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Identification of novel genetic variations affecting osteoarthritis patients
BACKGROUND: Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure that is mainly composed of type II collagen and provides tensile strength to th...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073985/ https://www.ncbi.nlm.nih.gov/pubmed/27766954 http://dx.doi.org/10.1186/s12881-016-0330-2 |
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author | Gari, Mamdooh Abdullah AlKaff, Mohammed Alsehli, Haneen S. Dallol, Ashraf Gari, Abdullah Abu-Elmagd, Muhammad Kadam, Roaa Abuzinadah, Mohammed F. Gari, Mazin Abuzenadah, Adel M. Gauthaman, Kalamegam Alkhatabi, Heba Abbas, Mohammed M. |
author_facet | Gari, Mamdooh Abdullah AlKaff, Mohammed Alsehli, Haneen S. Dallol, Ashraf Gari, Abdullah Abu-Elmagd, Muhammad Kadam, Roaa Abuzinadah, Mohammed F. Gari, Mazin Abuzenadah, Adel M. Gauthaman, Kalamegam Alkhatabi, Heba Abbas, Mohammed M. |
author_sort | Gari, Mamdooh Abdullah |
collection | PubMed |
description | BACKGROUND: Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure that is mainly composed of type II collagen and provides tensile strength to the tissue via aggrecan and proteoglycans. However, changes in the ECM composition and structure can lead to loss of collagen type II and network integrity. Several risk factors have been correlated with OA including age, genetic predisposition, hereditary factors, obesity, mechanical injuries, and joint trauma. Certain genetic association studies have identified several genes associated with OA using genome-wide association studies (GWASs). RESULTS: We identified several novel genetic variants affecting genes that function in several candidate causative pathways including immune responses, inflammatory and cartilage degradation such as SELP, SPN, and COL6A6. CONCLUSIONS: The approach of whole-exome sequencing can be a promising method to identify genetic mutations that can influence the OA disease. |
format | Online Article Text |
id | pubmed-5073985 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-50739852016-10-27 Identification of novel genetic variations affecting osteoarthritis patients Gari, Mamdooh Abdullah AlKaff, Mohammed Alsehli, Haneen S. Dallol, Ashraf Gari, Abdullah Abu-Elmagd, Muhammad Kadam, Roaa Abuzinadah, Mohammed F. Gari, Mazin Abuzenadah, Adel M. Gauthaman, Kalamegam Alkhatabi, Heba Abbas, Mohammed M. BMC Med Genet Review BACKGROUND: Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure that is mainly composed of type II collagen and provides tensile strength to the tissue via aggrecan and proteoglycans. However, changes in the ECM composition and structure can lead to loss of collagen type II and network integrity. Several risk factors have been correlated with OA including age, genetic predisposition, hereditary factors, obesity, mechanical injuries, and joint trauma. Certain genetic association studies have identified several genes associated with OA using genome-wide association studies (GWASs). RESULTS: We identified several novel genetic variants affecting genes that function in several candidate causative pathways including immune responses, inflammatory and cartilage degradation such as SELP, SPN, and COL6A6. CONCLUSIONS: The approach of whole-exome sequencing can be a promising method to identify genetic mutations that can influence the OA disease. BioMed Central 2016-10-10 /pmc/articles/PMC5073985/ /pubmed/27766954 http://dx.doi.org/10.1186/s12881-016-0330-2 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Review Gari, Mamdooh Abdullah AlKaff, Mohammed Alsehli, Haneen S. Dallol, Ashraf Gari, Abdullah Abu-Elmagd, Muhammad Kadam, Roaa Abuzinadah, Mohammed F. Gari, Mazin Abuzenadah, Adel M. Gauthaman, Kalamegam Alkhatabi, Heba Abbas, Mohammed M. Identification of novel genetic variations affecting osteoarthritis patients |
title | Identification of novel genetic variations affecting osteoarthritis patients |
title_full | Identification of novel genetic variations affecting osteoarthritis patients |
title_fullStr | Identification of novel genetic variations affecting osteoarthritis patients |
title_full_unstemmed | Identification of novel genetic variations affecting osteoarthritis patients |
title_short | Identification of novel genetic variations affecting osteoarthritis patients |
title_sort | identification of novel genetic variations affecting osteoarthritis patients |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073985/ https://www.ncbi.nlm.nih.gov/pubmed/27766954 http://dx.doi.org/10.1186/s12881-016-0330-2 |
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