• 1
    Eisman JA 1999 Genetics of osteoporosis. Endocr Rev 20:788804.
  • 2
    Karasik D, Myers RH, Cupples LA, Hannan MT, Gagnon DR, Herbert A, Kiel DP 2002 Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: The Framingham Study. J Bone Miner Res 17:17181727.
  • 3
    Sowers MR, Boehnke M, Jannausch ML, Crutchfield M, Corton G, Burns TL 1992 Familiality and partitioning the variability of femoral bone mineral density in women of child-bearing age. Calcif Tissue Int 50:110114.
  • 4
    Krall EA, Dawson-Hughes B 1993 Heritable and life-style determinants of bone mineral density. J Bone Miner Res 8:19.
  • 5
    Gueguen R, Jouanny P, Guillemin F, Kuntz C, Pourel J, Siest G 1995 Segregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res 10:20172022.
  • 6
    Duncan EL, Cardon LR, Sinsheimer JS, Wass JA, Brown MA 2003 Site and gender specificity of inheritance of bone mineral density. J Bone Miner Res 18:15311538.
  • 7
    Spelsberg TC, Subramaniam M, Riggs BL, Khosla S 1999 The actions and interactions of sex steroids and growth factors/cutokines on the skeleton. Mol Endocrinol 13:819828.
  • 8
    Josse RG 1996 Prevention and management of osteoporosis: Consensus statements from the Scientific Advisory Board of the Osteoporosis Society of Canada. 3. Effects of ovarian hormone therapy on skeletal and extraskeletal tissues in women. Can Med Assoc J 155:929934.
  • 9
    Greendale GA, Edelstein S, Barrett-Connor E 1997 Endogenous sex steroids and bone mineral density in older women and men: The Rancho Bernardo Study. J Bone Miner Res 12:18331843.
  • 10
    Ongphiphadhanakul B, Rajatanavin R, Chanprasertyothin S, Piaseu N, Chailurkit L 1998 Serum oestradiol and oestrogen-receptor gene polymorphism are associated with bone mineral density independently of serum testosterone in normal males. Clin Endocrinol (Oxf) 49:803809.
  • 11
    Grumbach MM 2000 Estrogen, bone, growth and sex: A sea change in conventional wisdom. J Pediatr Endocrinol Metab 13:14391455.
  • 12
    Khosla S 2002 Oestrogen, bones and men: When testosterone just isn't enough. Clin Endocrinol (Oxf) 56:291293.
  • 13
    Braidman IP, Hainey L, Batra G, Selby PL, Saunders PT, Hoyland JA 2001 Localization of estrogen receptor beta protein expression in adult human bone. J Bone Miner Res 16:214220.
  • 14
    Batra GS, Hainey L, Freemont AJ, Andrew G, Saunders PT, Hoyland JA, Braidman IP 2003 Evidence for cell-specific changes with age in expression of oestrogen receptor (ER) alpha and beta in bone fractures from men and women. J Pathol 200:6573.
  • 15
    Windahl SH, Vidal O, Andersson G, Gustafsson JA, Ohlsson C 1999 Increased cortical bone mineral content but unchanged trabecular bone mineral density in female ERbeta(−/−) mice. J Clin Invest 104:895901.
  • 16
    Vidal O, Lindberg MK, Hollberg K, Baylink DJ, Andersson G, Lubahn DB, Mohan S, Gustafsson JA, Ohlsson C 2000 Estrogen receptor specificity in the regulation of skeletal growth and maturation in male mice. Proc Natl Acad Sci USA 97:54745479.
  • 17
    Lindberg MK, Alatalo SL, Halleen JM, Mohan S, Gustafsson JA, Ohlsson C 2001 Estrogen receptor specificity in the regulation of the skeleton in female mice. J Endocrinol 171:229236.
  • 18
    Ogawa S, Inoue S, Watanabe T, Hiroi H, Orimo A, Hosoi T, Ouchi Y, Muramatsu M 1998 The complete primary structure of human estrogen receptor beta (hER beta) and its heterodimerization with ER alpha in vivo and in vitro. Biochem Biophys Res Commun 243:122126.
  • 19
    Hall JM, McDonnell DP 1999 The estrogen receptor beta-isoform (ERbeta) of the human estrogen receptor modulates ERalpha transcriptional activity and is a key regulator of the cellular response to estrogens and antiestrogens. Endocrinology 140:55665578.
  • 20
    Onoe Y, Miyaura C, Ohta H, Nozawa S, Suda T 1997 Expression of estrogen receptor beta in rat bone. Endocrinology 138:45094512.
