title: Identification of novel genetic variations affecting osteoarthritis patients.
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.
authors: Sheikh Salem Bin Mahfouz Scientific Chair for Treatment of Osteoarthritis by Stem Cells, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. mgari@kau.edu.sa.|Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. mgari@kau.edu.sa.|Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box 80216, Jeddah, 21589, Kingdom of Saudi Arabia. mgari@kau.edu.sa.
authors: Mamdooh Abdullah
authors: MA
authors: Gari
authors: 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.
authors: Mohammed
authors: M
authors: AlKaff
authors: 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.
authors: Haneen S
authors: HS
authors: Alsehli
authors: Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
authors: Ashraf
authors: A
authors: Dallol
authors: 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.
authors: Abdullah
authors: A
authors: Gari
authors: Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
authors: Muhammad
authors: M
authors: Abu-Elmagd
authors: Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
authors: Roaa
authors: R
authors: Kadam
authors: 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, Jeddah, 21589, Kingdom of Saudi Arabia.
authors: Mohammed F
authors: MF
authors: Abuzinadah
authors: Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
authors: Mazin
authors: M
authors: Gari
authors: 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, Jeddah, 21589, Kingdom of Saudi Arabia.
authors: Adel M
authors: AM
authors: Abuzenadah
authors: 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.
authors: Kalamegam
authors: K
authors: Gauthaman
authors: 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, Jeddah, 21589, Kingdom of Saudi Arabia.
authors: Heba
authors: H
authors: Alkhatabi
authors: 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.
authors: Mohammed M
authors: MM
authors: Abbas
mesh_terms: D000368:Aged; D002356:Cartilage / Q000378:metabolism; D024043:Collagen Type II / Q000235:genetics; D024142:Collagen Type VI / Q000235:genetics; D059472:Exome / Q000235:genetics*; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D051917:Leukosialin / Q000235:genetics; D008875:Middle Aged; D010003:Osteoarthritis / Q000235:genetics* / Q000473:pathology; D019007:P-Selectin / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C499177:COL2A1 protein, human; C555240:COL6A6 protein, human; D024043:Collagen Type II; D024142:Collagen Type VI; D051917:Leukosialin; D019007:P-Selectin; C546937:SELP protein, human; C465014:SPN protein, human
keywords: Osteoarthritis; Single nucleotide variants; Whole-exome sequencing