Identification of novel genetic variations affecting osteoarthritis patients

BMC Medical Genetics

Review

Mazin Gari¹  Ashraf Dallol¹  Abdullah Gari²  Adel M. Abuzenadah³  Mohammed F. Abuzinadah³  Muhammad Abu-Elmagd⁴  Roaa Kadam⁴  Heba Alkhatabi⁵  Haneen S. Alsehli⁶  Mamdooh Abdullah Gari⁷  Kalamegam Gauthaman⁸  Mohammed M. Abbas⁹  Mohammed AlKaff⁹ 

[1] Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Department of Hematology, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box 80216, 21589, Jeddah, Kingdom of Saudi Arabia;Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box 80216, 21589, Jeddah, Kingdom of Saudi Arabia;Sheikh Salem Bin Mahfouz Scientific Chair for Treatment of Osteoarthritis by Stem Cells, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Sheikh Salem Bin Mahfouz Scientific Chair for Treatment of Osteoarthritis by Stem Cells, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box 80216, 21589, Jeddah, Kingdom of Saudi Arabia;Sheikh Salem Bin Mahfouz Scientific Chair for Treatment of Osteoarthritis by Stem Cells, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Sheikh Salem Bin Mahfouz Scientific Chair for Treatment of Osteoarthritis by Stem Cells, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;Department of Orthopedic Surgery, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;

关键词: Osteoarthritis;    Whole-exome sequencing;    Single nucleotide variants;   

DOI  :  10.1186/s12881-016-0330-2

来源: Springer

【 摘 要 】

BackgroundOsteoarthritis (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).ResultsWe 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.ConclusionsThe approach of whole-exome sequencing can be a promising method to identify genetic mutations that can influence the OA disease.

【 授权许可】

CC BY   
© The Author(s). 2016