Association of VDR and estrogen receptor genotypes with bone mass in postmenopausal caucasian women: Different conclusions with different analyses and the implications

Osteoporosis International

Volumn 9, Issue 6, 1999, Pages 499-507

  Deng, Hong Wen ^a   Li, Jian ^a   Li, Jin Long ^a   Johnson, M ^a   Gong, G ^a   Recker, R R ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Bone mineral density; Distal radius; Estrogen receptor genotypes; Femoral neck; Spine; Total body bone mass; Vitamin D receptor genotypes

Indexed keywords

ESTROGEN RECEPTOR; VITAMIN D RECEPTOR;

AGED; ARTICLE; BODY HEIGHT; BODY WEIGHT; BONE DENSITY; BONE MASS; BONE MINERAL; CAUCASIAN; FEMALE; FEMUR NECK; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; POSTMENOPAUSE; PRIORITY JOURNAL; RADIUS; SPINE; STATISTICAL ANALYSIS;

EID: 0032804430     PISSN: 0937941X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001980050177     Document Type: Article

References (63)

1. Kanis JA, Melton LJ III, Christiansen C, Johnston CC, Khaltaev N. The diagnosis of osteoporosis. J Bone Miner Res 1994;9:1137-41.
2. Moller M, Horsman A, Harvald B, Hauge M, Henningsen K, Nordin BEC. Metacarpal morphometry in monozygotic and dizygotic elderly twins. Calcif Tissue Res 1978;25:197-201.
3. Dequeker J, Nijs J, Verstraeten A, Geusens P, Gevers G. Genetic determinants of bone mineral content at the spine and radius: a twin study. Bone 1987;8:207-9.
4. Pocock NA, Eisman JA, Hopper JL, Yeates MG, Sambrook PN, Eberl S. Genetic determinants of bone mass in adults. J Clin Invest 1987;80:706-10.
5. Christian JC, Yu P-L, Slemenda CW, Johnston CCJ. Heritability of bone mass: a longitudinal study in aging male twins. Am J Hum Genet 1989;44:429-33.
6. Kelly PJ, Hopper JL, Macaskill GT, Pocock NA, Sambrook PN, Eisman JA. Genetic factors in bone turnover. J Clin Endocrinol Metab 1991;72:808-13.
7. Lutz J. Bone mineral, serum calcium and dietary intakes of mother/daughter pairs. Am J Clin Nutr 1986;44:99-106.
8. Evans RA, Marel GM, Lancaster EK, Kos S, Evans M, Wong SYP. Bone mass is low in relatives of osteoporotic patients. Ann Intern Med 1988;109:870-3.
9. Seeman E, Hopper JL, Basch LA, Cooper ME, Parkinson E, MaKay J, et al. Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 1989;320:554-8.
10. Deng HW, Kimmel D, Conway T, Davies KM, Recker RR. High narrow sense heritability for peak bone mass in human. J Bone Miner Res 1997;12:S493.
11. Deng HW, Stegman MR, Conway T, Davies KM, Recker RR. Genetic determination of variation and covariation of peak bone mass at hip and spine. J Clinical Densitometry 1999; (in press).
12. Morrison NA, Qi JC, Tokita a, Kelly PJ, Crofts L, Nguyen TV, et al. Prediction of bone density from vitamin D receptor alleles. Nature 1994;367:284-7.
13. Cooper GS, Umbach DM. Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J Bone Miner Res 1996;11:1841-9.
14. Melhus H, Kindmark A, Amer S, Wilen B, Lindh E, Ljunghall S. Vitamin D receptor genotypes in osteoporosis. Lancet 1994;344:949-50.
15. Yamagata Z, Miyamura T, lijima S, Asaka A, Sasaki M, Kato J, et al. Vitamin D receptor gene polymorphism and bone mineral density in healthy Japanese women. Lancet 1994;344:1027.
16. Hustmyer FG, Peacock M, Hui S, Johnston CC, Christian J. Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus. J Clin Invest 1994;94:2130-4.
17. Kroger H, Mahonen A, Ryhanen S, Turunen A-M, Alhava E, Maenpaa P. Vitamin D receptor genotypes and bone mineral density. Lancet 1995;345:1238.
