Abstract

Transforming growth factor (TGF)-β1 is the most abundant growth factor in human bone. Several polymorphisms have been described in the TGF-β1 gene. To explore the correlation between TGF-β1 gene single nucleotide polymorphism and the clinicopathological characteristics of osteosarcoma. TaqMAN PCR technique was used to detect the TGF-β1 gene polymorphism of 124 patients with osteosarcoma from last follow-up and 136 healthy controls. The difference of gender, age, and allele frequency between patient group and control group with χ (2) text were tested. The relationship between single nucleotide polymorphism and the risk of osteosarcoma with logistic regression and different survival rates of different genotypic patients with osteosarcoma through Kaplan-Meier were analyzed. There is no remarkable difference of the three genotypes in TGF-β1 gene 509C > T locus between the patient group and control group (P = 0.26). However, there are significant distributive differences in 29 T > C genotype (P = 0.04), which shows that patients carrying TT genotype have more risk to get osteosarcoma than patients carrying CC genotype (odds ratio (OR) = 2.10, 95 % confidence interval (CI) = 1.08-4.05). The percentage of T allele frequency of patient group, as 60.1 %, is larger than the control group, as 48.9 %. By comparing with patients carrying CC genotype, patients carrying TT genotype have two times risk of metastasis (OR = 2.30, 95 % CI = 1.05-5.06), and most of them are in the period of Enneking IIB (OR = 2.54, 95 % CI = 1.18-5.51). The survival analysis indicates that there is no any significant decrease when there is recurrence in patients carrying TT genotype. The morbidity and metastasis of osteosarcoma are relevant to TGF-β1 gene 29 T > C single nucleotide polymorphism.

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