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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2012, Número 3

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Rev Invest Clin 2012; 64 (3)


Aspectos genéticos de la osteoporosis

Valdés-Flores M, Casas-Ávila L, Falcón-Ramírez E, Ponce-de-León-Suárez V

Idioma: Español
Referencias bibliográficas: 72
Paginas: 294-307
Archivo PDF: 183.36 Kb.


FRAGMENTO

CASO CLÍNICO
Mujer de 78 años de edad, soltera, ama de casa, sin antecedentes heredo-familiares de importancia, incluyendo historia familiar de fracturas. Refirió menarca a los 13 años, con ritmo regular hasta los 48, en los que se presentó menopausia natural; sin gestaciones, negó uso de anticonceptivos hormonales o terapia de reemplazo. Presentó tuberculosis pulmonar a los 30 años, se trató durante dos años con fármacos que no recordó, se negó diabética e hipertensa.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. NIH Consensus Development Panel On osteoporosis Prevention, Diagnosis and Therapy . Osteoporosis prevention, diagnosis, and therapy. JAMA 2001; 285: 785-95.

  2. Asociación mexicana de metabolismo óseo y mineral. Consenso Mexicano de osteoporosis. Rev Invest Clin 2001; 53: 469-95.

  3. World Health Organization. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis. Technical Report series 843 Genova: World Health Organization; 1994.

  4. Cole ZA, Dennison EM, Cooper C. Osteoporosis epidemiology update. Curr Rheumatol Rep 2008; 10(2): 92-6.

  5. Clark P, Cons-Molina F, Delezé M, et al. The Prevalence of radiographic vertebral fractures in Latin American countries. The Latin American Vertebral Osteoporosis. Study (LAVOS). Osteoporos Int 2009; 20: 275-82.

  6. Ismail AA, ONeill TW, Cooper C, Felsenberg D, Varlow J, Kanis JA, et al. Number and type of Vertebral Deformities Epidemiological Characteristics and relation to bake pain and height loss. Osteoporos Int 1999; 9(3): 206-13.

  7. Kanis JA, Melton LJ 3rd, Christiansen C, Johnston CC, Khaltaev N. The diagnosis of osteoporosis. J Bone Miner Res 1994; 9: 1137-41 [PubMed].

  8. Elliot V, Bogoch ER, Jamal SA, Beaton DE. Practice patterns in the diagnosis and treatment of osteoporosis after a fragility fracture: a systematic review. Osteoporos Int 2004; 15: 767-78.

  9. Ferrari S. Human genetics of osteoporosis. Best Pract Res Clin Endocrinol Metab 2008; 22: 723-35.

  10. Stuart H. Ralston and Benoit de Crombrugghe. Genetic regulation of bone mass and susceptibility to osteoporosis. Genes Dev 2006; 20: 2492-506.

  11. Williams FM, Spector TD. Recent advances in the genetics of osteoporosis. J Musculoeskelet 2006; 6(1): 27-35.

  12. Ralston SH, de Crombrugghe B. Genetic regulation of bone mass and susceptibility to osteoporosis. Genes and Dev 2006; 20: 2492-2506.

  13. Ralston SH. Genetic control of susceptibility to osteoporosis. J Clin Endocrinol Metab 2002; 87: 2460-6. Doi: 10.1210/ jc.87.6.2460 [PubMed] [Cross Ref.].

  14. Slemenda CW, Tuner CH. The genetics of proximal femur geometry, distribution of bone mass and bone mineral density. Osteoporos Int 2000; 6: 178-82.

  15. Arden NK, Baker J, Hogg C. The heredability of bone mineral density, ultrasound of the calcaneus and hip axis legth: a study postmenopausal twins. J Bone Miner Res1996; 11: 530-4.

  16. Steppan CM, Crawford DT, Chidsey-Frink KL, Ke HZ, Swick AG. Leptin is a potent stimulator of growth in ob/ob mice. Regulatory Peptides 2000; 92: 1-3, 73-8.

  17. Jie-mei GU, Wen-Jin X, Jin-Wei H, Hao Z, Wei-wei H, Yun-qiu H, et al. Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families. Act Pharmacologica Sinica 2009; 30: 1634-42.

  18. Mariani F, Brandi ML. Genetic Determinant of osteoporosis: Common bases to cardiovascular diseases? Inter J Hypertension 2010: pii 394579.

