Collagen type 1 (COL1A1) Sp1 binding site polymorphisms is associated with osteoporotic fractures but not with bone density in post-menopausal women from the Canary Islands: A preliminary study

Aging Clinical and Experimental Research

Volumn 19, Issue 1, 2007, Pages 4-9

  Navarro, Mary C ^a   Sosa, Manuel ^a   Del Pino Montes, Javier ^b   Torres, Armando ^c   Salido, Eduardo ^c   Saavedra, Pedro ^a   Corral Gudino, Luis ^b   Montilla, Carlos A ^b  

^a UNIVERSITY OF LAS PALMAS DE GRAN CANARIA   (Spain)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c UNIVERSIDAD DE LA LAGUNA   (Spain)

Author keywords

Bone density; Canary Islands; Collagen; Fracture; Genotype; Osteoporosis

Indexed keywords

ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; ALKALINE PHOSPHATASE; CALCITONIN; CALCIUM; COLLAGEN TYPE 1; CREATININE; OSTEOCALCIN; PHOSPHATE; PROTEIN; TRANSCRIPTION FACTOR SP1;

ADULT; AGED; ALKALINE PHOSPHATASE BLOOD LEVEL; ALLELE; ARTICLE; BINDING SITE; BONE DENSITY; CALCITONIN BLOOD LEVEL; CALCIUM BLOOD LEVEL; CAUCASIAN; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DUAL ENERGY X RAY ABSORPTIOMETRY; FEMALE; FRAGILITY FRACTURE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HIP; HOMOZYGOTE; HORMONE SUBSTITUTION; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; MEDICAL RECORD; PHOSPHATE BLOOD LEVEL; POLYMERASE CHAIN REACTION; POSTMENOPAUSE; PROTEIN BLOOD LEVEL; QUANTITATIVE ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SELF REPORT; SPAIN; SPINE RADIOGRAPHY; VERTEBRA FRACTURE;

EID: 34047222736     PISSN: 15940667     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03325204     Document Type: Article

References (30)

