Clin Osteol 2007; 12(1): 11-16
Genetic research in osteoporosis: perspectives and experimental basesReview articles
Keywords: osteoporosis, genetic methods, QTL, candidate genes
Published: June 11, 2007 Show citation
References
- Arden NK, Baker J, Hogg C, Baan K, Spector TD. The heritability of bone mine ral density, ultrasound of the calcaneus and hip axis length: A study of postmeno pausal twins. J Bone Miner Res 1996;11:530-534.
Go to original source... - Ng MY, Sham PC, Paterson AD, Chan V, Kung AV. Effect of environmental factors and gender on the heritability of bone mineral density and bone size. Ann Hum Genet 2006;70:428-38.
Go to original source... - Hunter D, de Lange M, Snieder H, MacGregor AJ, Swaminathan R, Thakker RV, Spector TD. Genetic contribution to bone metabolism, calcium excretion, and vi tamin D and parathyroid hormone regulation. J Bone Miner Res 2001;16:371-378.
Go to original source... - Kaprio J, Rimpela A, Winter T, Viken RJ, Rimpela M, Rose RJ. Common gene tic influences on BMI and age at menarche. Hum Biol 1995;67:739-753.
- Andrew T, Antioniades L, Scurrah KJ, MacGregor AJ, Spector TD. Risk of wrist fracture in women is heritable and is influenced by genes that are largely inde pendent of those influencing BMD. J Bone Miner Res 2005;20:67-74.
Go to original source... - Michaelsson K, Melhus H, Ferm H, Ahlbom A, Pedersen NL. Genetic liability to fractures in the elderly. Arch Intern Med 2005;165:1825-30.
Go to original source... - Balemans W, Van Wesenbeeck L, Van Hul W. A clinical and molecular overview of the human osteopetroses. Calcif. Tissue Int 2005;77:263-274.
Go to original source... - Ralston SH. Genetic determinants of osteoporosis. Curr Opin Rheumatol 2005;17:475-479.
Go to original source... - Sawcer SJ, Maranian M, Singlehurst S, Yeo T, Compston A, Daly MJ, De Jager PL, Gabriel S, Hafler DA, Ivinson AJ, Lander ES, Rioux JD, Walsh E, Gregory SG, Schmidt S, Pericak-Vance MA, Barcellos L, Hauser SL, Oksenberg JR, Kenealy SJ, Haines JL. Enhancing linkage analysis of complex disorders: An eva luation of high-density genotyping. Hum Mol Genet 2004;13:1943-1949.
Go to original source... - Karasik D, Myers RH, Cupples LA, Hannan MT, Gagnon DR, Herbert A, Kiel DP. Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: the Framingham Study. J Bone Miner Res 2002;17:1718-27.
Go to original source... - ffeacock M, Koller DL, Hui S, Johnston CC, Foroud T, Econs MJ. ffeak bone mi neral density at the hip is linked to chromosomes 14q and 15q. Osteoporos Int 2004;15:489-96.
Go to original source... - Xiao P, Shen H, Guo YF, Xiong DH, Liu YZ, Liu YJ, Zhao LJ, Long JR, Guo Y, Recker RR, Deng HW. Genomic regions identified for BMD in a large sample including epistatic interactions and gender-specific effects. J Bone Miner Res 2006;21:1536-44.
Go to original source... - Hsu YH, Xu X, Terwedow HA, Niu T, Hong X, Wu D, Wang L, Brain JD, Bouxsein ML, Cummings SR, Rosen CJ, Xu X. Large-Scale Genome-Wide Linkage Analysis for Loci Linked to BMD at Different Skeletal Sites in Extreme Selected Sibships. J Bone Miner Res 2007;22:184-94.
Go to original source... - Xu FH, Liu YJ, Deng H, Huang QY, Zhao LJ, Shen H, Liu YZ, Dvornyk V, Con way T, Li JL, Davies KM, Recker RR, Deng HW. A follow-up linkage study for bone size variation in an extended sample. Bone 2004;35:777-84.
Go to original source... - Mitchell BD, Cole SA, Bauer RL, Iturria SJ, Rodriguez EA, Blangero J, MacCluer JW, Hixson JE. Genes influencing variation in serum osteocalcin concentra tions are linked to markers on chromosomes 16q and 20q. J Clin Endocrinol Metab 2000;85:1362-6.
Go to original source... - Liu YZ, Liu YJ, Recker RR, Deng HW. Molecular studies of identification of ge nes for osteoporosis: the 2002 update. J Endocrinol 2003;177:147-96.
