Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture

Bone

Volumn 32, Issue 6, 2003, Pages 711-717

  Mann, V ^a,b   Ralston, S H ^a  

^a UNIVERSITY OF ABERDEEN   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PREGNANCY SPECIFIC BETA1 GLYCOPROTEIN; PROTEIN; PROTEIN COL1A1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; BINDING SITE; BONE DENSITY; BONE MINERAL; CHILD; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DATA ANALYSIS; DISEASE ASSOCIATION; FEMALE; FEMUR NECK; FRAGILITY FRACTURE; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOTE; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; MALE; META ANALYSIS; MODEL; VERTEBRA FRACTURE;

EID: 0142124733     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/S8756-3282(03)00087-5     Document Type: Article

References (46)

1. Stewart T.L., Ralston S.H. Role of genetic factors in the pathogenesis of osteoporosis. J Endocrinol. 166:(2):2000;235-245.
2. Morrison N.A., Qi J.C., Tokita A., et al. Prediction of bone density from vitamin D receptor alleles (Erratum). Nature. 387:1997;106.
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. 11:1996;306-311.
4. Grant S.F.A., Reid D.M., Blake G., Herd R., Fogelman I., Ralston S.H. Reduced bone density and osteoporosis associated with a polymorphic Sp1 site in the collagen type I alpha 1 gene. Nat Genet. 14:1996;203-205.
5. Langdahl B.L., Knudsen J.Y., Jensen H.K., Gregersen N., Eriksen E.F. 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. 20:(3):1997;289-294.
6. Cooper G.S., Umbach D.M. Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J Bone Miner Res. 11:1996;1841-1849.
7. Rubin L.A., Hawker G.A., Peltekova V.D., Fielding L.J., Ridout R., Cole D.E. Determinants of peak bone mass clinical and genetic analyses in a young female Canadian cohort . J Bone Miner Res. 14:(4):1999;633-643.
8. Mann V., Hobson E.E., Li B., et al. A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest. 107:(7):2001;899-907.
9. Qureshi A.M., McGuigan F.E., Seymour D.G., Hutchison J.D., Reid D.M., Ralston S.H. Association between COLIA1 Sp1 alleles and femoral neck geometry. Calcif Tissue Int. 69:(2):2001;67-72.
10. Qureshi A.M., Herd R.J., Blake G.M., Fogelman I., Ralston S.H. COLIA1 Sp1 polymorphism predicts response of femoral neck bone density to cyclical etidronate therapy. Calcif Tissue Int. 70:(3):2002;158-163.
11. Beavan S., Prentice A., Dibba B., Yan L., Cooper C., Ralston S.H. Polymorphism of the collagen type I alpha 1 gene and ethnic differences in hip-fracture rates. N Engl J Med. 339:1998;351-352.
12. Nakajima T., Ota N., Shirai Y., et al. Ethnic difference in contribution of Sp1 site variation of COL1A1 gene in genetic predisposition to osteoporosis. Calcif Tissue Int. 65:(5):1999;352-353.
13. Lim S.-K., Li S.Z., Won Y.J., Shin W.-Y., Lee H.C., Huh K.B. Lack of association between a polymorphic Sp1 binding site in collagen type 1 alpha 1 gene and osteoporosis in Korean women. J Bone Miner Res. 12:(Suppl):1997;S491. [Abstract].
14. Egger M., Davey S.G., Schneider M., Minder C. Bias in meta-analysis detected by a simple, graphical test. Br Med J. 315:(7109):1997;629-634. [see comments].
15. Aerssens J., Dequeker J., Peeters J., Breemans S., Broos P., Boonen S. Polymorphisms of the VDR, ER and COL1A1 genes and osteoporotic hip fracture in elderly postmenopausal women. Osteoporos Int. 11:(7):2000;583-591.
16. Langdahl B.L., Ralston S.H., Grant S.F.A., Eriksen E.F. An Sp1 binding site polymorphism in the COL1A1 gene predicts osteoporotic fractures in men and women. J Bone Miner Res. 13:1998;1384-1389.
17. McGuigan F.E.A., Reid D.M., Ralston S.H. 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:(4):2000;338-343.
18. Efstathiadou Z., Tsatsoulis A., Ioannidis J.P. Association of collagen I alpha 1 Sp1 polymorphism with the risk of prevalent fractures a meta-analysis . J Bone Miner Res. 16:(9):2001;1586-1592.
19. Cummings S.R., Nevitt M.C., Browner W.S., et al. Risk factors for hip fracture in white women. Study of Osteoporotic Fractures Research Group. N Engl J Med. 332:(12):1995;767-773.
20. Dargent-Molina P., Favier F., Grandjean H., et al. Fall-related factors and risk of hip fracture the EPIDOS prospective study. Epidemiologie de l'osteoporose . Lancet. 348:(9021):1996;145-149.
21. Uitterlinden A.G., 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. 338:1998;1016-1022.
22. Harris S.S., Patel M.S., Cole D.E., Dawson-Hughes B. Associations of the collagen type I alpha1 Sp1 polymorphism with five-year rates of bone loss in older adults. Calcif Tissue Int. 66:(4):2000;268-271.
23. MacDonald H.M., McGuigan F.A., New S.A., et al. COLlA1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss. J Bone Miner Res. 16:(9):2001;1634-1641.
