Document Details

Document Type : Article In Journal 
Document Title :
Identification of novel genetic variations affecting osteoarthritis patients
Identification of novel genetic variations affecting osteoarthritis patients
Document Language : English 
Abstract : 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. 
ISSN : 1471-2350 
Journal Name : BMC medical genetics 
Volume : 17 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD
Article Type : Article 
Added Date : Tuesday, July 18, 2017 


Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Mamdooh Abdullah GariGari, Mamdooh AbdullahResearcherDoctorate 
Mohammed AlKaffAlKaff, Mohammed ResearcherDoctorate 
Mohammed M AbbasAbbas, Mohammed MResearcherDoctorate 
Haneen S AlsehliAlsehli, Haneen SResearcherDoctorate 
Ashraf DallolDallol, Ashraf ResearcherDoctorate 
Abdullah GariGari, Abdullah ResearcherDoctorate 
Muhammad Abu-ElmagdAbu-Elmagd, Muhammad ResearcherDoctorate 
Roaa KadamKadam, Roaa Researcher  
Mohammed F. AbuzinadahAbuzinadah, Mohammed F.ResearcherDoctorate 
Mazin GariGari, Mazin ResearcherDoctorate 
Adel M AbuzenadahAbuzenadah, Adel MResearcherDoctorate 
Kalamegam GauthamanGauthaman, Kalamegam ResearcherDoctorate 
Heba AlkhatabiAlkhatabi, Heba ResearcherDoctorate 


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