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Osteoarthritis susceptibility 1(OS1)

MedGen UID:
854604
Concept ID:
C3887876
Finding
Synonyms: OS1; OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO
 
Gene (location): FRZB (2q32.1)
 
Monarch Initiative: MONDO:0008143
OMIM®: 165720

Definition

Osteoarthritis is a common disease of the joints that primarily occurs in older adults. This condition is characterized by the breakdown of cartilage, the tough but flexible tissue that covers the ends of the bones at the joints and allows smooth joint movements. One or more parts of the body can be affected, most often the hands, shoulders, spine, knees, or hips.

Osteoarthritis usually develops slowly, causing pain, stiffness, and restricted movement as the condition gets worse. Areas of bone no longer cushioned by cartilage rub against each other and start to break down. Further damage is caused as the body attempts to repair and rebuild these tissues. The immune system, which plays a role in healing injuries, targets these areas, and its response leads to inflammation of the joint tissues. Abnormal growths of bone (osteophytes) and other tissue can also occur, and may be visible as enlarged joints. Enlargement of the joints of the fingers is especially noticeable.

People with osteoarthritis typically experience stiffness following periods of inactivity such as upon awakening or rising from a chair; the stiffness usually improves as they move around. In some affected individuals, the condition never causes major problems. In others, severe osteoarthritis can impair mobility and the ability to perform daily tasks, affecting quality of life and increasing the risk of other health conditions such as cardiovascular disease.

Osteoarthritis is most common in middle age or late adulthood, because the cartilage at the joints naturally begins to thin as people age. However, it can occur earlier in life, especially after injuries affecting the joints such as a type of knee injury called an anterior cruciate ligament (ACL) tear. People who are overweight or whose activities are particularly stressful to the joints are also at increased risk of developing osteoarthritis. [from MedlinePlus Genetics]

Clinical features

From HPO
Osteoarthritis, hip
MedGen UID:
14530
Concept ID:
C0029410
Disease or Syndrome
Osteoarthritis of the hip joint.

Professional guidelines

PubMed

Georgiev T, Angelov AK
Rheumatol Int 2019 Jul;39(7):1145-1157. Epub 2019 Mar 25 doi: 10.1007/s00296-019-04290-z. PMID: 30911813
Hicks KL, Byers PH, Quiroga E, Pepin MG, Shalhub S
J Vasc Surg 2018 Sep;68(3):701-711. Epub 2018 Mar 3 doi: 10.1016/j.jvs.2017.12.023. PMID: 29510914
Piva SR, Susko AM, Khoja SS, Josbeno DA, Fitzgerald GK, Toledo FG
Clin Geriatr Med 2015 Feb;31(1):67-87, viii. Epub 2014 Oct 7 doi: 10.1016/j.cger.2014.08.019. PMID: 25453302Free PMC Article

Curated

UK NICE Guideline NG226, Osteoarthritis in over 16s: diagnosis and management, 2022

Recent clinical studies

Etiology

Aubourg G, Rice SJ, Bruce-Wootton P, Loughlin J
Osteoarthritis Cartilage 2022 May;30(5):636-649. Epub 2021 Mar 17 doi: 10.1016/j.joca.2021.03.002. PMID: 33722698Free PMC Article
Boer CG, Hatzikotoulas K, Southam L, Stefánsdóttir L, Zhang Y, Coutinho de Almeida R, Wu TT, Zheng J, Hartley A, Teder-Laving M, Skogholt AH, Terao C, Zengini E, Alexiadis G, Barysenka A, Bjornsdottir G, Gabrielsen ME, Gilly A, Ingvarsson T, Johnsen MB, Jonsson H, Kloppenburg M, Luetge A, Lund SH, Mägi R, Mangino M, Nelissen RRGHH, Shivakumar M, Steinberg J, Takuwa H, Thomas LF, Tuerlings M; arcOGEN Consortium; HUNT All-In Pain; ARGO Consortium; Regeneron Genetics Center, Babis GC, Cheung JPY, Kang JH, Kraft P, Lietman SA, Samartzis D, Slagboom PE, Stefansson K, Thorsteinsdottir U, Tobias JH, Uitterlinden AG, Winsvold B, Zwart JA, Davey Smith G, Sham PC, Thorleifsson G, Gaunt TR, Morris AP, Valdes AM, Tsezou A, Cheah KSE, Ikegawa S, Hveem K, Esko T, Wilkinson JM, Meulenbelt I, Lee MTM, van Meurs JBJ, Styrkársdóttir U, Zeggini E
Cell 2021 Sep 2;184(18):4784-4818.e17. Epub 2021 Aug 26 doi: 10.1016/j.cell.2021.07.038. PMID: 34450027Free PMC Article
Sun X, Zhen X, Hu X, Li Y, Gu S, Gu Y, Dong H
Int J Environ Res Public Health 2019 Nov 26;16(23) doi: 10.3390/ijerph16234701. PMID: 31779104Free PMC Article
Georgiev T, Angelov AK
Rheumatol Int 2019 Jul;39(7):1145-1157. Epub 2019 Mar 25 doi: 10.1007/s00296-019-04290-z. PMID: 30911813
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article