  19. Xiong DH, Shen H, Zhao LJ, Xiao P, Yang TL, Guo Y, et al. 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 2006; 21(11): 1678-95.

  20. Ongphiphadhanakul B, Chanprasertyothin S, Payattikul P, Saetung S, Piaseu N, Chailurkit L, Rajatanavin R. Association of a G2014A transition in exon 8 of the estrogen receptor-alpha gene with postmenopausal osteoporosis. Osteoporos Int 2001; 12(12): 1015-9.

  21. Riancho JA, Zarrabeitia MT, Valero C, Sañudo C, Mijares V, González-Macías J. A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density. Eur J Endocrinol 2006; 155(1): 53-9.

  22. Gómez R, Magaña JJ, Cisneros B, Pérez-Salazar E, Faugeron S, Véliz D, et al. Association of the estrogen receptor alpha gene polymorphisms with osteoporosis in the Mexican population. Clin Genet 2007; 72(6): 574-81.

  23. Ongphiphadhanakul B, Rajatanavin R, Chanprasertyothin S, Piaseu N, Chailurkit L. Serum oestradiol and oestrogen-receptor gene polymorphism are associated with bone mineral density independently of serum testosterone in normal males. Clin Endocrinol 1998; 49(6): 803.

  24. Wang JT, Guo Y, Yang TL, Xu XH, Dong SS, Li M, et al. Polymorphisms in the estrogen receptor genes are associated with hip fractures in Chinese. Bone 2008; 43(5): 910-4.

  25. Kiel DP, Demissie S, Duppuis J, Lunetta KL, Murabito JM, Karasik D. Genome-wide association with bone mass and geometry in the Famingham Heart Study. BMC Medical Genetics 2007; 8(Supl. I): S14.

  26. Greendale GA, Chu J, Ferrell R, Randolph JF Jr, Johnston JM, Sowers MR. The association of bone mineral density with estrogen receptor gene polymorphisms. Am J Med 2006; 119(9 Suppl. 1): S79-S86.

  27. Massart F, Marini F, Bianchi G, Minisola S, Luisetto G, Pirazzoli A, et al. Age-specific effects of estrogen receptors’ polymorphisms on the bone traits in healthy fertile women: the BONTURNO study. Reprod Biol Endocrinol 2009; 22(7): 32.

  28. Limer KL, Pye SR, Thomson W, Boonen S, Borghs H, Vanderschueren D, et al; EMAS Study Group. Genetic variation in sex hormone genes influences heel ultrasound parameters in middle-aged and elderly men: results from the European Male Aging Study (EMAS). J Bone Miner Res 2009; 24(2): 314-23.

  29. Rivadeneira F, van Meurs JB, Kant J, Zillikens MC, Stolk L, Beck TJ, et al. Estrogen receptor beta (ESR2) polymorphisms in interaction with estrogen receptor alpha (ESR1) and insulinlike growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women. J Bone Miner Res 2006; 21(9): 1443-56.

  30. Shearman AM, Karasik D, Gruenthal KM, Demissie S, Cupples LA, Housman DE, Kiel DP. Estrogen receptor beta polymorphisms are associated with bone mass in women and men: the Framingham Study. J Bone Miner Res 2004; 19(5): 773-81.

  31. Ichikawa S, Koller DL, Peacock M, Johnson ML, Lai D, Hui SL, Johnston CC, et al. Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women. J Clin Endocrinol Metab 2005; 90(11): 5921.

  32. Chung HW, Seo JS, Hur SE, Kim HL, Kim JY, Jung JH, et al. Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women. J Hum Genet 2003; 48(5): 243-8.

  33. Ota N, Nakajima T, Nakazawa I, Suzuki T, Hosoi T, Orimo H, et al. A nucleotide variant in the promoter region of the interleukin- 6 gene associated with decreased bone mineral density. J Hum Genet 2001; 46(5): 267-72.

  34. Magaña JJ, Gómez R, Cisneros B, Casas L, Valdés-Flores M. Association of interleukin-6 gene polymorphisms with bone mineral density in Mexican women. Arch Med Res 2008; 39(6): 618-24.

  35. Bustamante M, Nogués X, Mellibovsky L, Agueda L, Jurado S, et al. Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women. Eur J Endocrinol 2007; 157(5): 677-84.

