Association between bone mineral density and polymorphisms of the VDR, ERα, COL1A1 and CTR genes in Spanish postmenopausal women

Journal of Endocrinological Investigation

Volumn 28, Issue 6, 2005, Pages 312-321

  Bandres E ^a   Pombo, I ^a   Gonzalez Huarriz M ^a   Rebollo, A ^a   Lopez G ^a   Garcia Foncillas J ^a  

^a UNIVERSITY CLINIC OF NAVARRA   (Spain)

Author keywords

Bone mineral density; Calcitonin receptor; COL1A1; Estrogen receptor; Osteoporosis; Vitamin D receptor

Indexed keywords

CALCITONIN RECEPTOR; CALCIUM; COLLAGEN TYPE 1; ESTROGEN RECEPTOR ALPHA; ORAL CONTRACEPTIVE AGENT; VITAMIN D RECEPTOR; CALCITRIOL RECEPTOR; COLLAGEN TYPE I, ALPHA 1 CHAIN;

ADULT; AGED; ARTICLE; BODY HEIGHT; BODY WEIGHT; BONE DENSITY; CALCIUM INTAKE; CONTROLLED STUDY; DNA POLYMORPHISM; EXERCISE; FEMALE; FEMUR NECK; FRACTURE; GENOTYPE; GROUPS BY AGE; HORMONE SUBSTITUTION; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; POSTMENOPAUSE; SPAIN; STATISTICAL ANALYSIS; TOBACCO; COHORT ANALYSIS; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; OSTEOPOROSIS;

ADULT; AGED; BONE DENSITY; COHORT STUDIES; COLLAGEN TYPE I; ESTROGEN RECEPTOR ALPHA; FEMALE; GENOTYPE; HUMANS; MIDDLE AGED; OSTEOPOROSIS; POLYMORPHISM, GENETIC; POSTMENOPAUSE; RECEPTORS, CALCITONIN; RECEPTORS, CALCITRIOL; SPAIN;

EID: 23444444026     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03347196     Document Type: Article

References (41)