Diagnosis

Zhang L, Zhang C, Zhang J, Liu A, Wang P, Xu J
Clin Interv Aging 2023;18:1577-1586. Epub 2023 Sep 15 doi: 10.2147/CIA.S424633. PMID: 37731961Free PMC Article
Gu Y, Jin Q, Hu J, Wang X, Yu W, Wang Z, Wang C, Liu Y, Chen Y, Yuan W
J Transl Med 2023 May 31;21(1):357. doi: 10.1186/s12967-023-04165-9. PMID: 37259122Free PMC Article
Yin KJ, Huang JX, Wang P, Yang XK, Tao SS, Li HM, Ni J, Pan HF
Front Immunol 2022;13:808832. Epub 2022 Jan 26 doi: 10.3389/fimmu.2022.808832. PMID: 35154127Free PMC Article
Charoenngam N
Int J Mol Sci 2021 Oct 1;22(19) doi: 10.3390/ijms221910659. PMID: 34639000Free PMC Article
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article

Therapy

Zhang L, Zhang C, Zhang J, Liu A, Wang P, Xu J
Clin Interv Aging 2023;18:1577-1586. Epub 2023 Sep 15 doi: 10.2147/CIA.S424633. PMID: 37731961Free PMC Article
Gu Y, Jin Q, Hu J, Wang X, Yu W, Wang Z, Wang C, Liu Y, Chen Y, Yuan W
J Transl Med 2023 May 31;21(1):357. doi: 10.1186/s12967-023-04165-9. PMID: 37259122Free PMC Article
Yin KJ, Huang JX, Wang P, Yang XK, Tao SS, Li HM, Ni J, Pan HF
Front Immunol 2022;13:808832. Epub 2022 Jan 26 doi: 10.3389/fimmu.2022.808832. PMID: 35154127Free PMC Article
Charoenngam N
Int J Mol Sci 2021 Oct 1;22(19) doi: 10.3390/ijms221910659. PMID: 34639000Free PMC Article
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article

Prognosis

Peshkova M, Lychagin A, Lipina M, Di Matteo B, Anzillotti G, Ronzoni F, Kosheleva N, Shpichka A, Royuk V, Fomin V, Kalinsky E, Timashev P, Kon E
Int J Mol Sci 2022 Mar 2;23(5) doi: 10.3390/ijms23052767. PMID: 35269906Free PMC Article
Ma H, Li X, Zhou T, Sun D, Liang Z, Li Y, Heianza Y, Qi L
Diabetes Care 2020 Apr;43(4):719-725. Epub 2020 Jan 27 doi: 10.2337/dc19-1836. PMID: 31988063Free PMC Article
Georgiev T, Angelov AK
Rheumatol Int 2019 Jul;39(7):1145-1157. Epub 2019 Mar 25 doi: 10.1007/s00296-019-04290-z. PMID: 30911813
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article
Jiang L, Xie X, Wang Y, Wang Y, Lu Y, Tian T, Chu M, Shen Y
Int J Rheum Dis 2016 Dec;19(12):1244-1254. Epub 2016 Nov 5 doi: 10.1111/1756-185X.12895. PMID: 28371440

