Genetics of osteoporosis

Wiener Medizinische Wochenschrift

Volumn 156, Issue 5-6, 2006, Pages 162-167

  Obermayer Pietsch, Barbara ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Bone; Complex diseases; Genetics; Osteoporosis; Polymorphisms

Indexed keywords

COLLAGEN ALPHA1 CHAIN; COLLAGEN TYPE 1; ESTROGEN RECEPTOR ALPHA; UNCLASSIFIED DRUG;

BONE DENSITY; BONE STRUCTURE; EPIDEMIOLOGICAL DATA; FAMILY STUDY; FRAGILITY FRACTURE; GENE LOCUS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; GENOME; GENOTYPE; HUMAN; LACTOSE INTOLERANCE; LINKAGE ANALYSIS; MULTIFACTORIAL GENETIC DISORDER; OSTEOLYSIS; OSTEOPOROSIS; REVIEW; TWINS;

AGED; BONE DENSITY; CHROMOSOME MAPPING; CROSS-SECTIONAL STUDIES; FEMALE; FRACTURES, SPONTANEOUS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; OSTEOPOROSIS; POLYMORPHISM, GENETIC; SPINAL FRACTURES;

EID: 33646000274     PISSN: 00435341     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10354-005-0249-2     Document Type: Review

References (37)

