Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis
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...
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ftdovepress:oai:dovepress.com/19093 2023-05-15T16:51:55+02:00 Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis Muoh,Ogechi Malemud,Charles J Askari,Ali D 2014-11-10 text/html https://www.dovepress.com/clinical-significance-and-implications-of-genetic-and-genomic-studies--peer-reviewed-fulltext-article-AGG en eng Dove Press info:eu-repo/semantics/altIdentifier/doi/10.2147/AGG.S64284 https://www.dovepress.com/clinical-significance-and-implications-of-genetic-and-genomic-studies--peer-reviewed-fulltext-article-AGG info:eu-repo/semantics/openAccess Advances in Genomics and Genetics Review info:eu-repo/semantics/article 2014 ftdovepress https://doi.org/10.2147/AGG.S64284 2022-12-27T21:47:09Z 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 ... Article in Journal/Newspaper Iceland Dove Medical Press Advances in Genomics and Genetics 193 |
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Advances in Genomics and Genetics Muoh,Ogechi Malemud,Charles J Askari,Ali D Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis |
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Advances in Genomics and Genetics |
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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 ... |
format |
Article in Journal/Newspaper |
author |
Muoh,Ogechi Malemud,Charles J Askari,Ali D |
author_facet |
Muoh,Ogechi Malemud,Charles J Askari,Ali D |
author_sort |
Muoh,Ogechi |
title |
Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis |
title_short |
Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis |
title_full |
Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis |
title_fullStr |
Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis |
title_full_unstemmed |
Clinical significance and implications of genetic and genomic studies in patients with osteoarthritis |
title_sort |
clinical significance and implications of genetic and genomic studies in patients with osteoarthritis |
publisher |
Dove Press |
publishDate |
2014 |
url |
https://www.dovepress.com/clinical-significance-and-implications-of-genetic-and-genomic-studies--peer-reviewed-fulltext-article-AGG |
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Iceland |
genre_facet |
Iceland |
op_relation |
info:eu-repo/semantics/altIdentifier/doi/10.2147/AGG.S64284 https://www.dovepress.com/clinical-significance-and-implications-of-genetic-and-genomic-studies--peer-reviewed-fulltext-article-AGG |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.2147/AGG.S64284 |
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Advances in Genomics and Genetics |
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193 |
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