Clinical prediction guides

Gu Y, Jin Q, Hu J, Wang X, Yu W, Wang Z, Wang C, Liu Y, Chen Y, Yuan W
J Transl Med 2023 May 31;21(1):357. doi: 10.1186/s12967-023-04165-9. PMID: 37259122Free PMC Article
Rahmioglu N, Mortlock S, Ghiasi M, Møller PL, Stefansdottir L, Galarneau G, Turman C, Danning R, Law MH, Sapkota Y, Christofidou P, Skarp S, Giri A, Banasik K, Krassowski M, Lepamets M, Marciniak B, Nõukas M, Perro D, Sliz E, Sobalska-Kwapis M, Thorleifsson G, Topbas-Selcuki NF, Vitonis A, Westergaard D, Arnadottir R, Burgdorf KS, Campbell A, Cheuk CSK, Clementi C, Cook J, De Vivo I, DiVasta A, Dorien O, Donoghue JF, Edwards T, Fontanillas P, Fung JN, Geirsson RT, Girling JE, Harkki P, Harris HR, Healey M, Heikinheimo O, Holdsworth-Carson S, Hostettler IC, Houlden H, Houshdaran S, Irwin JC, Jarvelin MR, Kamatani Y, Kennedy SH, Kepka E, Kettunen J, Kubo M, Kulig B, Kurra V, Laivuori H, Laufer MR, Lindgren CM, MacGregor S, Mangino M, Martin NG, Matalliotaki C, Matalliotakis M, Murray AD, Ndungu A, Nezhat C, Olsen CM, Opoku-Anane J, Padmanabhan S, Paranjpe M, Peters M, Polak G, Porteous DJ, Rabban J, Rexrode KM, Romanowicz H, Saare M, Saavalainen L, Schork AJ, Sen S, Shafrir AL, Siewierska-Górska A, Słomka M, Smith BH, Smolarz B, Szaflik T, Szyłło K, Takahashi A, Terry KL, Tomassetti C, Treloar SA, Vanhie A, Vincent K, Vo KC, Werring DJ, Zeggini E, Zervou MI; DBDS Genomic Consortium; FinnGen Study; FinnGen Endometriosis Taskforce; Celmatix Research Team; 23andMe Research Team, Adachi S, Buring JE, Ridker PM, D'Hooghe T, Goulielmos GN, Hapangama DK, Hayward C, Horne AW, Low SK, Martikainen H, Chasman DI, Rogers PAW, Saunders PT, Sirota M, Spector T, Strapagiel D, Tung JY, Whiteman DC, Giudice LC, Velez-Edwards DR, Uimari O, Kraft P, Salumets A, Nyholt DR, Mägi R, Stefansson K, Becker CM, Yurttas-Beim P, Steinthorsdottir V, Nyegaard M, Missmer SA, Montgomery GW, Morris AP, Zondervan KT
Nat Genet 2023 Mar;55(3):423-436. Epub 2023 Mar 13 doi: 10.1038/s41588-023-01323-z. PMID: 36914876Free PMC Article
Yin KJ, Huang JX, Wang P, Yang XK, Tao SS, Li HM, Ni J, Pan HF
Front Immunol 2022;13:808832. Epub 2022 Jan 26 doi: 10.3389/fimmu.2022.808832. PMID: 35154127Free PMC Article
Charoenngam N
Int J Mol Sci 2021 Oct 1;22(19) doi: 10.3390/ijms221910659. PMID: 34639000Free PMC Article
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article

Recent systematic reviews

Liechti R, Merky DN, Grobbelaar AO, van de Wall BJM, Vögelin E, Hirsiger S
Eur J Trauma Emerg Surg 2023 Oct;49(5):2071-2084. Epub 2023 Feb 7 doi: 10.1007/s00068-023-02222-y. PMID: 36750472
O'Connor D, Johnston RV, Brignardello-Petersen R, Poolman RW, Cyril S, Vandvik PO, Buchbinder R
Cochrane Database Syst Rev 2022 Mar 3;3(3):CD014328. doi: 10.1002/14651858.CD014328. PMID: 35238404Free PMC Article
Derry S, Wiffen PJ, Kalso EA, Bell RF, Aldington D, Phillips T, Gaskell H, Moore RA
Cochrane Database Syst Rev 2017 May 12;5(5):CD008609. doi: 10.1002/14651858.CD008609.pub2. PMID: 28497473Free PMC Article
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article
Jiang L, Tian W, Wang Y, Rong J, Bao C, Liu Y, Zhao Y, Wang C
Joint Bone Spine 2012 May;79(3):291-7. Epub 2011 Jul 30 doi: 10.1016/j.jbspin.2011.05.015. PMID: 21803633

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG226, Osteoarthritis in over 16s: diagnosis and management, 2022

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