1. Riggs BL. Vitamin D-receptor genotypes and bone density. New Engl J Med 1997; 337: 125-6.
2. Morrison NA, Qi JC, Tokita A, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994; 367: 284-7
3. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H. Association of bone mineral density with polymorphisms of the estrogen receptor gene in post-menopausal women. J Bone Miner Res 1996; 11: 306-11.
4. 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 I alpha 1 gene. Nat Genet 1996; 14: 203-5.
5. Langdahl BL, Knudsen JY, Jensen HK, Gregersen N, Eriksen EF. A sequence variation: 713-8delC in the transforming growth factor-beta 1 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 1997; 20: 289-94.
6. Gamero P, Borel O, Grant SF, Ralston SH, Delmas PD. Collagen I alfa 1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: the OFELY study. J Bone Miner Res 1998; 13: 813-7.
7. Uitterlinden AG, Burger H, Huang Q, et al. 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 1998; 338: 1016-21.
8. Keen RW, Woodford-Richens KL, Grant SF, Ralston SH, Lanchbury JS, Spector T. Association polymorphisms at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. Arthritis Rheum 1999; 42: 285-90.
9. Ashford RU, Luchetti M, McClosky EV, et al. Studies on bone density, quantitative ultrasound, and vertebral fractures in relation to collagen type I alfa 1 alleles in elderly women. Calcif Tissue Int 2001; 68: 348-51.
10. Heegaard A, Jorgensen HL, Vestergaard AW, Hassager C, Ralston SH. Lack of influence of collagen type I α1 Sp1 binding site polymorphism on the rate of bone loss in a cohort of post-menopausal Danish women followed for 18 years. Calcif Tissue Int 2000; 66: 409-13.
11. Hustmyer FG, Liu G, Johnston CC, Christian J, Peacock M. Polymorphism at an Sp1 binding site of COL1A1 and bone mineral density in premenopausal female twins and elderly fracture patients. Osteoporos Int 1999; 9: 346-50.
12. Mann V, Ralston SH. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone 2003; 32: 711-7.
13. Pluijm SM, van Essen HW, Bravenboer N, et al. Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women. Ann Rheum Dis 2004 63: 71-7.
14. Alvarez-Hemandez D, Naves M, Diaz-Lopez JB, Gomez C, Santamaria I, Cannata-Andia JB. Influence of polymorphisms in VDR and COLIA1 genes on the risk of osteoporotic fractures in aged men. Kidney Int 2003; 85 (Supp 1): S14-8.
15. Gerdhem P, Brandstrom H, Stiger F, et al., 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. Calcif Tissue Int 2004; 74: 264-9.
16. Bernard M, Martinez ME, Escalona M, et al. Polymorphism in the type I collagen (COLIA1) gene and risk of fractures in post-menopausal women. Bone 2002; 30: 223-8.
17. Mann V, Hobson EE, Baohua L, et al. COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 2001; 107: 899-907.
18. Mezquita-Raya P, Munoz-Torres M, de Dios Luna J, et al. Performance of COLIA1 polymorphism and bone turnover markers to identify postmenopausal women with prevalent vertebral fractures. Osteoporos Int 2002; 13: 506-12.
19. Braga V, Sangalli A, Malerba G, et al. Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men. Calcif Tissue Int 2002; 70: 457-62.
20. Valimaki S, Tahtela R, Kainulainen K, et al. Relation of collagen type I alpha 1 (COLIA 1) and vitamin D receptor genotypes to bone mass, turnover, and fractures in early postmenopausal women and to hip fractures in elderly people. Europ J Intern Med 2001; 12: 48-56.
21. O'Neill TW, Cooper C, Cannata JB, et al, on behalf of the European Vertebral Osteoporosis Study Group (EVOS). Reproducibility of a questionnaire on risk factors for osteoporosis in a multicentre prevalence survey: the European Vertebral Osteoporosis Study. Int J Epidemiol 1994; 23: 559-65.
22. McGuigan FEA, Armbrecht G, Smith R, Felsenbeyg RD, Reid DM, Ralston SH. Prediction of osteoporotic fractures by bone densitometry and COL1A1 genotyping: a prospective, population-based study in men and women. Osteoporos Int 2001; 12: 91-6.
23. Lei SF, Deng FY, Liu XH, et al. Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity. J Bone Miner Metab 2003; 21: 34-42.
24. Wynne F, Drummond F, O'Sullivan K, et al. Investigation of the genetic influence of the OPG, VDR (Fok1), and COLIA1 Sp1 polymorphisms on BMD in the Irish population. Calcif Tissue Int 2002; 71: 26-35.
25. McDonald HM, McGuigan FA, New SA, et al. COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss. J Bone Miner Res 2001; 16: 1634-41.
26. Braga V, Mottes M, Mirandola S, et al. Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women. Calcif Tissue Int 2000; 67: 361-6.
27. Efstathiadou Z, Kranas V, Ioannidis JP, Georgiou I, Tsatsoulis A. The Sp1 COLIA1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women. Osteoporos Int 2001; 12: 326-31.
28. Sapir-Koren R, Livshits G, Kobyliansky E. Genetic effects of estrogen receptor alpha and collagen I A1 genes on the relationships of parathyroid hormone and 25 hydroxyvitamin D with bone mineral density in Caucasian women. Metabolism 2003; 52: 1129-35.
29. Genant HK, Lang TF, Engelke K, et al. Advances in the noninvasive assessment of bone density, quality, and structure. Calcif Tissue Int 1996; 59 (Suppl 1): S10-5.
30. Kann P, Bergink AP, Fang Y, et al. The collagen Ia1 SP1 polymorphism is associated with differences in ultrasound transmission velocity in the calcaneus in postmenopausal women. Calcif Tissue Int 2002; 70: 450-6.