Association between androgen receptor gene polymorphism and bone density in older women using hormone replacement therapy

Maturitas

Volumn 55, Issue 4, 2006, Pages 325-333

  Retornaz, Fréderique ^a   Paris, Françoise ^a   Lumbroso, Serge ^a   Audran, Françoise ^a   Tigoulet, Fabien ^a   Michelon, Cécile ^a   Jeandel, Claude ^a   Sultan, Charles ^a   Blain, Hubert ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

Androgen receptor polymorphism; Bone mineral density; CAG repeat; Osteoporosis; Postmenopausal women; X chromosome inactivation

Indexed keywords

ANDROGEN RECEPTOR; REPETITIVE DNA; SEX HORMONE;

ADULT; AGED; ARTICLE; BONE DENSITY; CAUCASIAN; CONTROLLED STUDY; DNA METHYLATION; ESTRADIOL BLOOD LEVEL; FEMALE; FEMUR NECK; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HORMONE SUBSTITUTION; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; POSTMENOPAUSE; POSTMENOPAUSE OSTEOPOROSIS; RECEPTOR GENE; X CHROMOSOME INACTIVATION;

AGED; AGED, 80 AND OVER; BONE DENSITY; DENSITOMETRY, X-RAY; DNA; ESTROGEN REPLACEMENT THERAPY; FEMALE; GENES, X-LINKED; HUMANS; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POSTMENOPAUSE; RECEPTORS, ANDROGEN; SEQUENCE ANALYSIS, DNA; SITE-SPECIFIC DNA METHYLTRANSFERASE (CYTOSINE-SPECIFIC); TRINUCLEOTIDE REPEATS; X CHROMOSOME INACTIVATION;

EID: 33750623768     PISSN: 03785122     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.maturitas.2006.04.025     Document Type: Article

References (50)

