Association of TGF-β1-509C/T gene polymorphisms with primary knee osteoarthritis
XU Hui*, LUO Jie, FENG Lan, SU Xin-ping, WU Guan-bao, LUO Ji
*The Second Department of Orthopaedics and Traumatology, the Affiliated Hospital of Hunan Institute of Traditional Chinese Medicine, Changsha, Hunan 410006, China
Abstract：Objective To explore the relation between the gene polymorphisms of transforming growth factor-β1 (TGF-β1) promoter-509C/T and primary knee osteoarthritis (PKOA), and to provide a new approach for the pathogenesis analysis, diagnosis and treatment of PKOA. Methods Correlation analysis was used in this study. 88 patients with PKOA were randomly selected from the Affiliated Hospital of Hunan Institute of Traditional Chinese Medicine, and 89 healthy controls served as the controls. The TGF-β1-509C/T gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotypes and allele frequencies were compared by chi-square test, and the relative risk was indicated by the OR and 95% confidence intervals (CI). Results The -509C/T genotypic frequencies in the PKOA group and the control group both conformed to Hardy-Weinberg equilibrium, indicating that the selected population were representative. There were statistically significant differences in the genotypic frequencies and the distribution of alleles between the PKOA group and the healthy control group. The -509 CC genotypic frequency was significantly higher in the PKOA group than in the healthy control group (44.3% vs. 13.5%, χ2=20.51, P=0.0000). So was the -509C allelic frequency (65.9% vs. 41.6%, χ2=21.08, P=0.0000). No statistically significant differences were found in the -509 CC genotypic frequency (39.5% vs. 48.9%, χ2=0.792, P=0.37) and the -509C allelic frequency (62.8% vs. 68.9%, χ2=0.728, P=0.39) between the mild PKOA group and the severe PKOA group. Conclusions The gene polymorphisms of transforming growth factor-β1 promoter -509C/T are associated with PKOA in Hunan Province. The individuals carrying the -509C allele may be more susceptible to PKOA.
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2016, Vol. 23 