18. Spector TD, Keen RW, Arden NK, Morrison NA, Major PJ, Nguyen TV, 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.
19. 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.
20. Fleet JC, Harris SS, Wood RJ, Dawson-Hughes B. The Bsml vitamin D receptor restriction fragment polymorphism (BB) predicts low bone density in premenopausal black and white women. J Bone Miner Res 1995;10:985-90.
21. Riggs BL, Nguyen TV, Melton LJ, Morrison NA, O'Fallon WM, Kelly PJ, et al. The contribution of vitamin D receptor gene alleles to the determination of bone mineral density in normal and osteoporotic women. J Bone Miner Res 1995;10:991-6.
22. Garnero P, Borel O, Sornay-Rendu E, Delmas PD. Vitamin D receptor gene polymorphisms do not predict bone turnover and bone in healthy premenopausal women. J Bone Miner Res 1995;10:1283-8.
23. Barger-Lux MJ, Heaney RP, Hayes J, Deluca HF, Johnson ML, Gong G. Vitamin D receptor gene polymorphism, bone mass, body size, and vitamin D receptor density. Calcif Tissue Int 1995;57:161-2.
24. Salamone LM, Ferrell R, Black DM, Palermo L, Epstein RS, Petro N, 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. Erratum. Osteoporos Int 1996;6:187-8.
25. Houston LA, Grant SFA, Reid DM, Ralston SH. Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: studies in a UK population. Bone 1996;18:249-52.
26. Ewald B, Eun-Kyun S, Richard MW, Thomas L, Dieter SWM, Simon P. Genotypes of the vitamin-D-receptor gene and bone mineral density in Caucasoid postmenopausal females. Maturitas 1996;24:91-6.
27. Garnero P, Boral O, Sornay-Rendu E, Arlot ME, Delmas PD. Vitamin D receptor gene polymorphisms are not related to bone turnover, rate of bone loss, and bone mass in postmenopausal women: the OFELY study. J Bone Miner Res 1996;11:827-34.
28. Tokita A, Matsumoto H, Morrison NA, Tawa T, Miura Y, Fukamauchi K, et al. Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women. J Bone Miner Res 1996;11:1003-9.
29. Eisman JA. Vitamin D receptor gene alleles and osteoporosis: an affirmative view. J Bone Miner Res 1995;10:1289-93.
30. Peacock M. Vitamin D receptor gene alleles and osteoporosis: a contrasting view. J Bone Miner Res 1995;10:1294-7.
31. Parfitt AM. Vitamin D receptor genotypes in osteoporosis. Lancet 1994;344:1580.
32. Ferrari S, Rizzoli R, Chevalley T, Slosman D, Eisman JA, Bonjour J-P. Vitamin-D-receptor gene polymorphisms and change in lumbar-spine bone mineral density. Lancet 1995;345:423-4.
33. Nguyen TV, Kelly PJ, Morrison NA, Sambrook PN, Eisman JA. Vitamin D receptor genotypes in osteoporosis. Lancet 1994;344:1581-2.
34. Han KO, Moon IG, Kang YS, Chung HY, Min HK, Han IK. Nonassociation 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.
35. Kobayashi S, Imoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H. Association of bone mineral density with polymorphism of estrogen gene. J Bone Miner Res 1996;11:306-11.
36. Sowers MF, Aron D, Burns T, Clark K, Willing M. Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J Bone Miner Res 1997;12:295.
37. Williing M, Sowers M, Aron D, Clark MK, Burns T, Bunten C, 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.
38. Gennari L, Becherini L, Masi L, Mansani R, Gonnelli S, Cepollaro C, et al. Vitamin D and estrogen receptor alleleic variants in postmenopausal women: evidence of an additive effect on bone mineral density. J Bone Miner Res 1998;12:F581.
39. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-7.
