for fractures in elderly women [abstract]. Osteoporos Int 1998;8 (Suppl):S7.
21. Baker R, Lynch J, Ferguson L, Sykes B. PCR detection of five restriction site dimorphisms at the collagen loci COLlAI and COL1A2. Nucleic Acids Res 1992;19:4315.
22. McCloskey EV, Spector TD, Eyres KS, et al. The assessment of vertebral deformity: a method for use in population studies and clinical trials. Osteoporos Int 1993;3:138-47.
23. Terwilliger JD, Ott J. Linkage disequilibrium between alleles at marker loci. In: handbook of human genetic linkage. Baltimore: Johns Hopkins University Press, 1994;188-210.
24. Roux C, Dougados M, Abel L, Mercier G, Lucotte G. Association of a polymorphism in the collagen 1 α 1 gene with osteoporosis in French women. Arthritis Rheum 1998;41:187-8.
25. Liden M, Wilen B, Ljunghall S, Melhus H. Polymorphism at the Sp 1 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;63:293-5.
26. Hustmyer FG, Lui G, Johnston CC, Christian J, Peacock M. Polymorphism at an Sp1 binding site of COLIA1 and bone mineral density in pre-menopausul female twins and elderly fracture patients. Osteoporos Int 1999;9:346-50.
27. Garnero P, Borel O, Grant SFA, Ralston SH, Delmas PD. Collagen I a 1 polymorphism, bone mass and bone turnover in healthy trench pre-menopausal women: the OFELY study. J Bone Miner Res 1998;13:813-18.
28. Dean V, Smith FG, Robins SP, Ralston SH. Relationship between COL1A1 Sp1 alleles, gene transcription, collagen production and bone strength [abstract]. Bone 1998;23:s160.