Go to original source... - Liu YJ, Shen H, Xiao P, Xiong DH, Li LH, Recker RR, Deng HW. Molecular ge netic studies of gene identification for osteoporosis: a 2004 update. J Bone Miner Res 2006;21:1511-35.
Go to original source... - Peacock M, Koller DL, Lai D, Hui S, Foroud T, Econs MJ. Sex-specific quantita tive trait loci contribute to normal variation in bone structure at the proximal fe mur in men. Bone 2005;37:467-73.
Go to original source... - 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, Dun can EL, Foroud T, Kiel DP, Koller D, Langdahl B, Mitchell BD, Peacock M, Rec ker R, Shen H, Sol-Church K, Spotila LD, Uitterlinden AG, Wilson SG, Kung AW, Ralston SH. Meta-analysis of genome-wide scans provides evidence for sexand site-specific regulation of bone mass. J Bone Miner Res 2007;22:173-83.
Go to original source... - Stewart TL, Ralston SH. Role of genetic factors in the pathogenesis of osteoporo sis. J Endocrinol 2000;166:235^5.
Go to original source... - Klein OF, Carlos AS, Vartanian KA, Chambers VK, Turner EJ, Phillips TJ, Belk nap JK, Orwoll ES. Confirmation and fine mapping of chromosomal regions in fluencing peak bone mass in mice. J Bone Miner Res 2001;16:1953-61.
Go to original source... - Koller DL, Schriefer J, Sun Q, Shultz KL, Donahue LR, Rosen CJ, Foroud T, Beamer WG, Turner CH. Genetic effects for femoral biomechanics, structure, and density in C57BL/6J and C3H/HeJ inbred mouse strains. J Bone Miner Res 2003;18:1758-65.
Go to original source... - Klein RF, Allard J, Avnur Z, Nikolcheva T, Rotstein D, Carlos AS, Shea M, Waters RV, Belknap JK, Peltz G, Orwoll ES. Regulation of bone mass in mice by the lipoxygenase gene Alox15. Science 2004;303:229-232.
Go to original source... - Ichikawa S, Koller DL, Johnson ML, Lai D, Xuei X, Edenberg HJ, Klein RF, Or woll ES, Hui SL, Foroud TM, Peacock M, Econs MJ. Human ALOX12, but not ALOX15, is associated with BMD in white men and women. J Bone Miner Res 2006;21:556-564.
Go to original source... - Volkman SK, Galecki AT, Burke DT, Miller RA, Goldstein SA Quantitative trait loci that modulate femoral mechanical properties in a genetically heterogeneous mouse population. J Bone Miner Res 2004;19:1497-505.
Go to original source... - Bouxsein ML, Uchiyama T, Rosen CJ, Shultz KL, Donahue LR, Turner CH, Sen S, Churchill GA, Muller R, Beamer WG. Mapping quantitative trait loci for ver tebral trabecular bone volume fraction and microarchitecture in mice. J Bone Miner Res 2004;19:587-99.
Go to original source... - Morrison NA, Qi JC, Tokita A, Kelly P, Crofts L, Nguyen TV, Sambrook PN, Eisman JA Prediction of bone density from vitamin D receptor alleles. Nature 1994;367:284-287.
Go to original source... - Thakkinstian A, D'Este C, Eisman J, Nguyen T, Attia J. Meta-analysis of mole cular association studies: vitamin D receptor gene polymorphisms and BMD as a case study. J Bone Miner Res 2004;19:419-28.
Go to original source... - Ralston SH, Uitterlinden AG, Brandi ML, Balcells S, Langdahl BL, Lips P, Lo renc R, Obermayer-Pietsch B, Scollen S, Bustamante M, Husted LB, Carey AH, Diez-Perez A, Dunning AM, Falchetti A, Karczmarewicz E, Kruk M, van Leeu wen JP, van Meurs JB, Mangion J, McGuigan FE, Mellibovsky L, del Monte F, Pols HA, Reeve J, Reid DM, Renner W, Rivadeneira F, van Schoor NM, Sherlock RE, Ioannidis JP; GENOMOS Investigators. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: The GENOMOS study. PLoS Med 2006;3:e90.
Go to original source... - Gennari L, Merlotti D, De Paola V, Calabro A, Becherini L, Martini G, Nuti R. Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review. Am J Epidemiol 2005;15:307-20.
Go to original source... - van Meurs JB, Rivadeneira F, Jhamai M, Hugens W, Hofman A, van Leeuwen JP, Pols HA, Uitterlinden AG. Common genetic variation of the low-density lipopro tein receptor-related protein 5 and 6 genes determines fracture risk in elderly white men. J. Bone Miner Res 2006;21:141-150.