40. Lander ES, Schork NJ. Genetic dissection of complex traits. Science 1994;265:2037-48.
41. Recker RR, Davies KM, Dowd RM, Heaney RP. Bone saving effects of low dose continuous estrogen progestin with calcium and vitamin D in elderly women. Annals of Internal Medicine 1999; (in press).
42. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
43. Yaich L, Dupont WD, Cavener DR, Pari FF. Analysis of the Pvull restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer. Cancer Res 1992;52:77-83.
44. SAS Institute. SAS/STAT user's guide, version 6. Vols 1 and 2. 4th ed. Cary, NC: SAS Institute, 1990.
45. Weir B. Genetic data analysis II. Sunderland, MA: Sinauer Associates, 1996.
46. Myers RH. Classical and modern regression with applications. Boston, MA: PWS-KENT Publishing, 1990.
47. Sokal RR, Rohlf FJ. Biometry. 3rd ed. New York: WH Freeman, 1995.
48. Spotila LD, Caminis J, Johnston R, Shimoya KS, O'Connor MPO, Prockop DJ, et al. Vitamin D receptor genotype is not associated with bone mineral density in three ethnic/regional groups. Calcif Tissue Int 1996;59:235-7.
49. Tsai KS, Hsu SHJ, Cheng WC, Chieng CK, Pan WH. Bone mineral density and bone markers in relation to vitamin D receptor gene polymorphisms in Chinese men and women. Boie 1996;19:513-8.
50. Bhudhilanok GS, Wang MH, Eckert K, Matkin C, Marcus R, Bachrach LK. Differences in bone mineral in young Asian and Caucasian Americans may reflect differences in bone size. J Bone Miner Res 1996;11:1545-56.
51. Ott J. Analysis of human genetic linkage. Baltimore. MD: Johns Hopkins University Press, 1991.
52. Crow J, Kimura M. An introduction to population genetics theory. New York: Harper & Row, 1970.
53. Lynch M, Walsh B. Genetics and data analyses of quantitative traits. Sunderland, MA: Sinauer Associates, 1997.
54. Risch N, Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 1995;268:1584-9.
55. Zhang H, Risch N. Mapping quantitative-trait loci in humans by use of extreme concordant sib pairs: selected sampling by parental phenotypes. Am J Hum Genet 1996;59:951-7.
56. Risch NJ, Zhang H. Mapping quantitative trait loci with extreme discordant sib pairs: sampling considerations. Am J Hum Genet 1996;58:836-43.
57. Nguyen TV, Howard GM, Kelly PJ, Eisman JA. Bone mass, lean mass, and fat mass: same genes or same environments? Am J Epidemiol 1998;147:3-16.
58. Hui SL, Wiske PS, Norton JA, Johnston CC Jr. A prospective study of change in bone mass with age in postmenopausal women. J Chron Dis 1982;353:715-25.
59. Ensrud KE, Palermo L, Black DM, et al. Hip and calcaneal bone loss increase with advancing age: longitudinal results from the Study of Osteoporotic Fractures. J Bone Miner Res 1995;10:1778-87.
60. Steiger P, Cummings SR, Black DM, Spencer NE, Genant HK. Age-related decrements in bone mineral density in women over 65. J Bone Miner Res 1992;7:625-32.
61. Deng HW, Li JL, Li J, Davies MK, Recker RR. Heterogeneity of bone mass density across skeletal sites and its clinical implications. J Clin Densitom 1998; in press.
62. Grandien K, Backdahl M, Ljunggren O, Gustafsson JA, Berkenstam A. Estrogen target tissue determines alternative promoter utilization of the human estrogen receptor gene in osteblasts and tumor cell lines. Endocrinology 1995;136:23-9.
63. Ray NF, Chan JK, Thamer M, Melton LJ III. Medical expenditures for the treatment of osteoporotic fractures in the United States in 1995: report from the National Osteoporosis Foundation. J Bone Miner Res 1997;12:24-35.