1. 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.
2. Seeman E, Hopper JL, Bach LA, et al. Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 1989, 320: 554-8.
3. Spector TD, Keen RW, Arden NK, et al. Influence of vitamin D receptor genotype on bone mineral density in postmenopausal women: a twin study in Britain. BMJ 1995, 310: 1357-60.
4. Morrison NA, Qi JC, Tokita A, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994, 367: 284-7.
5. Beavan S, Prentice A, Dibba B, Van L, Cooper C, Ralston SH. Polymorphism of the collagen type I alpha1 gene and ethnic differences in hip-fracture rates. N Engl J Med 1998, 339: 351-2.
6. Byers PH, Steiner RD. Osteogenesis imperfecta. Annu Rev Med 1992, 43: 269-82.
7. Deng HW, Li J, Li JL, Johnson M, Gong G, Recker RR. Association of VDR and estrogen receptor genotypes with bone mass in postmenopausal Caucasian women: different conclusions with different analyses and the implications. Osteoporos Int 1999, 9: 499-507.
8. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 1996, 14: 203-5.
9. Uitterlinden AG, Burger H, Huang Q, et al. Relation of alleles of the collagen type I alpha 1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 1998, 338: 1016-21.
10. 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.
11. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H. Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 1996, 11: 306-11.
12. Mizunuma H, Hosoi T, Okano H, et al. Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre-and postmenopausal women. Bone 1997, 21: 379-83.
13. 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.
14. Gennari L, Becherini L, Masi L, et al. Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density. J Clin Endocrinol Metab 1998, 83: 939-44.
15. Masi L, Becherini L, Colli E, et al. Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women. Biochem Biophys Res Commun 1998, 248: 190-5.
16. Stewart A, Black AJ. Bone mineral density in osteoarthritis. Curr Opin Rheumatol 2000, 12: 464-7.
17. Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH. Non-uniform recombination within the human beta-globin gene cluster. Am J Hum Genet 1984, 36: 1239-58.
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. Bagger YZ, Jorgensen HL, Heegaard AM, Bayer L, Hansen L, Hassager C. No major effect of estrogen receptor gene polymorphisms on bone mineral density or bone loss in postmenopausal Danish women. Bone 2000, 26: 111-6.
20. Taboulet J, Frenkian M, Frendo JL, Feingold N, Jullienne A, de Vernejoul MC. Calcitonin receptor polymorphism is associated with a decreased fracture risk in postmenopausal women. Hum Mol Genet 1998, 7: 2129-33.
21. Aerssens J, Dequeker J, Peeters J, Breemans S, Broos P, Boonen S. Polymorphisms of the VDR, ER and COLIA1 genes and osteoporotic hip fracture in elderly postmenopausal women. Osteoporos Int 2000, 11583-91.
22. Zajickova K, Zofkova I, Bahbouh R, Krepelova A. Vitamin D receptor gene polymorphisms, bone mineral density and bone turnover: Fokl genotype is related to postmenopausal bone mass. Physiol Res 2002, 51: 501-9.
23. Han KO, Moon IG, Kang YS, Chung HY, Min HK, Han IK. Non association of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women. J Clin Endocrinol Metab 1997, 82: 991-5.
24. Schuit SC, van Meurs JB, Bergink AP, et al. Height in pre- and postmenopausal women is influenced by estrogen receptor alpha gene polymorphisms. J Clin Endocrinol Metab 2004, 89: 303-9.
25. Nakamura M, Zhang ZQ, Shan L, et al. Allelic variants of human calcitonin receptor in the Japanese population. Hum Genet 1997, 99: 38-41.
26. Garnero P, Delmas PD. Biochemical markers of bone turnover. Applications for osteoporosis. Endocrinol Metab Clin North Am 1998, 27: 303-23.
27. Langdahl BL, Ralston SH, Grant SF, Eriksen EF. An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 1998, 13: 1384-9.
28. Vandevyver C, Vanhoof J, Declerck K, et al. Lack of association between estrogen receptor genotypes and bone mineral density, fracture history, or muscle strength in elderly women. J Bone Miner Res 1999, 14: 1576-82.
29. Arai H, Miyamoto K, Taketani Y, et al. A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 1997, 12: 915-21.
30. Gross C, Krishnan AV, Malloy PJ, Eccleshall TR, Zhao XY, Feldman D. The vitamin D receptor gene start codon polymorphism: a functional analysis of Fokl variants. Bone Miner Res 1998, 13: 1691-9.
31. Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R, Feldman D. The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 1996, 11: 1850-5.
32. Harris SS, Eccleshall TR, Gross C, Dawson-Hughes B, Feldman D. The vitamin D receptor start codon polymorphism (Fokl) and bone mineral density in premenopausal American black and white women. J Bone Miner Res 1997, 12: 1043-8.
33. Gennari L, Becherini L, Mansani R, et al. Fokl polymorphism at translation initiation site of the vitamin D receptor gene predicts bone mineral density and vertebral fractures in postmenopausal Italian women. J Bone Miner Res 1999, 14: 1379-86.
34. Lucotte G, Mercier G, Burckel A. The vitamin D receptor Fokl start codon polymorphism and bone mineral density in osteoporotic postmenopausal French women. Clin Genet 1999, 56: 221-4.
35. Hansen TS, Abrahamsen B, Henriksen FL, et al. Vitamin D receptor alleles do not predict bone mineral density or bone loss in Danish perimenopausal women. Bone 1998, 22: 571-5.
36. Viitanen A, Karkkainen M, Laitinen K, et al. Common polymorphism of the vitamin D receptor gene is associated with variation of peak bone mass in young finns. Calcif Tissue Int 1996, 59: 231-4.
37. Valimaki S, Tahtela R, Kainulainen K, et al. Relation of collagen type I alpha 1 (COL1A1) 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 2001, 12: 48-56.
38. Salamone LM, Ferrell R, Black DM, et al. The association between vitamin D receptor gene polymorphisms and bone mineral density at the spine, hip and whole-body in premenopausal women. Osteoporos Int 1996, 6: 63-8.
39. Krall EA, Parry P, Lichter JB, Dawson-Hughes B. Vitamin D receptor alleles and rates of bone loss: influences of years since menopause and calcium intake. J Bone Miner Res 1995, 10: 978-84.
40. Tsai FJ, Chen WC, Chen HY, Tsai CH. The ALUI calcitonin receptor gene polymorphism (TT) is associated with low bone mineral density and susceptibility to osteoporosis in postmenopausal women. Gynecol Obstet Invest 2003, 55: 82-7.
41. Zhang-Z, Meng X, Zhou X, et al. The association of calcitonin receptor genotypes with bone mineral density in Chinese women of Han nationality. Chin Med J (Engl) 2001, 114: 122-9.