KEGG   DISEASE: 骨粗鬆症
エントリ  
H01593                                                             

名称    
骨粗鬆症
概要    
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.
カテゴリ  
筋骨格疾患
階層分類  
ヒト疾患 [BR:jp08402]
 筋骨格疾患
  骨格疾患
   H01593  骨粗鬆症
ICD-11 による疾患分類 [BR:jp08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB83  Low bone mass disorders
    H01593  骨粗鬆症
関連パスウェイ
hsa04380  Osteoclast differentiation
hsa04978  Mineral absorption
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa04933  AGE-RAGE signaling pathway in diabetic complications
病因遺伝子 
PDLIM4 (polymorphism) [HSA:8572] [KO:K23353]
CALCR (polymorphism) [HSA:799] [KO:K04576]
COL1A1 (polymorphism) [HSA:1277] [KO:K06236]
COL1A2 (polymorphism) [HSA:1278] [KO:K06236]
LRP5 (polymorphism) [HSA:4041] [KO:K03068]
VDR (polymorphism) [HSA:7421] [KO:K08539]
TGFB1 (polymorphism) [HSA:7040] [KO:K13375]
PTH (polymorphism) [HSA:5741] [KO:K05261]
UGT2B17 (polymorphism) [HSA:7367] [KO:K00699]
MIR2861 (polymorphism) [HSA:100422910]
WNT1 (polymorphism) [HSA:7471] [KO:K03209]
LGR4 (polymorphism) [HSA:55366] [KO:K04309]
PLS3 (polymorphism) [HSA:5358] [KO:K17336]
治療薬   
テリパラチド酢酸塩 [DR:D03358]
テリパラチド [DR:D06078]
アバロパラチド酢酸塩 [DR:D11563]
メテノロン酢酸エステル [DR:D01375]
エストラジオール [DR:D00105]
エストリオール [DR:D00185]
テストステロンエナント酸エステル・吉草酸エストラジオール [DR:D04454]
エストラジオール・レボノルゲストレル [DR:D09187]
アルファカルシドール [DR:D01518]
カルシトリオール [DR:D00129]
エルデカルシトール [DR:D07578]
メナテトレノン [DR:D00100]
L-アスパラギン酸カルシウム水和物 [DR:D01598]
リン酸水素カルシウム水和物 [DR:D00937]
ラロキシフェン塩酸塩 [DR:D02217]
ラロキシフェン塩酸塩水和物 [DR:D10606]
バゼドキシフェン酢酸塩 [DR:D03062]
エルカトニン [DR:D03287]
エチドロン酸二ナトリウム [DR:D00314]
アレンドロン酸ナトリウム水和物 [DR:D00939]
イバンドロン酸ナトリウム水和物 [DR:D04486]
リセドロン酸ナトリウム水和物 [DR:D03234]
ゾレドロン酸水和物 [DR:D01968]
イプリフラボン [DR:D01338]
デノスマブ [DR:D03684]
ロモソズマブ [DR:D10156]
ミノドロン酸水和物 [DR:D09198]
リンク   
ICD-11: FB83.1
ICD-10: M80 M81 M82
MeSH: D010024
OMIM: 166710 603506 612560 613418 615220 615311 300910
文献    
  著者
Stewart TL, Ralston SH
  タイトル
Role of genetic factors in the pathogenesis of osteoporosis.
  雑誌
J Endocrinol 166:235-45 (2000)
DOI:10.1677/joe.0.1660235
文献    
  著者
Omasu F, Ezura Y, Kajita M, Ishida R, Kodaira M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Orimo H, Emi M
  タイトル
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.
  雑誌
J Hum Genet 48:342-5 (2003)
DOI:10.1007/s10038-003-0035-1
文献    
PMID:9675109
  著者
Masi L, Becherini L, Colli E, Gennari L, Mansani R, Falchetti A, Becorpi AM, Cepollaro C, Gonnelli S, Tanini A, Brandi ML
  タイトル
Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women.
  雑誌
Biochem Biophys Res Commun 248:190-5 (1998)
DOI:10.1006/bbrc.1998.8880
文献    
  著者
Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K
  タイトル
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
  雑誌
J Hum Genet 49:80-6 (2004)
DOI:10.1007/s10038-003-0111-6
文献    
  著者
Lau EM, Wong SY, Li M, Ma CH, Lim PL, Woo J
  タイトル
Osteoporosis and transforming growth factor-beta-1 gene polymorphism in Chinese men and women.
  雑誌
J Bone Miner Metab 22:148-52 (2004)
DOI:10.1007/s00774-003-0463-1
文献    
  著者
Noordin S, Glowacki J
  タイトル
Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing.
  雑誌
Rheumatol Int 36:1-6 (2016)
DOI:10.1007/s00296-015-3319-9
文献    
  著者
Saito M, Marumo K
  タイトル
Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus.
  雑誌
Osteoporos Int 21:195-214 (2010)
DOI:10.1007/s00198-009-1066-z
文献    
PMID:26010450 (drug)
  著者
Chen LX, Zhou ZR, Li YL, Ning GZ, Zhang TS, Zhang D, Feng SQ
  タイトル
Comparison of Bone Mineral Density in Lumbar Spine and Fracture Rate among Eight Drugs in Treatments of Osteoporosis in Men: A Network Meta-Analysis.
  雑誌
PLoS One 10:e0128032 (2015)
DOI:10.1371/journal.pone.0128032
文献    
PMID:27340321 (drug)
  著者
Gupta A, March L
  タイトル
Treating osteoporosis.
  雑誌
Aust Prescr 39:40-6 (2016)
DOI:10.18773/austprescr.2016.028
文献    
  著者
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
  タイトル
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis.
  雑誌
Am J Hum Genet 83:663-74 (2008)
DOI:10.1016/j.ajhg.2008.10.006
文献    
  著者
Li H, Xie H, Liu W, Hu R, Huang B, Tan YF, Xu K, Sheng ZF, Zhou HD, Wu XP, Luo XH
  タイトル
A novel microRNA targeting HDAC5 regulates osteoblast differentiation in mice and contributes to primary osteoporosis in humans.
  雑誌
J Clin Invest 119:3666-77 (2009)
DOI:10.1172/JCI39832
文献    
  著者
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
  タイトル
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
  雑誌
Am J Hum Genet 92:590-7 (2013)
DOI:10.1016/j.ajhg.2013.02.009
文献    
  著者
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
  タイトル
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
  雑誌
Nature 497:517-20 (2013)
DOI:10.1038/nature12124
文献    
  著者
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
  タイトル
PLS3 mutations in X-linked osteoporosis with fractures.
  雑誌
N Engl J Med 369:1529-36 (2013)
DOI:10.1056/NEJMoa1308223
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