  • 21
    Lim SK, Won YJ, Lee HC, Huh KB, Park YS 1999 A PCR analysis of ERalpha and ERbeta mRNA abundance in rats and the effect of ovariectomy. J Bone Miner Res 14:11891196.
  • 22
    Pettersson K, Delaunay F, Gustafsson JA 2000 Estrogen receptor beta acts as a dominant regulator of estrogen signaling. Oncogene 19:49704978.
  • 23
    Lindberg MK, Moverare S, Skrtic S, Gao H, Dahlman-Wright K, Gustafsson JA, Ohlsson C 2003 Estrogen receptor (ER)-beta reduces ERalpha-regulated gene transcription, supporting a “ying yang” relationship between ERalpha and ERbeta in mice. Mol Endocrinol 17:203208.
  • 24
    Sano M, Inoue S, Hosoi T, Ouchi Y, Emi M, Shiraki M, Orimo H 1995 Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis. Biochem Biophys Res Commun 217:378383.
  • 25
    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 11:306311.
  • 26
    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 polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet 9:20432050.
  • 27
    Albagha OM, McGuigan FE, Reid DM, Ralston SH 2001 Estrogen receptor alpha gene polymorphisms and bone mineral density: Haplotype analysis in women from the United Kingdom. J Bone Miner Res 16:128134.
  • 28
    Sapir-Koren R, Livshits G, Landsman T, Kobyliansky E 2001 Bone mineral density is associated with estrogen receptor gene polymorphism in men. Anthropol Anz 59:343353.
  • 29
    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 17:20482060.
  • 30
    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 269:537541.
  • 31
    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 31:276281.
  • 32
    Arko B, Prezelj J, Komel R, Kocijancic A, Marc J 2002 No major effect of estrogen receptor beta gene RsaI polymorphism on bone mineral density and response to alendronate therapy in postmenopausal osteoporosis. J Steroid Biochem Mol Biol 81:147152.
  • 33
    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 86:25622568.
  • 34
    Cummings SR, Browne RWS, Bauer D, Stone K, Ensrud K, Jamal S, Ettinger B 1998 Endogenous hormones and the risk of hip and vertebral fractures among older women. Study of Osteoporotic Fractures Research Group. N Engl J Med 339:733738.
  • 35
    Legrand E, Hedde C, Gallois Y, Degasne I, de Casson Boux F, Mathieu E, Basle MF, Chappard D, Audran M 2001 Osteoporosis in men: A potential role for the sex hormone binding globulin. Bone 29:9095.
  • 36
    Pugeat M, Crave JC, Tourniaire J, Forest MG 1996 Clinical utility of sex hormone-binding globulin measurement. Horm Res 45:148155.
  • 37
    Khosla S, Melton LJ III, Riggs BL 2002 Clinical review 144: Estrogen and the male skeleton. J Clin Endocrinol Metab 87:14431450.
  • 38
    Amin S, Zhang Y, Sawin CT, Evans SR, Hannan MT, Kiel DP, Wilson PW, Felson DT 2000 Association of hypogonadism and estradiol levels with bone mineral density in elderly men from the Framingham study. Ann Intern Med 133:951963.
  • 39
    Kannel WB, Feinleib M, McNamara PM, Garrison RJ, Castelli WP 1979 An investigation of coronary heart disease in families. The Framingham offspring study. Am J Epidemiol 110:281290.
  • 40
    Hannan MT, Felson DT, Anderson JJ 1992 Bone mineral density in elderly men and women: Results from the Framingham osteoporosis study. J Bone Miner Res 7:547553.
  • 41
    Hannan MT, Felson DT, Dawson-Hughes B, Tucker KL, Cupples LA, Wilson PW, Kiel DP 2000 Risk factors for longitudinal bone loss in elderly men and women: The Framingham Osteoporosis Study. J Bone Miner Res 15:710720.
  • 42
    Jordan B, Charest A, Dowd JF, Blumenstiel JP, Yeh RRF, Osman A, Housman DE, Landers JE 2002 Genome complexity reduction for SNP genotyping analysis. Proc Natl Acad Sci USA 99:29422947.
  • 43
    Zee RY, Myers RH, Hannan MT, Wilson PW, Ordovas JM, Schaefer EJ, Lindpaintner K, Kiel DP 2000 Absence of linkage for bone mineral density to chromosome 12q12–14 in the region of the vitamin D receptor gene. Calcif Tissue Int 67:434439.
