• 1
    Ralston SH 2007 Genetics of osteoporosis Proc Nutr Soc 66: 158165.
  • 2
    Slemenda CW Christian JC Reed T Reister TK Williams CJ Johnston CC Jr 1992 Long-term bone loss in men: Effects of genetic and environmental factors Ann Intern Med 117: 286291.
  • 3
    Kannus P Palvanen M Kaprio J Parkkari J Koskenvuo M 1999 Genetic factors and osteoporotic fractures in elderly people: Prospective 25 year follow up of a nationwide cohort of elderly Finnish twins BMJ 319: 13341337.
  • 4
    Cohen-Solal ME Baudoin C Omouri M Kuntz D De Vernejoul MC 1998 Bone mass in middle-aged osteoporotic men and their relatives: Familial effect J Bone Miner Res 13: 19091914.
  • 5
    Orwoll ES Belknap JK Klein RF 2001 Gender specificity in the genetic determinants of peak bone mass J Bone Miner Res 16: 19621971.
  • 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
    Ioannidis JP Ng MY Sham PC Zintzaras E Lewis CM Deng HW Econs MJ Karasik D Devoto M Kammerer CM Spector T Andrew T Cupples LA Duncan EL Foroud T Kiel DP Koller D Langdahl B Mitchell BD Peacock M Recker R Shen H Sol-Church K Spotila LD Uitterlinden AG Wilson SG Kung AW Ralston SH 2007 Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass J Bone Miner Res 22: 173183.
  • 8
    Kaufman JM Vermeulen A 2005 The decline of androgen levels in elderly men and its clinical and therapeutic implications Endocr Rev 26: 833876.
  • 9
    Vermeulen A Kaufman JM Goemaere S Van Pottelbergh I 2002 Estradiol in elderly men Aging Male 5: 98102.
  • 10
    Goderie-Plomp HW van der Klift M de Ronde W Hofman A de Jong FH Pols HA 2004 Endogenous sex hormones, sex hormone-binding globulin, and the risk of incident vertebral fractures in elderly men and women: The Rotterdam Study J Clin Endocrinol Metab 89: 32613269.
  • 11
    Eriksson AL Lorentzon M Mellstrom D Vandenput L Swanson C Andersson N Hammond GL Jakobsson J Rane A Orwoll ES Ljunggren O Johnell O Labrie F Windahl SH Ohlsson C 2006 SHBG gene promoter polymorphisms in men are associated with serum sex hormone-binding globulin, androgen and androgen metabolite levels, and hip bone mineral density J Clin Endocrinol Metab 91: 50295037.
  • 12
    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: 17551759.
  • 13
    Khosla S Melton LJ III, Atkinson EJ O'Fallon WM Klee GG Riggs BL 1998 Relationship of serum sex steroid levels and bone turnover markers with bone mineral density in men and women: A key role for bioavailable estrogen J Clin Endocrinol Metab 83: 22662274.
  • 14
    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.
  • 15
    Carey AH Waterworth D Patel K White D Little J Novelli P Franks S Williamson R 1994 Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17 Hum Mol Genet 3: 18731876.
  • 16
    Zmuda JM Cauley JA Kuller LH Ferrell RE 2001 A common promotor variant in the cytochrome P450c17alpha (CYP17) gene is associated with bioavailability testosterone levels and bone size in men J Bone Miner Res 16: 911917.
  • 17
    Tofteng CL Abrahamsen B Jensen JE Petersen S Teilmann J Kindmark A Vestergaard P Gram J Langdahl BL Mosekilde L 2004 Two single nucleotide polymorphisms in the CYP17 and COMT 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 75: 123132.
  • 18
    Yamada Y Ando F Shimokata H 2005 Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men Genomics 86: 7685.
  • 19
    Xiong DH Shen H Zhao LJ Xiao P Yang TL Guo Y Wang W Guo YF Liu YJ Recker RR Deng HW 2006 Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction J Bone Miner Res 21: 16781695.