1. Smith DM, Nance WE, Kang KW, Christian JC, Johnston CC Jr (1973) Genetic factors in determining bone mass. J Clin Invest 52(11): 2800-2008
2. Seeman E, Hopper JL, Bach LA, Cooper ME, Parkinson E, McKay J, Jerums G (1989) Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 320(9): 554-558
3. Jones G, Nguyen TV. (2000) Associations between maternal peak bone mass and bone mass in prepubertal male and female children. J Bone Miner Res 15(10): 1998-2004
4. Arden NK, Baker J, Hogg C, Baan K, Spector TD (1996) The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: a study of postmenopausal twins. J Bone Miner Res 11(4): 530-534
5. Albagha OM, Pettersson U, Stewart A, McGuigan FE, MacDonald HM, Reid DM, Ralston SH (2005) Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone. J Med Genet 42(3): 240-246.
6. Mitchell BD, Cole SA, Bauer RL, Iturria SJ, Rodriguez EA, Blangero J, MacCluer JW, Hixson JE (2000) Genes influencing variation in serum osteocalcin concentrations are linked to markers on chromosomes 16q and 20q. J Clin Endocrinol Metab 85(4): 1362-1366
7. Arden NK, Spector TD (1997) Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. J Bone Miner Res 12(12): 2076-2081
8. Reed T, Dick DM (2003) Heritability and validity of healthy physical aging (wellness) in elderly male twins. Twin Res 6(3): 227-234
9. Towne B, Czerwinski SA, Demerath EW, Blangero J, Roche AF, Siervogel RM (2005) Heritability of age at menarche in girls from the Pels Longitudinal Study. Am J Phys Anthropol 128(1): 210-219
10. Murabito JM, Yang Q, Fox C, Wilson PW, Cupples LA (2005) Heritability of age at natural menopause in the Framingham Heart Study. Obstet Gynecol Surv 60(10): 656-657
11. Krall EA, Dawson-Hughes B (1993) Heritable and life-style determinants of bone mineral density. J Bone Miner Res 8(1): 1-9
12. Andrew T, Antioniades L, Scurrah KJ, Macgregor AJ, Spector TD (2005) Risk of wrist fracture in women is heritable and is influenced by genes that are largely independent of those influencing BMD. J Bone Miner Res 20(1): 67-74
13. Ioannidis JP, Ralston SH, Bennett ST, Brandi ML, Grinberg D, Karassa FB, Langdahl B, van Meurs JB, Mosekilde L, Scollen S, Albagha OM, Bustamante M, Carey AH, Dunning AM, Enjuanes A, van Leeuwen JP, Mavilia C, Masi L, McGuigan FE, Nogues X, Pols HA, Reid DM, Schuit SC, Sherlock RE, Uitterlinden AG; GENOMOS Study (2004) Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA 292(17): 2105-2114
14. Morrison NA, Qi JC, Tokita A, et al (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367: 284-287
15. Uitterlinden AG, Ralston SH, Brandi ML, Balcells S, Carey A, Langdahl B, Lips P, Lorenc R, Obermayer-Pietsch B, Reeve J, Reid DM, Basetti A, Bustamante M, Husted LB, Diez-Perez A, Dobnig H, Dunning A, Fahrleitner-Pammer A, Fang Y, Karczmarewicz E, Kruk M, van Leeuwen J, Mavilia C, van Meurs JBJ, Mangion J, McGuigan F, Mellibovsky L, del Monte F, Pols HAP, Renner W, Rivadeneira F, van Schoor N, Scollen S, Sherlock R, Ioannidis J (2005) Large-scale analysis of association between common vitamin D receptor gene variations and osteoporosis: The GENOMOS Study. J Bone Miner Res, in press
16. Abrams SA, Griffin IJ, Hawthorne KM, Chen Z, Gunn SK, Wilde M, Darlington G, Shypailo RJ, Ellis KJ (2005) Vitamin D receptor Fok1 polymorphisms affect calcium absorption, kinetics, and bone mineralization rates during puberty. J Bone Miner Res 20(6): 945-953
17. Obermayer-Pietsch BM, Lange U, Tauber G, Fruhauf G, Fahrleitner A, Dobnig H, Hermann J, Aglas F, Teichmann J, Neeck G, Leb G (2003) Vitamin D receptor initiation codon polymorphism, bone density and inflammatory activity of patients with ankylosing spondylitis. Osteoporos Int 14(12): 995-1000
18. Dawson-Hughes B, Harris SS, Finneran S (1995) Calcium absorption on high and low calcium intakes in relation to vitamin D receptor genotype. J Clin Endocrinol Metab 80(12): 3657-3661
19. Kurabayashi T, Tomita M, Matsushita H, Yahata T, Honda A, Takakuwa K, Tanaka K (1999) Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women. Am J Obstet Gynecol 180(5): 1115-1120
20. Palomba S, Orio F Jr, Russo T, Falbo A, Tolino A, Manguso F, Nunziata V, Mastrantonio P, Lombardi G, Zullo F (2005) BsmI vitamin D receptor genotypes influence the efficacy of antiresorptive treatments in postmenopausal osteoporotic women. A 1-year multicenter, randomized and controlled trial. Osteoporos Int 16(8): 943-952
21. Uitterlinden AG, Burger H, Huang Q, Yue F, McGuigan FE, Grant SF, Hofman A, van Leeuwen JP, Pols HA, Ralston SH (1998) Relation of alleles of the collagen type Ialpha 1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338(15): 1016-1021
22. Mann V, Hobson EE, Li B, Stewart TL, Grant SF, Robins SP, Aspden RM, Ralston SH (2001) A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 107(7):899-907
23. Mann V, Ralston SH (2003) Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone 32(6): 711-717
24. Ralston SH, Uitterlinden AG, Brandi ML, Balcells S, Langdahl B, Lips P, Lorenc R, Obermayer-Pietsch B, Scollen S, Bustamante M, Husted LB, Carey A, Diez-Perez A, Dunning AM, Falchetti A, Karczmarewicz E, Kruk M, van Leeuwen J, van Meurs JBJ, Mangion J, McGuigan F, Mellibovsky L, del Monte F, Pols HAP, Reeve J, Reid DM, Renner W, Rivadeneira F, van Schoor N, Sherlock R, Ioannidis J, for the GENOMOS Study (2005) Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: The GENOMOS Study. JAMA, in press
25. Riancho JA, Zarrabeitia MT, Valero C, Sanudo C, Hernandez JL, Amado JA, Zarrabeitia A, Gonzalez-Macias J (2005) Aromatase gene and osteoporosis: relationship of ten polymorphic loci with bone mineral density. Bone 36(5): 917-925
26. Yamada Y, Ando F, Niino N, Shimokata H (2005) Association of polymorphisms of the androgen receptor and klotho genes with bone mineral density in Japanese women. J Mol Med 83(1): 50-57
27. Napoli N, Villareal DT, Mumm S, Halstead L, Sheikh S, Cagaanan M, Rini GB, Armamento-Villareal R (2005) Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density. J Bone Miner Res 20(2): 232-239
28. Abrahamsen B, Madsen JS, Tofteng CL, Stilgren L, Bladbjerg EM, Kristensen SR, Brixen K, Mosekilde L (2005) Are effects of MTHFR (C677T) genotype on BMD confined to women with low folate and riboflavin intake? Analysis of food records from the Danish osteoporosis prevention study. Bone 36(3): 577-583
29. Moffett SP, Zmuda JM, Oakley JI, Beck TJ, Cauley JA, Stone KL, Lui LY, Ensrud KE, Millier TA, Hochberg MC, Morin P, Peltz G, Greene D, Cummings SR (2005) Tumor necrosis factor-alpha polymorphism, bone strength phenotypes, and the risk of fracture in older women. J Clin Endocrinol Metab 90(6): 3491-3497
30. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I (2002) Identification of a variant associated with adult-type hypolactasia. Nat Genet 30(2):233-7.
31. Vesa TH, Marteau P, Korpela R (2000) Lactose intolerance. J Am Coll Nutr 19: 165S-175S
32. Obermayer-Pietsch BM, Bonelli CM, Walter DE, Kuhn RJ, Fahrleitner-Pammer A, Berghold A, Goessler W, Stepan V, Dobnig H, Leb G, Renner W (2004) Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures. J Bone Miner Res 19(1): 42-47
33. Högenauer C, Hammer HF, Mellitzer K, Renner W, Krejs GJ, Toplak H (2005) Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase non-persistence. Eur J Gastroenterol Hepatol 17(3): 371-376
34. Kuokkanen M, Enattah NS, Oksanen A, Savilahti E, Orpana A, Jarvela I (2003) Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut 52(5): 647-652
35. Obermayer-Pietsch BM, Bonelli CM, Walter DE, Kühn R, Fahrleitner-Pammer A, Berghold A, Goessler W, Stepan V, Dobnig H, Leb G, Renner W (2004) Genetic disposition for adult lactose intolerance and relation to bone properties and fractures during lifetime. Calcif Tiss Int 74: 128
36. Enattah NS, Sulkava R, Halonen P, Kontula K, Jarvela I (2005) Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age. J Am Geriatr Soc 53(1): 79-82
37. Enattah N, Pekkarinen T, Valimaki MJ, Loyttyniemi E, Jarvela I (2005) Genetically defined adult-type hypolactasia and self-reported lactose intolerance as risk factors of osteoporosis in Finnish postmenopausal women. Eur J Clin Nutr, 59(10): 1105-1111