Relationship of volumetric bone mineral density and structural parameters with ERα gene polymorphisms

Calcified Tissue International

Volumn 80, Issue 5, 2007, Pages 307-315

  Cepollaro, C ^a   Lauretani, F ^b   Gozzini, A ^a   Masi, L ^a   Falchetti, A ^a   Del Monte, F ^a   Carbonell Sala, S ^a   Tanini, A ^a   Corsi, A M ^b   Bandinelli, S ^c   Ferrucci, L ^d   Brandi, M L ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b Tuscany Regional Health Agency   (Italy)

^c Azienda Sanitaria di Firenze   (Italy)

^d NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

Cortical thickness; ER gene polymorphism; Peripheral bone; Quantitative computed tomography; Volumetric bone mineral density

Indexed keywords

ESTROGEN RECEPTOR ALPHA;

AGED; ARTICLE; BONE DENSITY; BONE STRUCTURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORTICAL BONE; DNA POLYMORPHISM; FEMALE; GENOTYPE; GEOMETRY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEX DIFFERENCE; STATISTICAL SIGNIFICANCE; TIBIA; TRABECULAR BONE;

ADULT; AGED; AGED, 80 AND OVER; BONE DENSITY; ESTROGEN RECEPTOR ALPHA; FEMALE; GENOTYPE; HUMANS; ITALY; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; SEX CHARACTERISTICS; SEX FACTORS; TIBIA; TOMOGRAPHY, X-RAY COMPUTED;

EID: 34250214524     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-007-9008-2     Document Type: Article

References (50)

1. NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, Therapy (2001) Osteoporosis prevention, diagnosis and therapy. JAMA 285:785-795
2. Melton LJ, Thamer M, Ray NF, Chan JK, Chesnut CH 3rd, Einhorn TA, Johnston CC, Raisz LG, Silverman SL, Siris ES (1997) Fractures attributable to osteoporosis: report from the National Osteoporosis Foundation. J Bone Miner Res 12:16-23
3. Ralston SH (2002) Genetic control of susceptibility to osteoporosis. J Clin Endocrinol Metab 87:2460-2466
4. Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H (1996) Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 11:306-311
5. Mizunuma H, Hosoi T, Okano H, Soda M, Tokizawa T, Kagami I, Miyamoto S, Ibuki Y, Inoue S, Shiraki M, Ouchi Y (1997) Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre- and post-menopausal women. Bone 21:1379-1383
6. Ongphiphadhanakul B, Rajatanavin R, Chanprasertyothin S, Piaseu N, Chailurkit L (1998) Estrogen receptor gene polymorphism is associated with bone mineral density in pre-menopausal women but not in post-menopausal women. J Endocrinol Invest 21:487-493
7. Han K, Choi J, Moon I, Yoon H, Han I, Min H, Kim Y, Choi Y (1999) Non-association of estrogen receptor genotypes with bone mineral density and bone turnover in Korean pre-, peri- and post-menopausal women. Osteoporos Int 9:290-295
8. Gennari L, Becherini L, Masi L, Mansani R, Gonnelli S, Cepollaro C, Martini S, Montagnani A, Lentini G, Becorpi AM, Brandi ML (1998) Vitamin D and estrogen receptor allelic variants in italian postmenopausal women: evidence of multiple gene contribution to bone mineral density. J Clin Endocrinol Metab 83:939-944
9. Vandevyver C, Vanhoof J, Declerck K, Stinissen P, Vandervorst C, Michiels L, Cassiman JJ, Boonen S, Raus J, Geusens P (1999) Lack of association between estrogen receptor genotypes and bone mineral density, fracture history or muscle strength in elderly women. J Bone Miner Res 14:1576-1582
10. Becherini L, Gennari L, Masi L, Mansani R, Massart F, Morelli A, Falchetti A, Gonnelli S, Fiorelli G, Tanini A, Brandi ML (2000) Evidence of a linkage disequilibrium between polymorphism in the human receptor α gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet 9:2043-2050
11. Brown MA, Haughton MA, Grant SF, Gunnell AS, Henderson NK, Eisman JA (2001) Genetic control of bone density and turnover: role of the collagen 1alpha1, estrogen receptor, and vitamin D receptor genes. J Bone Miner Res 16:758-764
12. Albagha OM, McGuigan FE, Red DM, Ralston SH (2001) Estrogen receptor α gene polymorphism and bone mineral density: haplotype analysis in women from the UK. J Bone Miner Res 16:128-134
13. Ioannidis JP, Stavrou I, Trikalinos TA, Zois C, Brandi ML, Gennari L, Albagha O, Ralston SH, Tsatsoulis A (2002) Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis. J Bone Miner Res 17:2048-2060
14. Yamada Y, Ando F, Niino N, Ohta S, Shimokata H (2002) Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density of the femoral neck in elderly Japanese women. J Mol Med 80:452-460
15. Sapir-Koren R, Livshits G, Kobyliansky E (2003) Genetic effects of estrogen receptor alpha and collagen IA1 genes on the relationships of parathyroid hormone and 25 hydroxyvitamin D with bone mineral density in Caucasian women. Metabolism 52:1129-1135
16. van Meurs JBJ, Schuit SCE, Weel AE, van der Klift M, Bergink AP, Arp PP, Colin EM, Fang Y, Hofman A, van Duijn C, van Leeuwen Jp, Pols HAP, Uitterlinden AG (2003) Association of 5′ estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk. Hum Mol Genet 12:1745-1754
17. Qin YJ, Zhang ZL, Huang QR, He JM, Hu YQ, Zhao Q, Lu JH, Li M, Liu YJ (2004) Association of vitamin D receptor and estrogen receptor-alpha gene polymorphism with peak bone mass and bone size in Chinese women. Acta Pharmacol Sin 25:462-468
18. Sowers M, Jannausch ML, Liang W, Willing M (2004) Estrogen receptor genotypes and their association with the 10-year changes in bone mineral density and osteocalcin concentrations. J Clin Endocrinol Metab 89:733-739
19. Dennison E, Syddall H, Fall C, Brandi ML, Cooper C; Hertfordshire Cohort Study Group (2005) Evidence of sexual dimorphism in relationships between estrogen receptor polymorphisms and bone mass: the Hertfordshire study. J Rheumatol 32:2400-2404
20. Mitra S, Desai M, Khatkhatay I (2006) Association of estrogen receptor α gene polymorphism with bone mineral density in postmenopausal Indian women. Mol Genet Metab 87:80-87
21. Lorentzon M, Lorentzon R, Backstrom T, Nordstrom P (1999) Estrogen receptor gene polymorphism, but not estradiol levels, is related to bone density in healthy adolescent boys: a cross-sectional and longitudinal study. J Clin Endocrinol Metab 84:4597-4601
22. Allcroft LC, Varanasi SS, Dimopoulos D, Francis RM, Datta HK (2002) Mutational and polymorphic analysis of the estradiol receptor-alpha gene in men with symptomatic vertebral fractures. Calcif Tissue Int 71:400-405
23. Koh JM, Kim DJ, Hong JS, Park JY, Lee KU, Kim SY, Kim GS (2002) Estrogen receptor alpha gene polymorphisms PvuII and XbaI influence association between leptin receptor gene polymorphism (Gln223Arg) and bone mineral density in young men. Eur J Endocrinol 147:777-783
