Association between estrogen receptor-β dinucleotide repeat polymorphism and incidence of femoral fracture

Journal of Bone and Mineral Metabolism

Volumn 31, Issue 1, 2013, Pages 96-101

  Honma, Naoko ^a   Mori, Seijiro ^b   Zhou, Heying ^b   Ikeda, Shinobu ^c   Mieno, Makiko Naka ^d   Tanaka, Noriko ^e   Takubo, Kaiyo ^a   Arai, Tomio ^b   Sawabe, Motoji ^b   Muramatsu, Masaaki ^c   Ito, Hideki ^b  

^a TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^b Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d JICHI MEDICAL UNIVERSITY   (Japan)

^e NSABP Foundation Inc   (United States)

Author keywords

CA repeat polymorphism; Estrogen receptor ; Femoral fracture; Osteoporosis

Indexed keywords

ADENINE; CYTOSINE; DNA; ESTROGEN RECEPTOR BETA; FLUORESCEIN;

AGED; ALLELE; ARTICLE; BONE DENSITY; DINUCLEOTIDE REPEAT; DISEASE ASSOCIATION; DNA POLYMORPHISM; ESTROGEN RECEPTOR BETA GENE; FEMALE; FEMUR FRACTURE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; INCIDENCE; KIDNEY CORTEX; MAJOR CLINICAL STUDY; MALE; OSTEOPOROSIS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK ASSESSMENT;

AGED; AGED, 80 AND OVER; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; DINUCLEOTIDE REPEATS; ESTROGEN RECEPTOR BETA; FEMALE; FEMORAL FRACTURES; HUMANS; INCIDENCE; JAPAN; MALE; POLYMORPHISM, GENETIC; RISK FACTORS; SEX CHARACTERISTICS;

EID: 84876231965     PISSN: 09148779     EISSN: 14355604     Source Type: Journal    
DOI: 10.1007/s00774-012-0383-z     Document Type: Article

References (27)