  • 20
    Miyaura C Toda K Inada M Ohshiba T Matsumoto C Okada T Ito M Shizuta Y Ito A 2001 Sex- and age-related response to aromatase deficiency in bone Biochem Biophys Res Commun 280: 10621068.
  • 21
    Morishima A Grumbach MM Simpson ER Fisher C Qin K 1995 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens J Clin Endocrinol Metab 80: 36893698.
  • 22
    Peacock M Koller DL Hui S Johnston CC Foroud T Econs MJ 2004 Peak bone mineral density at the hip is linked to chromosomes 14q and 15q Osteoporos Int 15: 489496.
  • 23
    Riancho JA 2007 Polymorphisms in the CYP19 gene that influence bone mineral density Pharmacogenomics 8: 339352.
  • 24
    Hogeveen KN Talikka M Hammond GL 2001 Human sex hormone-binding globulin promoter activity is influenced by a (TAAAA)n repeat element within an Alu sequence J Biol Chem 276: 3638336390.
  • 25
    Zarrabeitia MT Hernandez JL Valero C Zarrabeitia A Amado JA Gonzalez-Macias J Riancho JA 2007 Adiposity, estradiol, and genetic variants of steroid-metabolizing enzymes as determinants of bone mineral density Eur J Endocrinol 156: 117122.
  • 26
    Beilin J Ball EM Favaloro JM Zajac JD 2000 Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: Specificity in prostate and non-prostate cell lines J Mol Endocrinol 25: 8596.
  • 27
    Krithivas K Yurgalevitch SM Mohr BA Wilcox CJ Batter SJ Brown M Longcope C McKinlay JB Kantoff PW 1999 Evidence that the CAG repeat in the androgen receptor gene is associated with the age-related decline in serum androgen levels in men J Endocrinol 162: 137142.
  • 28
    Kenny AM McGee D Joseph C Covault J Abreu C Raisz LG 2005 Lack of association between androgen receptor polymorphisms and bone mineral density or physical function in older men Endocr Res 31: 285293.
  • 29
    Gennari L Merlotti D De Paola V Calabro A Becherini L Martini G Nuti R 2005 Estrogen receptor gene polymorphisms and the genetics of osteoporosis: A HuGE review Am J Epidemiol 161: 307320.
  • 30
    Lee D O'Neill T Pye S Silman A Finn J Pendleton N Tajar A Bartfai G Casanueva F Forti G Giwercman A Huhtaniemi I Kula K Punab M Vanderschueren D Boonen S Wu F The EMAS Study Group 2008 The European Male Ageing Study (EMAS): Design, methods and recruitment. Int J Androl (in press).
  • 31
    Jiang M Huhtaniemi IT 2004 Polymorphisms and male ageing. In: ChansonP, LambertsS, EpelbaumY, ChristensenK (eds.) Endocrine Aspects of Successful Aging: Genes, Hormones and Lifestyles (Research and Perspectives in Endocrine Interactions). Springer-Verlag, Berlin, Germany
  • 32
    Barrett JC Fry B Maller J Daly MJ 2005 Haploview: Analysis and visualization of LD and haplotype maps Bioinformatics 21: 263265.
  • 33
    Vermeulen A Verdonck L Kaufman JM 1999 A critical evaluation of simple methods for the estimation of free testosterone in serum J Clin Endocrinol Metab 84: 36663672.
  • 34
    Riancho JA Valero C Naranjo A Morales DJ Sanudo C Zarrabeitia MT 2007 Identification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosis J Clin Endocrinol Metab 92: 660665.
  • 35
    Grumbach MM Auchus RJ 1999 Estrogen: Consequences and implications of human mutations in synthesis and action J Clin Endocrinol Metab 84: 46774694.
  • 36
    Kershaw EE Flier JS 2004 Adipose tissue as an endocrine organ J Clin Endocrinol Metab 89: 25482556.
  • 37
    Gennari L Masi L Merlotti D Picariello L Falchetti A Tanini A Mavilia C Del MF Gonnelli S Lucani B Gennari C Brandi ML 2004 A polymorphic CYP19 TTTA repeat influences aromatase activity and estrogen levels in elderly men: Effects on bone metabolism J Clin Endocrinol Metab 89: 28032810.
