Correlation Between TGF-β1-509C/T Gene Polymorphisms and Primary Knee Osteoarthritis-A Clinical Study

Abstract

Objective: To investigate any correlations between TGF-β1-509C/T gene polymorphisms and primary knee osteoarthritis (PKOA) to obtain new new understanding PKOA pathogenesis and new methods for the diagnosis, and treatment of PKOA.Methods: Eighty-eight PKOA patients and 89 healthy controls were randomly selected from the Department of Orthopedics, the Affiliated Hospital of Hunan Academy of Traditional Chinese Medicine. Polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis was performed to test TGF-β1-509 locus genes and genotypes of the subjects. Genotypes and allele frequencies were compared using the chi-square test. Relative risk is represented with odds ratio (OR) and 95 % confidence interval (CI).Results: The distribution of TGF-β1-509 genotypes for PKOA and healthy control groups complied with Hardy-Weinberg equilibrium law, indicating that a representative population was used. Compared to the healthy control group, the PKOA group had distribution differences for both genotypes and allele frequencies. PKOA group CC genotypic frequency was significantly higher than the healthy control group (44.3 % vs. 13.5 %, χ2 = 20.51, p = 0.0000); allele frequency was significantly higher than the control group (65.9 % vs. 41.6 %, χ2 = 21.08, p = 0.0000). The differences were statistically significant (p < 0.05). No statistically significant differences were found between mild and severe CC genotype frequencies (39.5 % vs. 48.9 %, χ2 = 0.792, p = 0.37), and between C allele frequencies (62.8 % vs. 68.9 %, χ2 = 0.728, p = 0.39) in PKOA group.Conclusion: TGF-β1-509C/T gene polymorphism associates PKOA in Hunan region patients. allele C carriers in the locus may have higher susceptibiliy to PKOA.