1. Cummings S.R., Nevitt M.C., Bowner W.S., Stone K., Fox K.M., and Ensrud K.E. Risk factors for hip fracture in white women. Study of Osteoporotic Fractures Research Group. N Engl J Med 332 (1995) 767-773
2. Pocok N.A., Eisman J.A., Hopper J.L., Yeates M.G., Sambrook P.N., and Eberl S. Genetic determinants of bone mass in adults. A twin study. J Clin Invest 80 (1987) 706-710
3. Slemenda C.W., Christian J.C., Williams C.J., Norton J.A., and Johnston C.C. Genetic determinants of bone mass in adult women: a reevaluation of the twin model and the potential importance of gene interaction on gene heritability estimates. J Bone Miner Res 6 (1991) 561-567
4. Seeman E., Tsalamandris C., Formica C., Hopper J.L., and Mc Kay J. Reduced femoral neck bone density in the daughters of women with hip fractures: the role of low peak bone density in the pathogenesis of osteoporosis. J Bone Miner Res 9 (1994) 739-743
5. Labrie F., Luu-The V., Labrie C., et al. Endocrine and intracrine sources of androgens in women: inhibition of breast cancer and other roles of androgens and their precursor dehydroepiandrosterone. Endocr Rev 24 (2003) 152-182
6. Miller K. Androgen deficiency in women. J Clin Endocrinol Metab 86 (2001) 2395-2401
7. Slemenda C.W., Longcope C., Peacok M., Hui S., and Johnston C.C. Sex steroids, bone mass, and bone loss. A prospective study of pre-, peri- and postmenopausal women. J Clin Invest 97 (1996) 14-21
8. Greendale G.A., Edelstein S., and Barrett-Connor E. Endogenous sex steroids and bone mineral density in older women and men: the Rancho Bernado Study. J Bone Miner Res 12 (1997) 1833-1843
9. Davis S.R., McCLoud P., Strauss B.J., and Burger H. Testosterone enhances estradiol's effect on postmenopausal bone density and sexuality. Maturitas 21 (1995) 227-236
10. Raisz L.G., Wiita B., Artis A., et al. Comparison of the effects of estrogen alone and estrogen plus androgen on biochemical markers of bone formation and resorption in postmenopausal women. J Clin Endocrinol Metab 81 (1996) 37-43
11. Barrett-Connor E., Young R., Notelovitz M., et al. A two-year double-blind comparison of estrogen-androgen and conjugated estrogens in surgically menopausal women. Effects on bone mineral density, symptoms and lipid profiles. J Reprod Med 44 (1999) 1012-1020
12. Notelovitz M. Androgen effects on bone and muscle. Ferti Steril 77 Suppl. 4 (2002) S34-S41
13. Abu E.O., Horner A., Kusec V., Trifitt J.T., and Compston J.E. The localization of androgen receptors in human bone. J Clin Endocrinol Metab 82 (1997) 3493-3497
14. Wiren K.M., Zhang X., Chan C., Keenan E., and Orwoll E.S. Transcriptional up-regulation of the human androgen receptor by androgen in bone cells. Endocrinology 138 (1997) 2291-2300
15. Sultan C., Lumbroso S., Paris F., et al. Disorders of androgen action. Semin Reprod Med 20 (2002) 217-228
16. Bertenolli S., Baroncelli G.I., Federico G., Cappa M., Lala R., and Saggese G. Altered bone mineral density in patients with complete androgen insensitivity syndrome. Horm Res 50 (1998) 309-314
17. Marcus R., Leary D., Schneider D.L., Shane E., Favus M., and Quigley C.A. The contribution of testosterone to skeletal development and maintenance: lesson from the androgen insensitivity syndrome. J Clin Endocrinol Metab 85 (2000) 1032-1037
18. Chamberlain N.L., Driver E.D., and Miesfeld R.L. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 22 (1994) 3181-3186
19. Gobinet J., Poujol N., and Sultan C. Molecular action of androgens. Mol Cel Endo 198 (2002) 15-24
20. Yu H., Bharaj B., Vassilikos E.J., Giai M., and Diamandis E.P. Shorter CAG repeat length in the androgen receptor gene is associated with more aggressive forms of breast cancer. Breast Cancer Res Treat 59 (2000) 153-161
21. Yaron M., Levy T., Chetrit A., et al. The polymorphic CAG repeat in the androgen receptor in Jewish Israeli women with endometrial carcinoma. Cancer 92 (2001) 1190-1194
22. Levine D., and Boyd J. The androgen receptor and genetic susceptibility to ovarian cancer: results from a case series. Cancer Res 61 (2001) 908-911
23. Giguere Y., Dewailly E., Brisson J., et al. Short polyglutamine tracts in the androgen receptor are protective against breast cancer in the general population. Cancer Res 61 (2001) 5869-5874
24. Hickey T., Chandy A., and Norman R.J. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. J Clin Endocrinol Metab 87 (2002) 161-165
25. Ibanez L., Ong K.K., Mongan N., et al. Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenism. J Clin Endocrinol Metab 88 (2003) 3333-3338
26. Buller R.E., Sood A.K., Lallas T., and Skilling J.S. Association between non-random X-chromosome inactivation and BRCA1 mutation in germline DNA of patients with ovarian cancer. J Natl Cancer Inst 91 (1999) 339-346