24. Heegaard A., Jorgensen H.L., Vestergaard A.W., Hassager C., Ralston S.H. Lack of influence of collagen type I alpha1 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:(6):2000;409-413.
25. Keen R.W., Woodford-Richens K.L., Grant S.F.A., Ralston S.H., Lanchbury J.S., Spector T.D. Polymorphism at the type I collagen (COL1A1) locus is associated with reduced bone mineral density, increased fracture risk and increased collagen turnover. Arthritis Rheum. 42:1999;285-290.
26. McGuigan F.E., Armbrecht G., Smith R., Felsenberg D., Reid D.M., Ralston S.H. Prediction of osteoporotic fractures by bone densitometry and COL1A1 genotyping a prospective, population-based study in men and women . Osteoporos Int. 12:(2):2001;91-96.
27. Marshall D., Johnell O., Wedel H. Meta-analysis of how well measures of bone mineral density predict occurrence of osteoporotic fractures. Br Med J. 312:(7041):1996;1254-1259.
28. Lunt M., Felsenberg D., Reeve J., et al. Bone density variation and its effects on risk of vertebral deformity in men and women studied in thirteen European centers the EVOS study . J Bone Miner Res. 12:(11):1997;1883-1894.
29. Ioannidis J.P., Ntzani E.E., Trikalinos T.A., Contopoulos-Ioannidis D.G. Replication validity of genetic association studies. Nat Genet. 29:(3):2001;306-309.
30. Ashford R.U., Luchetti M., McCloskey E.V., et al. Studies of bone density, quantitative ultrasound, and vertebral fractures in relation to collagen type I alpha I alleles in elderly women. Calcif Tissue Int. 68:(6):2001;348-351.
31. Alvarez L., Oriola J., Jo J., et al. Collagen type I alpha1 gene Sp1 polymorphism in premenopausal women with primary osteoporosis improved detection of Sp1 binding site polymorphism in the collagen type 1 gene . Clin Chem. 45:(6 Pt 1):1999;904-906.
32. Berg J.P., Lehmann E.H., Stakkestad J.A., Haug E., Halse J. The Sp1 binding site polymorphism in the collagen type I alpha 1 (COL1A1) gene is not associated with bone mineral density in healthy children, adolescents, and young adults. Eur J Endocrinol. 143:(2):2000;261-265.
33. Braga V., Mottes M., Mirandola S., et al. Association of CTR and COL1A1 alleles with BMD values in peri- and postmenopausal women. Calcif Tissue Int. 67:(5):2000;361-366.
34. Efstathiadou Z., Kranas V., Ioannidis J.P., Georgiou I., Tsatsoulis A. The Sp1 COL1A1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women. Osteoporos Int. 12:(4):2001;326-331.
35. Garnero P., Borel O., Grant S.F.A., Ralston S.H., Delmas P.D. Collagen I α 1 polymorphism, bone mass and bone turnover in healthy French pre-menopausal women the OFELY study . J Bone Miner Res. 13:(5):1998;813-818.
36. Hampson G., Evans C., Petitt R.J., et al. Bone mineral density, collagen type 1 alpha 1 genotypes and bone turnover in premenopausal women with diabetes mellitus. Diabetologia. 41:(11):1998;1314-1320.
37. Hustmyer F.G., Lui G., Johnston C.C., Christian J., Peacock M. Polymorphism at an Sp1 binding site of COL1A1 and bone mineral density in pre-menopausal female twins and elderly fracture patients. Osteoporosis Int. 9:1999;346-350.
38. Liden M., Wilen B., Ljunghall S., Melhus H. 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 Tiss Int. 63:(4):1998;293-295.
39. Peris P., Alvarez L., Oriola J., et al. Collagen type I alpha1 gene polymorphism in idiopathic osteoporosis in men. Rheumatology (Oxford). 39:(11):2000;1222-1225.
40. Roux C., Dougados M., Abel L., Mercier G., Lucotte G. Association of a polymorphism in the collagen I α 1 gene with osteoporosis in French women. Arthritis Rheum. 41:1998;187-188.
41. Sainz J., Van Tornout J.M., Sayre J., Kaufman F., Gilsanz V. Association of collagen type 1 alpha 1 gene polymorphism with bone density in early childhood. J Clin Endocrinol Metab. 84:(3):1999;853-855.
42. Sowers M., Willing M., Burns T., et al. Genetic markers, bone mineral density and serum osteocalcin levels. J Bone Miner Res. 14:(8):1999;1411-1419.
43. Tao C., Garnett S., Petrauskas V., Cowell C.T. No association was found between collagen alpha type 1 gene and bone density in prepubertal children. J Clin Endocrinol Metab. 84:(11):1999;4293-4294. [letter].
44. Valimaki S., Tahtela R., Kainulainen K., et al. Relation of collagen type I alpha 1 (COL1A 1) and vitamin D receptor genotypes to bone mass, turnover, and fractures in early postmenopausal women and to hip fractures in elderly people. Eur J Intern Med. 12:(1):2001;48-56.
45. Van Pottelbergh I., Goemaere S., Nuytinck L., De Paepe A., Kaufman J.M. Association of the type I collagen alpha 1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men. Osteoporos Int. 12:(10):2001;895-901.
46. Weichetova M., Stepan J.J., Michalska D., Haas T., Pols H.A., Uitterlinden A.G. OL1A1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures. Bone. 26:(3):2000;287-290.