  36. Ferrari SL, Ahn-Luong L, Garnero P, Humphries SE, Greenspan SL. Two promoter polymorphisms regulating interleukin- 6 gene expression are associated with circulating levels of C-reactive protein and markers of bone resorption in postmenopausal women. J Clin Endocrinol Metab 2003; 88(1): 255-9.

  37. Bustamante M, Nogués X, Enjuanes A, Elosua R, García-Giralt N, Pérez-Edo L, et al. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteoporos Int 2007; 18(2): 235-43.

  38. Morrison N. Commentary: vitamin D receptor polymorphism and bone mineral density: effect size in Caucasians means detection is uncertain in small studies. Int J Epidemiol 2004; 33(5): 989-94.

  39. Uitterlinden AG, Weel AE, Burger H, Fang Y, van Duijn CM, Hofman A, et al. Interaction between the vitamin D receptor gene and collagen type Ialpha1 gene in susceptibility for fracture. J Bone Miner Res 2001; 16(2): 379-85.

  40. Pérez A, Ulla M, García B, Lavezzo M, Elías E, Binci M, et al. Genotypes and clinical aspects associated with bone mineral density in Argentine postmenopausal women. J Bone Miner Metab 2008; 26: 358-65.

  41. Moffett SP, Zmuda JM, Cauley JA, Ensrud KE, Hillier TA, Hochberg MC, et al. Association of the VDR translation star site polymorphism and fracture risk in older women. J Bone Mineral Res 2007; 22(5): 730-6.

  42. Mencej-Bedrac S, Prezelj J, Kocjan T, Teskac K, Ostanek B, Smelcer M, Marc J. The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density. J Mol Endocrinology 2009; 42: 239-47.

  43. Riancho JA, Zarrabeitia MT, Valero C, Sañudo C, Hernández JL, Amado JA, et al. Aromatase gene and osteoporosis: relationship of ten polymorphic loci with bone mineral density. Bone 2005; 36(5): 917-25.

  44. Mendoza N, Morón FJ, Vázquez F, Quereda F, Sáez ME, Martínez- Astorquiza T, et al. Weighting the effect of CYP19A gene in bone mineral density of postmenopausal women. Bone 2006; 38(6): 951-3.

  45. Riancho JA, Valero C, Naranjo A, Morales DJ, Sañudo C, Zarrabeitia MT. Identification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosis. J Clin Endocrinol Metab 2007; 92(2): 660-5.

  46. Riancho JA, Sañudo C, Valero C, Pipaón C, Olmos JM, Mijares V, et al. Association of the aromatase gene alleles with BMD: epidemiological and functional evidence. J Bone Miner Res 2009; 24(10): 1709-18.

  47. Hong X, Hsu YH, Terwedow H, Arguelles LM, Tang G, Liu X, et al. CYP19A1 polymorphisms are associated with bone mineral density in Chinese men. Hum Genet 2007; 121(3-4): 491-500.

  48. Vilariño-Güell C, Miles LJ, Duncan EL, Ralston SH, Compston JE, Cooper C, et al. PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton. Calcif Tissue Int 2007; 81(4): 270-8.

  49. Richards JB, Rivadeneira F, Inouye M, Pastinen TM, Soranzo N, Wilson SG, et al. Spector TD2008 bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 2008; 371: 1505-12.

  50. Paternoster L, Ohlsson C, Sayers A, Vandenput L, Lorentzon M, Evans DM, Tobias JH. OPG and RANK polymorphisms are both associated with cortical bone mineral density: findings from a metaanalysis of the Avon longitudinal study of parents and children and gothenburg osteoporosis and obesity determinants cohorts. J Clin Endocrinol Metab 2010; 95(8): 3940-8.

  51. García-Unzueta MT, Riancho JA, Zarrabeitia MT, Sañudo C, Berja A, Valero C, et al. Association of the 163A/G and 1181G/C osteoprotegerin polymorphism with bone mineral density. Horm Metab Res 2008; 40(3): 219-24.

  52. Kim JG, Kim JH, Lee DO, Kim H, Kim JY, Suh CS, et al. Changes in the serum levels of osteoprotegerin and soluble receptor activator for nuclear factor kappaB ligand after estrogen- progestogen therapy and their relationships with changes in bone mass in postmenopausal women. Menopause 2008; 15(2): 357-62.