27. Busque L., Mio R., Mattioli J., et al. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood 88 (1996) 59-65
28. Sharp A., Robinson D., and Jacobs P. Age-and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 107 (2000) 343-349
29. Van Dijk J.P., Heuver L., Stevens-Linders E., et al. Acquired skewing of Lyonisation remains stable for a prolonged period in healthy blood donors. Leukemia 16 (2002) 326-327
30. Vottero A., Stratakis C.A., Ghizzoni L., Longui C.A., Karl M., and Chrousos G.P. Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism: skewing of X-chromosome inactivation. J Clin Endocrinol Metab 84 (1999) 1091-1095
31. Kristiansen M., langerød A., Knudsen G.P., Weber B.L., Børresen-dale A.L., and Ørstavik K.H. High frequency of skewed X inactivation in young breast cancer patients. J Med Genet 39 (2002) 30-33
32. Sowers M., Willing M., Burns T., et al. Genetic markers, bone mineral density, and serum osteocalcin levels. J Bone Miner Res 14 (1999) 1411-1419
33. Salmen T., Heikkinen A., Mahonen A., et al. Relation of androgen receptor gene polymorphism to bone mineral density and fracture risk in early postmenopausal women during a 5-year randomized hormone replacement therapy trial. J Bone Miner Res 18 (2003) 319-324
34. Langdahl B.L., Stenkjaer L., Carstens M., Tofteng C.L., and Eriksen E.F. A CAG repeat polymorphism in the androgen receptor gene is associated with reduced bone mass and increases risk of osteoporotic fractures. Calcif Tissue Int 73 (2003) 237-238
35. Chen H.Y., Chen W.C., Wu M.C., Tsai F.J., and Tsai C.H. Androgen receptor gene microsatellite polymorphism in postmenopausal women: correlation to bone mineral density and susceptibility to osteoporosis. Eur J Obstet Gynecol Reprod Biol 107 (2003) 52-56
36. Tofteng C.L., Kindmark A., Brändström H., et al. Polymorphisms in the CYP19 and AR genes: relation to bone mass and longitudinal bone changes in postmenopausal women with or without hormone replacement therapy: The Danish Osteoporosis Prevention Study. Calcif Tissue Int 74 (2004) 25-34
37. Stiger F., Gerdhem P., Brändström H., et al. A microsatellite marker in the estrogen receptor α gene, but not a microsatellite marker in the androgen receptor gene, is associated with bone mineral density in 75-year old Swedish women. J Bone Miner Res 15 Suppl. 1 (2000) S362
38. Yamada Y., Ando F., Noaakira N., and Shimokata H. Association of polymorphisms of the androgen receptor and klotho genes with bone mineral density in Japanese women. J Mol Med 83 (2005) 50-57
39. Van Pottelbergh I., Lumbroso S., Goemaere S., Sultan C., and Kaufman J.M. Lack of influence of the androgen receptor gene CAG-repeat polymorphism on sex steroid status and bone metabolism in elderly men. Clin Endocrinol (Oxf) 55 (2001) 659-666
40. Allen R.C., Zoghbi H.Y., Moseley A.B., Rosenblatt H.M., and Belmont J.W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51 (1992) 1229-1239
41. Naumova A.K., Plenge R.M., Bird L.M., et al. Heritability of X chromosome-inactivation phenotype in a large family. Am J Hum Genet 58 (1996) 1111-1119
42. Cummings S.R., Block G., McHenry K., and Baron R.B. Evaluation of two food frequency methods of measuring dietary calcium intake. Am J Epidemiol 126 (1987) 796-802
43. Khosla S., Riggs B.L., Robb R.A., et al. Relationship of volumetric bone density and structural parameters at different skeletal sites to sex steroid levels in women. J Clin Endocrinol Metab 90 (2005) 5096-5103
44. Cohen O., Vinker S., Yaphe J., and Kitai E. Hormone replacement therapy and WONCA/COOP functional status: a cross-sectional population-based study of women in Israel. Climacteric 8 (2005) 171-176
45. Genazzani A.R., Nicolucci A., Campagnoli C., et al. Assessment of the QoL in Italian menopausal women: comparison between HRT users and non-users. Maturitas 42 (2002) 267-280
46. Ferrari S., Rizzoli R., Slosman D., and Bonjour J.P. Familial resemblance for bone mineral mass is expressed before puberty. J Clin Endocrinol Metab 83 (1998) 358-361
47. Danielson M.E., Cauley J.A., Baker C.E., et al. Familial resemblance of bone mineral density (BMD) and calcaneal ultrasound attenuation: The BMD in mothers and daughters study. J Bone Miner Res 14 (1999) 102-110
48. Lyon M. The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes. Am J Hum Genet 42 (1988) 8-16
49. Platz E.A., Rimm E.B., Willett W.C., Kantoff P.W., and Giovannucci E. racial variation in prostate cancer incidence and in hormonal system markers among male health professionals. J Natl Cancer Inst 92 (2000) 2009-2017
50. Irvine R.A., Yu M.C., Ross R.K., and Coetzee G.A. The CAG and GCG microsatellites of the androgen receptor gene are in linkage disequilibrium in men with prostate cancer. Cancer Res 55 (1995) 1937-1940