Association Of The ²⁹T>C Polymorphism Of TGF-β1 Gene With Osteosarcoma

[Objective] To investigate the association between the first exon 29T>C polymorphism of transforming growth factor-β1 gene and osteosarcoma of Han nationality in Shandong Peninsula people, in order to find the genetic factors which affect the incidence of osteosarcoma and explore a new way for early clinical detection and diagnosis of high-risk groups of osteosarcoma.[Methods] The situation of TGF-β1 gene 29T>C polymorphism was tested in peripheral blood of 56 patients with osteosarcoma (October,2005 to October,2009,26 males,30 females) and 72 cases of normal control group which came from the hospital health check-up center (41 males,31 females). The cases of normal control group were without diabetes mellitus, coronary heart disease and tumor, and their blood tests, liver and kidney function tests, color ultrasonic of heart and abdomen were all normal. The peripheral blood of two groups was kept in the -80℃Ultra-low Temperature Freezer.The single nucleotide polymorphism (SNP) was genotyped in 56 patients with osteosarcoma and 72 controls, using allele-specific PCR (AS-PCR) and divided the patients with osteosarcoma into high, middle and low differentiated three groups on the basis of the pathological diagnosis of the patients that diagnosed by the pathology department of our hospital, to evaluate and analysis the relationship between 29T>C polymorphism of transforming growth factor-β1 gene, the cause and differentiation of osteosarcoma. The data were processed using SPSS 13.0 software for statistical analysis.[Result] It showed that in all samples of 128 cases, there were 50 cases (patients group 29, normal control group 21)that at the base 29 in the first exon of the TGF-β1 gene were TT types,44 cases (patients group 16, normal control group 28) were TC types,34 cases (patients group 11, normal control group 23) were CC types. The SNP showed that there were 29T>C polymorphism of transforming growth factor-β1 gene in both the osteosarcoma patients and normal control group, and significant differences were observed in the distribution (P<0.05). The distribution frequency of TT types in the patients group was higher than it in the control group, but the distribution frequency of TC types and CC types in the two groups were no significant differences. In all the 56 osteosarcoma patients, there were 11 cases in the high-differentiated group,13 cases in the middle-differentiated group and 32 cases in the low-differentiated group. The distribution of the 29T>C polymorphism of transforming growth factor-β1 gene in the three groups were significantly different (P <0.05). The distribution frequency of TT types in the low- differentiated group was higher than those in the middle- differentiated group and high-differentiated group, but the distribution frequency of TC types and CC types in the three groups were no significant differences.[Conclusion] This research showed that there were 29T>C polymorphism of transforming growth factor-β1 gene in both the osteosarcoma patients and normal control group, and significant differences were observed in the distribution (P<0.05), and the distribution frequency of TT types in the osteosarcoma patients was relevant to the degree of differentiation of the osteosarcoma. It indicated that the TT genotype could reduce the expression of the transforming growth factor-β1 gene, and made early inhibiting tumor function abate. The TT genotype among 29T>C polymorphism of TGF-β1 gene may be a genetic factor that arouse osteosarcoma. [Objective] To investigate the association between the first exon 29T>C polymorphism of transforming growth factor-β1 gene and osteosarcoma of Han nationality in Shandong Peninsula people, in order to find the genetic factors which affect the incidence of osteosarcoma and explore a new way for early clinical detection and diagnosis of high-risk groups of osteosarcoma.[Methods] The situation of TGF-β1 gene 29T>C polymorphism was tested in peripheral blood of 56 patients with osteosarcoma (October,2005 to October,2009,26 males,30 females) and 72 cases of normal control group which came from the hospital health check-up center (41 males,31 females). The cases of normal control group were without diabetes mellitus, coronary heart disease and tumor, and their blood tests, liver and kidney function tests, color ultrasonic of heart and abdomen were all normal. The peripheral blood of two groups was kept in the -80℃Ultra-low Temperature Freezer.The single nucleotide polymorphism (SNP) was genotyped in 56 patients with osteosarcoma and 72 controls, using allele-specific PCR (AS-PCR) and divided the patients with osteosarcoma into high, middle and low differentiated three groups on the basis of the pathological diagnosis of the patients that diagnosed by the pathology department of our hospital, to evaluate and analysis the relationship between 29T>C polymorphism of transforming growth factor-β1 gene, the cause and differentiation of osteosarcoma. The data were processed using SPSS 13.0 software for statistical analysis.[Result] It showed that in all samples of 128 cases, there were 50 cases (patients group 29, normal control group 21)that at the base 29 in the first exon of the TGF-β1 gene were TT types,44 cases (patients group 16, normal control group 28) were TC types,34 cases (patients group 11, normal control group 23) were CC types. The SNP showed that there were 29T>C polymorphism of transforming growth factor-β1 gene in both the osteosarcoma patients and normal control group, and significant differences were observed in the distribution (P<0.05). The distribution frequency of TT types in the patients group was higher than it in the control group, but the distribution frequency of TC types and CC types in the two groups were no significant differences. In all the 56 osteosarcoma patients, there were 11 cases in the high- differentiated group,13 cases in the middle- differentiated group and 32 cases in the low-differentiated group. The distribution of the 29T>C polymorphism of transforming growth factor-β1 gene in the three groups were significantly different (P <0.05). The distribution frequency of TT types in the low- differentiated group was higher than those in the middle- differentiated group and high-differentiated group, but the distribution frequency of TC types and CC types in the three groups were no significant differences.[Conclusion] This research showed that there were 29T>C polymorphism of transforming growth factor-β1 gene in both the osteosarcoma patients and normal control group, and significant differences were observed in the distribution (P<0.05), and the distribution frequency of TT types in the osteosarcoma patients was relevant to the degree of differentiation of the osteosarcoma. It indicated that the TT genotype could reduce the expression of the transforming growth factor-β1 gene, and made early inhibiting tumor function abate. The TT genotype among 29T>C polymorphism of TGF-β1 gene may be a genetic factor that arouse osteosarcoma.