  53. Lee YH, Woo JH, Choi SJ, Ji JD, Song GG. Associations between osteoprotegerin polymorphisms and bone mineral density: a meta-analysis. Mol Biol Rep 2010; 37(1): 227-34.

  54. Geng L, Yao ZW, Luo JY, Han LL, Lu Q. Association between Val80 polymorphism of the CYP19 gene, A163G polymorphism of the OPG gene and bone mineral density in post-menopausal Chinese women. Yi Chuan 2007; 29(11): 1345-50.

  55. Lee HJ, Kim SY, Koh JM, Bok J, Kim KJ, Kim KS, et al. Polymorphisms and haplotypes of integrinalpha1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans. Bone 2007; 41(6): 979-86.

  56. Stewart TL, Jin H, McGuigan FE, Albagha OM, Garcia-Giralt N, Bassiti A, et al. Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women. J Clin Endocrinol Metab 2006; 91(9): 3575-83.

  57. Jin H, Stewart TL, Hof RV, Reid DM, Aspden RM, Ralston S. A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture. J Bone Miner Res 2009; 24(3): 448-54.

  58. Falcón-Ramírez E, Casas-Avila L, Miranda A, Diez P, Castro C, Rubio J, et al. Sp1 polymorphism in collagen I alpha1 gene is associated with osteoporosis in lumbar spine of Mexican women. Mol Biol Rep 2010 [Epub ahead of print].

  59. Ermakov S, Malkin I, Kobyliansky E, Livshits G. Variation in femoral length is associated with polymorphisms in RUNX2 gene. Bone 2006; 38(2): 199-205.

  60. Lee HJ, Koh JM, Hwang JY, Choi KY, Lee SH, Park EK, et al. Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women. Calcif Tissue Int 2009; 84(6): 439-45.

  61. Vaughan T, Pasco JA, Kotowicz MA, Nicholson GC, Morrison NA. Alleles of RUNX2/CBFA1 gene are associated with diffe rences in bone mineral density and risk of fracture. J Bone Miner Res 2002; 17(8): 1527-34.

  62. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, et al. Multiple genetic loci for bone mineral density and fractures. N Engl J Med 2008; 358(22): 2355-65.

  63. Mencej S, Prezelj J, Kocijancic A, Ostanek B, Marc J. Association of TNFSF11 gene promoter polymorphisms with bone mineral density in postmenopausal women. Maturitas 2006; 55(3): 219-26.

  64. Mencej S, Albagha OM, Prezelj J, Kocjan T, Marc J. Tumour necrosis factor superfamily member 11 gene promoter polymorphisms modulate promoter activity and influence bone mineral density in postmenopausal women with osteoporosis. J Mol Endocrinol 2008; 40(6): 273-79.

  65. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, et al. New sequence variants associated with bone mineral density. Nat Genet 2009; 41: 15-7.

  66. Koh JM, Park BL, Kim DJ, Kim GS, Cheong HS, Kim TH, et al. Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women. Osteoporos Int 2007; 18(3): 323-31.

  67. Ichikawa S, Koller DL, Curry LR, Lai D, Xuei X, Edenberg HJ, et al. Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults. Calcif Tissue Int 2009; 84(2): 97-102.

  68. Hwang JY, Kim SY, Lee SH, Kim GS, Go MJ, et al. Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women. Osteoporos Int 2010; 21(5): 757-64.

  69. Deng HW, Mahaney MC, Williams JT, Li J, Conway T, Davies KM, et al. Relevance of the genes for bone mass variation to susceptibility to osteoporotic fractures and its implications to gene search for complex human diseases. Genet Epidemiol 2002; 22: 12-25. Doi: 10.1002/gepi.1040 [PubMed].

  70. Spencer CCA, Su Z, Donnelly, Marchini J. Designing genomewide association studies: sample size, power, imputation, and the choise of genotyping chip. PLos Genetics 2009; 5: 1-13.

  71. Annie WC, Kung and Q-Y-Huang. Genetic and environmental determinants of osteoporosis. J Musculoskelet Neuronal Interact 2007; 7(1): 26-32.

  72. Dupont C, Randall AD, Brenner CA. Epigenetics: Definition, mechanisms and clinical perspective. Semin Reprod Med 2009; 27(5): 351-7.




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