H01593 | |
H number | H01593 |
Name | Osteoporosis |
Description | Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values fall progressively with age, the prevalence of osteoporosis increases with age. It has been estimated that approximately 50% of all women will have osteoporosis by the age of 80. Studies in twins and families indicate that genetic factors play an important role in the regulation of BMD and other determinants of osteoporotic fracture risk. Osteoporosis is a polygenic disorder, determined by the effects of several genes, each with relatively modest effects. Population-based studies and case-control studies have similarly identified polymorphisms in several candidate genes that have been associated with bone mass or osteoporotic fracture, including the vitamin D receptor, oestrogen receptor and collagen gene. Bisphosphonates, and in some patients denosumab, are first-line drugs for osteoporosis. |
Category | Musculoskeletal disease |
Network | nt06505(H01593) WNT signaling |
Gene | (BMND1) LRP5 [HSA:4041] [KO:K03068] (BMND12) UGT2B17 [HSA:7367] [KO:K00699] (BMND15) MIR2861 [HSA:100422910] (BMND16) WNT1 [HSA:7471] [KO:K03209] (BMND17) LGR4 [HSA:55366] [KO:K04309] (BMND18) PLS3 [HSA:5358] [KO:K17336] PDLIM4 [HSA:8572] [KO:K23353] CALCR [HSA:799] [KO:K04576] COL1A1 [HSA:1277] [KO:K06236] COL1A2 [HSA:1278] [KO:K06236] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Oxandrolone [DR:D00462] Estradiol [DR:D00105] Conjugated estrogens and bazedoxifene acetate [DR:D10579] Estradiol and levonorgestrel [DR:D09187] Raloxifene hydrochloride [DR:D02217] Teriparatide [DR:D06078] Abaloparatide [DR:D10885] Calcitonin salmon [DR:D00249] Alendronate sodium [DR:D00939] Ibandronate sodium [DR:D04486] Risedronate sodium [DR:D00942] Sodium risedronate hydrate [DR:D03234] Risedronate sodium monohydrate [DR:D11570] Zoledronic acid [DR:D01968] Alendronic acid and colecalciferol [DR:D10841] Denosumab [DR:D03684] Romosozumab [DR:D10156] |
Comment | - |
Other DBs | ICD-11: FB83.1 ICD-10: M80 M81 M82 MeSH: D010024 OMIM: 166710 601884 612560 613418 615221 615311 300910 |
Reference | PMID:10927613 AUTHORS Stewart TL, Ralston SH TITLE Role of genetic factors in the pathogenesis of osteoporosis. JOURNAL J Endocrinol 166:235-45 (2000) DOI:10.1677/joe.0.1660235 PMID:26194148 AUTHORS Noordin S, Glowacki J TITLE Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing. JOURNAL Rheumatol Int 36:1-6 (2016) DOI:10.1007/s00296-015-3319-9 PMID:19760059 AUTHORS Saito M, Marumo K TITLE Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus. JOURNAL Osteoporos Int 21:195-214 (2010) DOI:10.1007/s00198-009-1066-z PMID:12908099 (PDLIM4) AUTHORS Omasu F, Ezura Y, Kajita M, Ishida R, Kodaira M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Orimo H, Emi M TITLE Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women. JOURNAL J Hum Genet 48:342-5 (2003) DOI:10.1007/s10038-003-0035-1 PMID:9675109 (CALCR) AUTHORS Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML TITLE Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women. JOURNAL Biochem Biophys Res Commun 248:190-5 (1998) DOI:10.1006/bbrc.1998.8880 PMID:8841196 (COL1A1) AUTHORS Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH TITLE Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. JOURNAL Nat Genet 14:203-5 (1996) DOI:10.1038/ng1096-203 PMID:2052622 (COL1A2) AUTHORS Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ TITLE Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. JOURNAL Proc Natl Acad Sci U S A 88:5423-7 (1991) DOI:10.1073/pnas.88.12.5423 PMID:14727154 (LRP5) AUTHORS Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K TITLE LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. JOURNAL J Hum Genet 49:80-6 (2004) DOI:10.1007/s10038-003-0111-6 PMID:18992858 (UGT2B17) AUTHORS Yang TL, Chen XD, Guo Y, Lei SF, Wang JT, Zhou Q, Pan F, Chen Y, Zhang ZX, Dong SS, Xu XH, Yan H, Liu X, Qiu C, Zhu XZ, Chen T, Li M, Zhang H, Zhang L, Drees BM, Hamilton JJ, Papasian CJ, Recker RR, Song XP, Cheng J, Deng HW TITLE Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. JOURNAL Am J Hum Genet 83:663-74 (2008) DOI:10.1016/j.ajhg.2008.10.006 PMID:19920351 (MIR2861) AUTHORS Li H, Xie H, Liu W, Hu R, Huang B, Tan YF, Xu K, Sheng ZF, Zhou HD, Wu XP, Luo XH TITLE A novel microRNA targeting HDAC5 regulates osteoblast differentiation in mice and contributes to primary osteoporosis in humans. JOURNAL J Clin Invest 119:3666-77 (2009) DOI:10.1172/JCI39832 PMID:23499310 (WNT1) AUTHORS Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH TITLE WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. JOURNAL Am J Hum Genet 92:590-7 (2013) DOI:10.1016/j.ajhg.2013.02.009 PMID:23644456 (LGR4) AUTHORS Styrkarsdottir U, Thorleifsson G, Sulem P, Gudbjartsson DF, Sigurdsson A, Jonasdottir A, Jonasdottir A, Oddsson A, Helgason A, Magnusson OT, Walters GB, Frigge ML, Helgadottir HT, Johannsdottir H, Bergsteinsdottir K, Ogmundsdottir MH, Center JR, Nguyen TV, Eisman JA, Christiansen C, Steingrimsson E, Jonasson JG, Tryggvadottir L, Eyjolfsson GI, Theodors A, Jonsson T, Ingvarsson T, Olafsson I, Rafnar T, Kong A, Sigurdsson G, Masson G, Thorsteinsdottir U, Stefansson K TITLE Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits. JOURNAL Nature 497:517-20 (2013) DOI:10.1038/nature12124 PMID:24088043 (PLS3) AUTHORS van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G TITLE PLS3 mutations in X-linked osteoporosis with fractures. JOURNAL N Engl J Med 369:1529-36 (2013) DOI:10.1056/NEJMoa1308223 |