Association and linkage disequilibrium analyses suggest genetic effects of estrogen receptor α and collagen IA1 genes on bone mineral density in Caucasian women

Calcified Tissue International

Volumn 72, Issue 6, 2003, Pages 643-650

  Sapir Koren, R ^a   Livshits, G ^a   Kobyliansky, E ^a  

^a TEL AVIV UNIVERSITY   (Israel)

Author keywords

Association; BMD; Collagen IA1; Estrogen receptor; TDT

Indexed keywords

COLLAGEN TYPE 1; ESTROGEN RECEPTOR ALPHA;

ADULT; AGE; AGED; ALLELE; ARTICLE; BONE DENSITY; CANCELLOUS BONE; CAUCASIAN; COLLAGEN IA1 GENE; CORTICAL BONE; ESTROGEN RECEPTOR ALPHA GENE; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HAND; HAPLOTYPE; HEIGHT; HUMAN; LINEAR REGRESSION ANALYSIS; MALE; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE; WEIGHT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BONE DENSITY; COLLAGEN TYPE I; ESTROGEN RECEPTOR ALPHA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FINGERS; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; NUCLEAR FAMILY; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, ESTROGEN; RUSSIA;

EID: 0042266425     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-002-2006-5     Document Type: Article

References (32)

1. Audi L, Garcia-Ramirez M, Carrascosa A (1999) Genetic determinants of bone mass. Horm Res 51:105-123
2. Cardon LR, Garner C, Bennett ST, Mackay IJ, Edwards J, Cornish J, Hegde M, Murray MAP, Reid IR, Cundy T (2000) Evidence for a major gene for bone mineral density in idiopathic osteoporosis families. J Bone Miner Res 15:1132-1137
3. Flicker L, Hopper JL, Rodgers L, Kaymakci B, Green JD, Wark JD (1995) Bone density determinants in elderly women: a twin study. J Bone Miner Res 10:1607-1613
4. Livshits G, Karasik D, Otremski I, Kobyliansky E (1998) Genes play an important role in bone aging. Am J Hum Biol 10:421-428
5. Livshits G, Karasik D, Pavlovsky OM, Kobyliansky E (1999) Segregation analysis reveals a major gene effect in compact and cancellous bone mineral density in two populations. Hum Biol 71:155-172
6. Pocock NA, Eisman JA, Hopper JL, Yeates MG, Sambrook PN, Ebert S (1987) Genetic determinants of bone mass in adults: a twin study. J Clin Inves 80:706-710
7. Smith DM, Nance WE, Kang KW, Christian JC, Johnston CC (1973) Genetic factors in determining bone mass. J Clin Invest 52:2800-2808
8. Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH (1996) Reduced bone density and osteoporosis associated with a polymorphic SP1 binding site in the collagen type I α1 gene. Nat Genet 14:203-205
9. Sainz J, van Tornout JM, Sayre J, Kaufman F, Gilsanz V (1999) Association of collagen type I α 1 gene polymorphism with bone density in early childhood. J Clin Endocrinol Metab 84:853-855
10. Langdahl BL, Ralston SH, Grant SFA, Eriksen EF (1998) An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in both men and women. J Bone Miner Res 13:1384-1389
11. Uitterlinden AG, Weel AEAM, Burger H, Fang Y, van Duijn CM, Hofman A, van Leeuwen JPTM, Pols HAP (2001) Interaction between the vitamin D receptor gene and collagen type Iα1 gene in susceptibility for fracture. J Bone Miner Res 16:379-385
12. Liden M, Wilen B, Ljunghall S, Melhus H (1998) Polymorphism at the Sp1 binding site in the collagen type Iα1 gene does not predict bone mineral density in postmenopausal women in Sweden. Calcif Tissue Int 63:293-295
13. Vaananen HK, Harkonen PL (1996) Estrogen and bone metabolism. Maturitas 23(suppl):S65-S69
14. 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
15. Albagha OME, McGuigan FEA, Reid DM, Ralston SH (2001) Estrogen receptor α gene polymorphisms and bone mineral density: haplotype analysis in women from the United Kingdom. J Bone Miner Res 16:128-134
16. 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 linkage disequilibrium between polymorphisms in the human estrogen receptor α gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet 9:2043-2050
17. Brown MA, Haughton MA, Grant SFA, Gunnell AS, Henderson NK, Eisman JA (2001) Genetic control of bone density and turnover: role of the collagen Iα1, estrogen receptor, and vitamin D receptor genes. J Bone Miner Res 16:758-764
18. Deng HW, Li J, Li JL, Johnson M, Gong G, Recker RR (1999) Association of VDR and estrogen receptor genotypes with bone mass in postmenopausal Caucasian women: different conclusions with different analyses and the implications. Osteoporos Int 9:499-507
19. Han KO, Moon IG, Kang YS, Chung HY, Min HK, Ran IK (1997) Nonassociation of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women. J Clin Endocrinol Metab 82:991-995
20. Livshits G, Karasik D, Kobyliansky E (2002) Complex segregation analysis of the radiographic phalanges BMD and their age-related changes. J Bone Miner Res 17:152-161
21. Sapir-Koren R, Livshits G, Landsman T, Kobyliansky E (2001) Bone mineral density is associated with estrogen receptor gene polymorphism in men. Anthropol Anz 59:343-353
22. Malkin I, Ginsburg E, Elston RC (2001) Extreme-offspring design in transmission disequilibrium tests for quantitative traits. Abstracts from the 10th Annual Meeting of the IGES. Genet Epidemiol 22:165
23. Malkin I, Ginsburg E, Elston RC (2002) Increase in power of transmission disequilibrium tests for quantitative traits. Genet Epidemiol 23:234-244
24. Allison DB (1997) Transmission-disequilibrium tests for quantitative traits. Am J Hum Genet 60:676-690
25. Sokal RB, Rohlf FJ (1981) Biometry: the principles and practice of statistics in biological research, 2nd ed. WH Freeman and Co, San Francisco, pp 779-780
26. Kobayashi N, Fujino T, Shirogane T, Furuta I, Kobamatsu Y, Yaegashi M, Sakuragi N, Fujimoto S (2002) Estrogen receptor α polymorphism as a genetic marker for bone loss, vertebral fractures and susceptibility to estrogen. Maturitas 41:193-201
27. Keen RW, Woodford-Richens KL, Grant SFA, Ralston JS, Lanchbury JS, Spector TD (1999) Association of polymorphism at the type I collagen (COLIA1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. Arthritis Rheum 42:285-290
28. Weichetova M, Stepan JJ, Michalska D, Haas T, Pols HA, Uitterlinden AG (2000) COLIA1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures. Bone 26:287-290
29. Duncan EL, Brown MA, Sinsheimer J, Bell J, Carr AJ, Wordsworth BP, Wass JA (1999) Suggestive linkage of the parathyroid receptor type I to osteoporosis. J Bone Miner Res 14:1993-1999
30. Gennari L, Becherini L, Masi L, Mansini R, Gonnelli S, Cepollaro C, Martini S, Montagnani A, Lentini AG, 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
31. Waters KM, Rickard DJ, Riggs BL, Koshla S, Katzenellenbogen JA, Katzenellenbogen BS, Moore J, Spelsperg TC (2001) Estrogen regulation of human osteoblast function is determined by the stage of differentiation and the estrogen receptor isoform. J Cell Biochem 83:448-462
32. Porter W, Saville B, Hoivic D, Safe S (1997) Functional synergy between the transcription factor Sp1 and the estrogen receptor. Mol Endocrinol 11:1569-1580