  • 44
    Malkin I, Karasik D, Livshits G, Kobyliansky E 2002 Modelling of age-related bone loss using cross-sectional data. Ann Hum Biol 29:256270.
  • 45
    Michels KB, Greenland S, Rosner BA 1998 Does body mass index adequately capture the relation of body composition and body size to health outcomes?. Am J Epidemiol 147:167172.
  • 46
    Felson DT, Kiel DP, Anderson JJ, Kannel WB 1988 Alcohol consumption and hip fractures: The Framingham Study. Am J Epidemiol 128:11021110.
  • 47
    Kiel DP, Felson DT, Hannan MT, Anderson JJ, Wilson PW 1990 Caffeine and the risk of hip fracture: The Framingham Study. Am J Epidemiol 132:675684.
  • 48
    Rimm EB, Giovannucci EL, Stampfer MJ, Colditz GA, Litin LB, Willett WC 1992 Reproducibility and validity of an expanded self-administered semiquantitative food frequency questionnaire among male health professionals. Am J Epidemiol 135:11141136.
  • 49
    Willett WC, Sampson L, Stampfer MJ, Rosner B, Bain C, Witschi J, Hennekens CH, Speizer FE 1985 Reproducibility and validity of a semiquantitative food frequency questionnaire. Am J Epidemiol 122:5165.
  • 50
    Washburn RA, Smith KW, Jette AM, Janney CA 1993 The Physical Activity Scale for the Elderly (PASE): Development and evaluation. J Clin Epidemiol 46:153162.
  • 51
    Kiel DP, Baron JA, Anderson JJ, Hannan MT, Felson DT 1992 Smoking eliminates the protective effect of oral estrogens on the risk for hip fracture among women. Ann Intern Med 116:716721.
  • 52
    Lewontin RC 1964 The interaction of selection and linkage. I. General considerations: Heterotic models. Genetics 49:4967.
  • 53
    Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA 2002 Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70:425434.
  • 54
    Comings DE 1998 Polygenic inheritance and micro/minisatellites. Mol Psychiatry 3:2131.
  • 55
    Enmark E, Gustafsson JA 1999 Oestrogen receptors—an overview. J Intern Med 246:133138.
  • 56
    Rothenburg S, Koch-Nolte F, Rich A, Haag F 2001 A polymorphic dinucleotide repeat in the rat nucleolin gene forms Z-DNA and inhibits promoter activity. Proc Natl Acad Sci USA 98:89858990.
  • 57
    Reid IR, Evans MC, Ames R, Wattie DJ 1991 The influence of osteophytes and aortic calcification on spinal mineral density in postmenopausal women. J Clin Endocrinol Metab 72:13721374.
  • 58
    Orwoll ES, Oviatt SK, Mann T 1990 The impact of osteophytic and vascular calcifications on vertebral mineral density measurements in men. J Clin Endocrinol Metab 70:12021207.
  • 59
    Orwoll ES, Belknap JK, Klein RF 2001 Gender specificity in the genetic determinants of peak bone mass. J Bone Miner Res 16:19621971.
  • 60
    Karasik D, Cupples LA, Hannan MT, Kiel DP 2003 Age, gender, and body mass effects on quantitative trait loci for bone mineral density: The Framingham Study. Bone 33:308316.
  • 61
    McGuigan FE, Murray L, Gallagher A, Davey-Smith G, Neville CE, Van't Hof R, Boreham C, Ralston SH 2002 Genetic and environmental determinants of peak bone mass in young men and women. J Bone Miner Res 17:12731279.
  • 62
    Cardon LR, Palmer LJ 2003 Population stratification and spurious allelic association. Lancet 361:598604.
  • 63
    Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN 2003 Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33:177182.
  • 64
    Ogawa S, Inoue S, Watanabe T, Orimo A, Hosoi T, Ouchi Y, Muramatsu M 1998 Molecular cloning and characterization of human estrogen receptor beta: A potential inhibitor of estrogen action in humans. Nucleic Acids Res 26:35053512.
  • 65
    Majewski J, Ott J 2002 Distribution and characterization of regulatory elements in the human genome. Genome Res 12:18271836.
  • 66
    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 516:133138.
  • 67
    Comings DE, MacMurray JP 2000 Molecular heterosis: A review. Mol Genet Metab 71:1931.
  • 68
    Ushiyama T, Ueyama H, Inoue K, Nishioka J, Ohkubo I, Hukuda S 1998 Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol 25:134137.