Go to original source... - Uitterlinden AG, Arp PP, Paeper BW, Charmley P, Proll S, RivadeneiraF, Fang Y, van Meurs JB, Britschgi TB, Latham JA, Schatzman RC, Pols HA, Brunkow ME. Polymorphisms in the sclerosteosis/ van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. Am J Hum Genet 2004;75:1032-1045.
Go to original source... - Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML. Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women. Biochem Biophys Res Commun 1998;9:190-5.
Go to original source... - Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF. Polymorphisms in the trans forming growth factor _ 1 gene and osteoporosis. Bone 2003;32:297-310.
Go to original source... - Ramesh BL, Wilson SG, Dick IM, Islam FM, Devine A, Prince RL. Bone mass effects of a BMP4 gene polymorphism in postmenopausal women. Bone 2005; 36:555-561.
Go to original source... - Somner J, McLellan S, Cheung J, Mak YT, Frost ML, Knapp KM, Wierzbicki AS, Wheeler M, Fogelman I, Ralston SH, Hampson GN. Polymorphisms in the P450 c17 (17-hydroxylase/17,20-Lyase) and P450 c19 (aromatase) genes: association with serum sex steroid concentrations and bone mineral density in postmenopau sal women. J Clin Endocrinol Metab 2004;89:344-51.
Go to original source... - Ralston SH, de Crombrugghe B. Genetic regulation of bone mass and susceptibi lity to osteoporosis. Genes Dev 2006;15:2492-506.
Go to original source... - Zofkova I, Hill M, Zajickova K. Association of C/T polymorphism in the LRP5 gene with circulating follicle stimulating hormone in white postmenopausal women. Physiol Res 2006;6 (v tlači)
Go to original source... - Zofkova I, Zajickova K, Hill M, Vankova M. Role of intron 5 C/T polymorphism of the calcium sensing receptor gene in the regulation of the serum FSH and LH in post-menopausal women. J Endocrinol Invest 2005;28:638-42.
Go to original source... - Zajickova K, Zofkova I, Hill M. Vitamin D receptor polymorphisms, bone ultra sound and mineral density in post-menopausal women. Aging Clin Exp Res 2005;17:121-4.
Go to original source... - Weichetova M, Bohuslavova R, Skodova Z, J J, Adamkova V. No associations bet ween genetic polymorphisms of TGFss, PAI-1, and COL1A1, and bone mineral density in Caucasian females. Endocr Regul 2006;40:107-12.
- Omelka R, Martiniaková M, Krajčovičová V, Galbavý D, Bauerová M. Variabili ty in the ESR and CALCR genes in Slovak postmenopausal women and its asso ciations with bone mineral density, bone-related biochemical markers and fractu re incidence. Am J Phys Anthropol 2007 (v tlači)
- Omelka R, Krajčovičová V, Galbavý D, Martiniaková M, Bauerová M. Effects of the estrogen receptor, calcitonin receptor and osteoprotegerin genes on bone mineral density, bone-related biochemical markers and fracture incidence in Slo vak postmenopausal women. Calcif Tissue Int 2007 (v tlači)
- Uitterlinden AG, Weel AE, Burger H, Fang Y, van Duijn CM, Hofman A, van Leeuwen JP, Pols HA Interaction between the vitamin D receptor gene and collagen type Ialpha1 gene in susceptibility for fracture. J Bone Miner Res 2001;16:379-85.
Go to original source... - Rivadeneira F, van Meurs JB, Kant J, Zillikens MC, Stolk L, Beck TJ, Arp P, Schuit SC, Hofman A, Houwing-Duistermaat JJ, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG. Estrogen receptor beta (ESR2) polymorphisms in in teraction with estrogen receptor alpha (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women. J Bone Miner Res 2006;21:1443-56.
Go to original source... - Walsh CA, Birch MA, Fraser WD, Ginty AF, Gallagher JA Cytokine expression by cultured osteoblasts from patients with osteoporotic fractures. Int J Exp Pathol 2000;81:159-63.
Go to original source... - Liu YZ, Dvornyk V, Lu Y, Shen H, Lappe JM, Recker RR, Deng HW. A novel pa thophysiological mechanism for osteoporosis suggested by an in vivo gene ex pression study of circulating monocytes. J Biol Chem 2005;12:29011-6.
Go to original source... - Dvornyk V, Recker RR, Deng HW. Gene expression studies of osteoporosis: im plications for microarray research. Osteoporos Int 2003;14:451-61.
Go to original source... - Power RA, Iwaniec UT, Wronski TJ. Changes in gene expression associated with the bone anabolic effects of basic fibroblast growth factor in aged ovariectomized rats. Bone 2002;31:143-8.
Go to original source...