1. Orimo H, Hayashi Y, Fukunaga M, Sone T, Fujiwara S, Shiraki M, Kushida K, Miyamoto S, Soen S, Nishimura J, Oh-Hashi Y, Hosoi T, Gorai I, Tanaka H, Igai T, Kishimoto H (2001) Diagnostic criteria for primary osteoporosis: year 2000 revision. J Bone Miner Metab 19:331-337
2. Albagha OM, Ralston SH (2003) Genetic determinants of susceptibility to osteoporosis. Endocrinol Metab Clin N Am 32:65-81, vi
3. Peacock M, Turner CH, Econs MJ, Foroud T (2002) Genetics of osteoporosis. Endocr Rev 23:303-326
4. Hirschhorn JN, Gennari L (2008) Bona fide genetic associations with bone mineral density. N Engl J Med 358:2403-2405
5. Ralston SH, de Crombrugghe B (2006) Genetic regulation of bone mass and susceptibility to osteoporosis. Genes Dev 20:2492-2506
6. Khosla S, Melton LJ 3rd, Atkinson EJ, O'Fallon WM (2001) Relationship of serum sex steroid levels to longitudinal changes in bone density in young versus elderly men. J Clin Endocrinol Metab 86:3555-3561
7. Slemenda CW, Longcope C, Zhou L, Hui SL, Peacock M, Johnston CC (1997) Sex steroids and bone mass in older men. Positive associations with serum estrogens and negative associations with androgens. J Clin Invest 100:1755-1759
8. Ettinger B, Genant HK, Cann CE (1985) Long-term estrogen replacement therapy prevents bone loss and fractures. Ann Intern Med 102:319-324
9. Lindsay R, Hart DM, Aitken JM, MacDonald EB, Anderson JB, Clarke AC (1976) Long-term prevention of postmenopausal osteoporosis by oestrogen. Evidence for an increased bone mass after delayed onset of oestrogen treatment. Lancet 1:1038-1041
10. Kuiper GG, Enmark E, Pelto-Huikko M, Nilsson S, Gustafsson JA (1996) Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci USA 93:5925-5930
11. Mosselman S, Polman J, Dijkema R (1996) ER beta: identification and characterization of a novel human estrogen receptor. FEBS Lett 392:49-53
12. Arts J, Kuiper GG, Janssen JM, Gustafsson JA, Lowik CW, Pols HA, van Leeuwen JP (1997) Differential expression of estrogen receptors alpha and beta mRNA during differentiation of human osteoblast SV-HFO cells. Endocrinology 138:5067-5070
13. Onoe Y, Miyaura C, Ohta H, Nozawa S, Suda T (1997) Expression of estrogen receptor beta in rat bone. Endocrinology 138:4509-4512
14. Tsukamoto K, Inoue S, Hosoi T, Orimo H, Emi M (1998) Isolation and radiation hybrid mapping of dinucleotide repeat polymorphism at the human estrogen receptor beta locus. J Hum Genet 43:73-74
15. Geng L, Yao Z, Yang H, Luo J, Han L, Lu Q (2007) Association of CA repeat polymorphism in estrogen receptor beta gene with postmenopausal osteoporosis in Chinese. J Genet Genomics 34:868-876
16. Lau HH, Ho AY, Luk KD, Kung AW (2002) Estrogen receptor beta gene polymorphisms are associated with higher bone mineral density in premenopausal, but not postmenopausal southern Chinese women. Bone 31:276-281
17. Ogawa S, Hosoi T, Shiraki M, Orimo H, Emi M, Muramatsu M, Ouchi Y, Inoue S (2000) Association of estrogen receptor beta gene polymorphism with bone mineral density. Biochem Biophys Res Commun 269:537-541
18. Scariano JK, Simplicio SG, Montoya GD, Garry PJ, Baumgartner RN (2004) Estrogen receptor beta dinucleotide (CA) repeat polymorphism is significantly associated with bone mineral density in postmenopausal women. Calcif Tissue Int 74:501-508
19. Shearman AM, Karasik D, Gruenthal KM, Demissie S, Cupples LA, Housman DE, Kiel DP (2004) Estrogen receptor beta polymorphisms are associated with bone mass in women and men: the Framingham Study. J Bone Miner Res 19:773-781
20. Takeo C, Ugai K, Araki J, Zhang L, Baba M, Ohashi W, Ueno K, Suzuki Y, Amano K, Hirai A, Muramatsu M (2008) Pharmacogenetics of hormone replacement therapy for climacteric symptoms. Biochem Biophys Res Commun 374:604-608
21. Forsell C, Enmark E, Axelman K, Blomberg M, Wahlund LO, Gustafsson JA, Lannfelt L (2001) Investigations of a CA repeat in the oestrogen receptor beta gene in patients with Alzheimer's disease. Eur J Hum Genet 9:802-804
22. Slattery ML, Sweeney C, Murtaugh M, Ma KN, Wolff RK, Potter JD, Caan BJ, Samowitz W (2005) Associations between ERalpha, ERbeta, and AR genotypes and colon and rectal cancer. Cancer Epidemiol Biomarkers Prev 14:2936-2942
23. Westberg L, Baghaei F, Rosmond R, Hellstrand M, Landen M, Jansson M, Holm G, Bjorntorp P, Eriksson E (2001) Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J Clin Endocrinol Metab 86:2562-2568
24. Sakuma M, Endo N, Oinuma T, Endo E, Yazawa T, Watanabe K, Watanabe S (2008) Incidence and outcome of osteoporotic fractures in 2004 in Sado City, Niigata Prefecture, Japan. J Bone Miner Metab 26:373-378
25. Shimokata H (2004) Epidemiological statistics of dementia in Japan. Nihon Rinsho 62:121-126
26. Ugai K, Nishimura K, Fukino K, Nakamura T, Ueno K (2008) Functional analysis of transcriptional activity of cytosine and adenine (CA) repeats polymorphism in the estrogen receptor beta gene. J Toxicol Sci 33:237-240
27. Poola I, Abraham J, Baldwin K (2002) Identification of ten exon deleted ERbeta mRNAs in human ovary, breast, uterus and bone tissues: alternate splicing pattern of estrogen receptor beta mRNA is distinct from that of estrogen receptor alpha. FEBS Lett 516:133-138