  • 38
    Van Pottelbergh I Goemaere S Kaufman JM 2003 Bioavailable estradiol and an aromatase gene polymorphism are determinants of bone mineral density changes in men over 70 years of age J Clin Endocrinol Metab 88: 30753081.
  • 39
    Mendoza N Moron FJ Vazquez F Quereda F Saez ME Martinez-Astorquiza T Gonzalez-Perez A Sanchez-Borrego R Ruiz A 2006 Weighting the effect of CYP19A gene in bone mineral density of postmenopausal women Bone 38: 951953.
  • 40
    Gennari L Nuti R Bilezikian JP 2004 Aromatase activity and bone homeostasis in men J Clin Endocrinol Metab 89: 58985907.
  • 41
    Nedelcheva KV Haraldsen EK Anderson KB Lonning PE Erikstein B Karesen R Gabrielsen OS Borresen-Dale AL 1999 CYP17 and breast cancer risk: The polymorphism in the 5′ flanking area of the gene does not influence binding to Sp-1 Cancer Res 59: 28252828.
  • 42
    Xiong DH Shen H Zhao LJ Yang TL Guo Y Wang W Guo YF Liu YJ Recker RR Deng HW 2006 Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction J Bone Miner Res 21: 16781695.
  • 43
    Jurada S Marc J Prezelj J Kocijancic A Komel R 2001 Codon 325 sequence polymorphism of the estrogen receptor alpha gene and bone mineral density in postmenopausal women J Steroid Biochem Mol Biol 78: 1520.
  • 44
    Zmuda JM Cauley JA Kuller LH Zhang X Palermo L Nevitt MC Ferrell RE 2000 Androgen receptor CAG repeat length is associated with increased hip bone loss and vertebral fracture risk among older men J Bone Miner Res 15: S491
  • 45
    Zitzmann M Brune M Kornmann B Gromoll J Junker R Nieschlag E 2001 The CAG repeat polymorphism in the androgen receptor gene affects bone density and bone metabolism in healthy males Clin Endocrinol (Oxf) 55: 649657.
  • 46
    Joseph C Kenny AM 2005 CAG repeat polymorphism in relation to bone mass, metabolism, and fractures Endocrinologist 15: 2326.
  • 47
    Zarrabeitia A Zarrabeitia MT Valero C Gonzalez-Macias J Riancho JA 2004 Age-related influence of common aromatase gene polymorphisms on bone mass of healthy men Bone 35: 243248.
  • 48
    Valero C Zarrabeitia MT Hernandez JL Zarrabeitia A Gonzalez-Macias J Riancho JA 2005 Bone mass in young adults: Relationship with gender, weight and genetic factors J Intern Med 258: 554562.
  • 49
    Valimaki VV Piippo 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: 16331640.
  • 50
    Huhtaniemi IT Pye SR Limer KL Thomson W O'Neill TW Platt H Payne D John SL Jiang M Boonen S Borgh H Vanderschueren D Adams JE Ward KA Bartfai G Casanueva F Finn JD Forti G Giwercman A Han TS Kula K Lean MJ Pendleton N Punab M Silman AJ Wu FC The EMAS Study Group 2008 Increased estrogen, not decreased androgen action is associated with longer androgen receptor CAG repeats: Results from the European Male Aging Study (EMAS) J Clin Endocrinol Metab (in press).
  • 51
    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: 773781.
    Direct Link:
  • 52
    Gluer CC Eastell R Reid DM Felsenberg D Roux C Barkmann R Timm W Blenk T Armbrecht G Stewart A Clowes J Thomasius FE Kolta S 2004 Association of five quantitative ultrasound devices and bone densitometry with osteoporotic vertebral fractures in a population-based sample: The OPUS Study J Bone Miner Res 19: 782793.
    Direct Link:
  • 53
    Bauer DC Ewing SK Cauley JA Ensrud KE Cummings SR Orwoll ES 2007 Quantitative ultrasound predicts hip and non-spine fracture in men: The MrOS study Osteoporos Int 18: 771777.