KEGG   DISEASE: Osteoporosis
Entry
H01593                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H01593  Osteoporosis
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB83  Low bone mass disorders
    H01593  Osteoporosis
Related
pathway
hsa04380  Osteoclast differentiation
hsa04978  Mineral absorption
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa04933  AGE-RAGE signaling pathway in diabetic complications
Gene
PDLIM4 [HSA:8572] [KO:K23353]
CALCR [HSA:799] [KO:K04576]
COL1A1 [HSA:1277] [KO:K06236]
COL1A2 [HSA:1278] [KO:K06236]
(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]
Drug
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]
Other DBs
ICD-11: FB83.1
ICD-10: M80 M81 M82
MeSH: D010024
OMIM: 166710 601884 612560 613418 615221 615311 300910
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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