Back to Journals » Advances in Genomics and Genetics » Volume 4

Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis

Authors Muoh O, Malemud C, Askari A

Received 18 March 2014

Accepted for publication 3 June 2014

Published 10 November 2014 Volume 2014:4 Pages 193—206


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Ogechi Muoh,1 Charles J Malemud,1,2 Ali D Askari1

1Department of Medicine, Division of Rheumatic Diseases, 2Department of Anatomy, Case Western Reserve University School of Medicine and University Hospitals Case Medical Center, Cleveland, Ohio, USA

Abstract: Idiopathic or primary osteoarthritis is a progressive musculoskeletal disease of diarthrodial synovial joints, whereas secondary osteoarthritis generally arises from an antecedent traumatic injury or abnormal synovial joint development. Presently, the medical therapy of osteoarthritis is limited, and focuses on alleviating the major clinical symptoms of osteoarthritis, which include pain, swelling, and reduced range of joint motion. The end-stage of the osteoarthritic process often requires joint replacement surgery. Although the pathogenetic components of human osteoarthritis remain to be completely elucidated, rodent and canine models of osteoarthritis have indicated that, at least in the early stages of development, osteoarthritis involves articular chondrocyte hypermetabolism, followed by an imbalance between chondrocyte anabolic and catabolic pathways, and limited cartilage repair. Mutations arising in several cartilage collagen isoforms, the proteoglycans aggrecan and asporin, cartilage oligomeric matrix protein, and matrilin-3 can be associated with precocious and age-related osteoarthritis, as well as chondrodysplasias. Whole genome scanning of blood cells from individuals with osteoarthritis in Iceland, the United Kingdom, and the United States indicated the strong likelihood of osteoarthritis gene susceptibility loci on chromosome regions, 7q34–7q36.3, 11p12–11q13.4, 6p21.1–6q15, 2q31.1–2q34, and 15q21.3–15q26.1. Genetic analyses of non-extracellular matrix proteins have suggested an association of osteoarthritis with single nucleotide polymorphisms in the genes encoding growth and differentiation factor-5, secreted Frizzle-related protein-3, deiodinase-2, and calmodulin-1. The continued elucidation of genetic markers of osteoarthritis may one day be employed to better define, for an individual, the probability of developing osteoarthritis, the likely rate of progression of osteoarthritis, the relative risk of requiring joint arthroplasty, and predict prosthetic joint loosening.

genome-wide association studies, osteoarthritis, single nucleotide polymorphisms

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]


Readers of this article also read:

Emerging and future therapies for hemophilia

Carr ME, Tortella BJ

Journal of Blood Medicine 2015, 6:245-255

Published Date: 3 September 2015

A new recombinant factor VIII: from genetics to clinical use

Santagostino E

Drug Design, Development and Therapy 2014, 8:2507-2515

Published Date: 12 December 2014

Green synthesis of water-soluble nontoxic polymeric nanocomposites containing silver nanoparticles

Prozorova GF, Pozdnyakov AS, Kuznetsova NP, Korzhova SA, Emel’yanov AI, Ermakova TG, Fadeeva TV, Sosedova LM

International Journal of Nanomedicine 2014, 9:1883-1889

Published Date: 16 April 2014

Methacrylic-based nanogels for the pH-sensitive delivery of 5-Fluorouracil in the colon

Ashwanikumar N, Kumar NA, Nair SA, Kumar GS

International Journal of Nanomedicine 2012, 7:5769-5779

Published Date: 15 November 2012

A novel preparation method for silicone oil nanoemulsions and its application for coating hair with silicone

Hu Z, Liao M, Chen Y, Cai Y, Meng L, Liu Y, Lv N, Liu Z, Yuan W

International Journal of Nanomedicine 2012, 7:5719-5724

Published Date: 12 November 2012

Cross-linked acrylic hydrogel for the controlled delivery of hydrophobic drugs in cancer therapy

Deepa G, Thulasidasan AK, Anto RJ, Pillai JJ, Kumar GS

International Journal of Nanomedicine 2012, 7:4077-4088

Published Date: 27 July 2012

Crystallization after intravitreal ganciclovir injection

Pitipol Choopong, Nattaporn Tesavibul, Nattawut Rodanant

Clinical Ophthalmology 2010, 4:709-711

Published Date: 14 July 2010