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Updated: Jan 19, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Association of CCL2 Gene Variants with Osteoarthritis
Zhonghua Xu1, Jin Li2, Haoyu Yang3
1Department of Orthopedics, The Affiliated Changzhou No.2 People's Hospital of Nanjing Medical University, Changzhou, China; Department of Orthopedics, Jintan Hospital Affiliated to Jiangsu Univeristy, Changzhou, China.
Background And Aims:
The chemokine (C-C motif) Ligand 2 (CCL2)/CCR2 signaling was associated with macrophage accumulation, synovitis and cartilage damage in a mouse osteoarthritis (OA) model.
Materials And Methods:
Here a case-control study in a Chinese Han population was conducted to investigate the possible association between the CCL2 gene polymorphism and risk of OA. DNA was extracted from 367 primary knee OA patients and 303 healthy controls. Then CCL2 gene polymorphisms were determined using a standard polymerase chain reaction restriction fragment length polymorphism. Plasma CCL2 levels were measured by using sandwich enzyme-linked immunosorbent assay (ELISA).
Results:
It was found the CCL2 gene rs1024611 and rs4586 polymorphisms significantly increased the risk of OA. Stratified analyses showed the risk of OA might be increased by rs1024611 polymorphism in males and non-drinkers, and was increased by rs4586 polymorphism among smokers and drinkers. The CC genotype of rs4586 polymorphism was significantly correlated with the increased CCL2 level compared to TT genotype.
Conclusions:
In conclusion, CCL2 gene polymorphisms (rs1024611 and rs4586) confer susceptibility to OA and may be potential markers for early diagnosis of OA.
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