24. Remes T, Vaisanen SB, Mahonen A, Huuskonen J, Kroger H, Jurvelin JS, Penttila IM, Rauramaa R (2003) Aerobic exercise and bone mineral density in middle-aged Finnish men: a controlled randomized trial with reference to androgen receptor, aromatase, and estrogen receptor alpha gene polymorphisms. Bone 32:412-420
25. Long JR, Zhang YY, Liu PY, Liu YJ, Shen H, Dvornyk V, Zhao LJ, Deng HW (2004) Association of estrogen receptor alpha and vitamin D receptor gene polymorphisms with bone mineral density in Chinese males. Calcif Tissue Int 74:270-276
26. Khosla S, Riggs BL, Atkinson EJ, Oberg AL, Mavilia C, Del Monte F, Melton LJ 3rd, Brandi ML (2004) Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men. J Clin Endocrinol Metab 89:1808-1816
27. Valimaki VV, Pioppo K, Valimaki S, Loyttyniemi E, Kontula K, Valimaki MJ (2005) The relation of the XbaI and PvuII polymorphisms of the estrogen receptor gene and the CAG repeat polymorphism of the androgen receptor gene to peak bone mass and bone turnover rate among young healthy men. Osteoporos Int 16:1633-1640
28. Mayhew P, Thoomas CD, Clement JG, Loveridge N, Beck TJ, Bonfield W, Burgoyne CJ, Reeve J (2005) Relation between age, femoral neck cortical stability, and hip fracture risk. Lancet 366:129-135
29. Ioannidis JPA, Ralston SH, Bennett ST, Brandi ML, Grimberg D, Karassa FB, Langdahl B, Van Meurs JBJ, Mosekilde L, Scollen S, Albagha OME, Bustamante M, Carey AH, Dunning AM, Enjuanes A, Van Leeuwen JPTM, Mavilia C, Masi L, McGuigan FEA, Nogues X, Pols HAP, Reid DM, Schuit SCE, Sherlock RE, Uitterlinden AG (2004) Differential genetic effects of ESR1 gene polymorphisms on osteoporotic outcomes. JAMA 292:2105-2114
30. Ferrucci L, Bandinelli S, Benvenuti E, Di Iorio A, Macchi C, Harris TB, Guralnik JM (2000) Subsystems contributing to the decline in ability to walk bridging the gap between epidemiology and geriatric practice in the InCHIANTI study. J Am Geriatr Soc 48:1618-1625
31. Pisani P, Faggiano F, Krogh V, Palli D, Vineis P, Berrino F (1997) Relative validity and reproducibility of a food frequency dietary questionnaire for use in the Italian EPIC centres. Int J Epidemiol 26:152-160
32. Bartali B, Salvini S, Turrini A, Lauretani F, Russo CR, Corsi AM, Bandinelli S, D'Amicis A, Palli D, Guralnik JM, Ferrucci L (2003) Age and disability affect dietary intake. J Nutr 133:2868-2873
33. Bartali B, Turrini A, Salvini S, Lauretani F, Russo CR, Corsi AM, Bandinelli S, D'Amicis A, Palli D, Guralnik JM, Ferrucci L (2004) Dietary intake estimated using different methods in two Italian older populations. Arch Gerontol Geriatr 38:51-60
34. Russo CR, Lauretani F, Bandinelli S, Bartali B, Di Iorio A, Volpato S, Guralnik JM, Harris T, Ferrucci L (2003) Aging bone in men and women: beyond changes in bone mineral density. Osteoporos Int 14:531-538
35. Russo CR, Lauretani F, Seeman E, Bartali B, Bandinelli S, Di Iorio A, Guralnik J, Ferrucci L (2006) Structural adaptations to bone loss in aging men and women. Bone 38:112-118
36. Sievanen H, Koskue V, Rauhio A, Kannus P, Heinonen A, Vuori I (1998) Peripheral quantitative computed tomography in human long bones: evaluation of in vitro and in vivo precision. J Bone Miner Res 13:871-882
37. Rittweger J, Beller G, Ehrig J, Jung C, Koch U, Ramolla J, Ramolla J, Schmidt F, Newitt D, Majumdar S, Schiessl H, Felsenberg D (2000) Bone-muscle strength indices for the human lower leg. Bone 27:319-326
38. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
39. Yaich L, Dupont WD, Cavener DR, Parl FF (1992) Analysis of the PvuII restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer and peripheral blood. Cancer Res 52:77-83
40. Petersen M, Wengel J (2003) LNA: a versatile tool for therapeutics and genomics. Trends Biotechnol 21:74-81
41. Braasch DA, Corey DR (2001) Locked nucleic acid (LNA): fine-tuning the recognition of DNA and RNA. Chem Biol 8:1-7
42. Latorra D, Arar K, Hurley JM (2003) Design considerations and effects of LNA in PCR primers. Mol Cell Probes 17:253-259
43. Livak KJ (1999) Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal 14:143-149
44. Ito M, Tsurusaki K, Hayashi K (1997) Peripheral QCT for the diagnosis of osteoporosis. Osteoporos Int 7:120-127
45. Guglielmi G, Schneider P, Lang TF, Giannatempo GM, Cammisa M, Genant HK (1997) Quantitative computed tomography at the axial and peripheral skeleton. Eur Radiol 7:32-42
46. Rubin CD (2005) Emerging concepts in osteoporosis and bone strength. Curr Med Res Opin 21:1049-1056
47. Nieves JW, Formica C, Ruffing J, Zion M, Garett P, Lindsay R, Cosman F (2005) Males have larger skeletal size and bone mass than females, despite comparable body size. J Bone Miner Res 20:529-535
48. Beck TJ, Ruff CB, Mourtada FA, Shaffer RA, Maxwell-Williams K, Kao GL, Sartoris DJ, Brodine S (1996) Dual-energy X-ray absorptiometry derived structural geometry for stress fracture prediction in male U.S. Marine Corps recruits. J Bone Miner Res 11:645-653
49. Oleksik A, Ott SM, Vedi S, Bravenboer N, Compston J, Lips P (2000) Bone structure in patients with low mineral density with or without vertebral fractures. J Bone Miner Res 15:1368-1375
50. Suuriniemi M, Mahonen A, Kovanen V, Alen M, Lyytikainen A, Wang Q, Kroger H, Cheng S (2004) Association between exercise and pubertal BMD is modulated by estrogen receptor α genotype. J Bone Miner Res 19:1758-1765