Abstract：
OBJECTIVE: This project aimed to evaluate the relationship between the suppressor of cytokine signaling-1 (SOCS1) - 1478 CA > del genetic variation and breast cancer susceptibility. Moreover, we investigated the SOCS1 mRNA expression level in cancerous tissues.
METHODS: A total of 100 patients with breast cancer and 120 healthy individuals were selected. Genomic DNA was extracted from blood. SOCS1 genotyping and relative gene expression were performed using ARMS-PCR (Amplification-Refractory Mutation System-Polymerase Chain Reaction) and real-time PCR, respectively.
RESULTS: In breast cancer patients, the prevalence of genotype frequencies of SOCS1 (- 1478 CA > del) CA/CA, CA/del, and del/del was 52, 31, and 17%, respectively. Among controls, the distribution of CA/CA, CA/del, and del/del was 63, 15, and 22%, respectively. The chi-square test reported that a significant difference was observed in the genotypic distribution of SOCS1 (- 1478 CA > del) polymorphism between cases and controls (χ2 = 8.08, P = 0.01). In addition, the presence of the CA/del genotype was associated with an elevated risk of breast cancer (in the codominant model: OR 2.51; 95% CI 1.27-4.96, P = 0.007 and in the over dominant model: OR 2.54; 95% CI 1.32-4.90, P = 0.005). However, there was no significant difference in allelic distributions between the groups (P > 0.05). There was no significant difference in the breast cancer risk associated with the dominant and recessive genetic models when the reference was CA/CA and CA/CA + CA/del genotype, respectively (P = 0.09 and P = 0.38). Moreover, the expression of SOCS1 decreased in cancerous tissues as compared to the adjacent non-cancerous tissues (P < 0.0001).
CONCLUSIONS: In conclusion, a functional SOCS1 promoter polymorphism (- 1478 CA > del) may affect breast cancer susceptibility.
METHODS: A total of 100 patients with breast cancer and 120 healthy individuals were selected. Genomic DNA was extracted from blood. SOCS1 genotyping and relative gene expression were performed using ARMS-PCR (Amplification-Refractory Mutation System-Polymerase Chain Reaction) and real-time PCR, respectively.
RESULTS: In breast cancer patients, the prevalence of genotype frequencies of SOCS1 (- 1478 CA > del) CA/CA, CA/del, and del/del was 52, 31, and 17%, respectively. Among controls, the distribution of CA/CA, CA/del, and del/del was 63, 15, and 22%, respectively. The chi-square test reported that a significant difference was observed in the genotypic distribution of SOCS1 (- 1478 CA > del) polymorphism between cases and controls (χ2 = 8.08, P = 0.01). In addition, the presence of the CA/del genotype was associated with an elevated risk of breast cancer (in the codominant model: OR 2.51; 95% CI 1.27-4.96, P = 0.007 and in the over dominant model: OR 2.54; 95% CI 1.32-4.90, P = 0.005). However, there was no significant difference in allelic distributions between the groups (P > 0.05). There was no significant difference in the breast cancer risk associated with the dominant and recessive genetic models when the reference was CA/CA and CA/CA + CA/del genotype, respectively (P = 0.09 and P = 0.38). Moreover, the expression of SOCS1 decreased in cancerous tissues as compared to the adjacent non-cancerous tissues (P < 0.0001).
CONCLUSIONS: In conclusion, a functional SOCS1 promoter polymorphism (- 1478 CA > del) may affect breast cancer susceptibility.
摘要：
目的：本项目旨在评估细胞因子信号抑制因子-1（SOCS1）-1478CA>del遗传变异与乳腺癌易感性之间的关系。此外，我们调查了癌组织中SOCS1mRNA的表达水平。
方法：选择100例乳腺癌患者和120例健康人。从血液中提取基因组DNA。使用ARMS-PCR（扩增-难治性突变系统-聚合酶链反应）和实时PCR进行SOCS1基因分型和相对基因表达，分别。
结果：在乳腺癌患者中，SOCS1(-1478CA>del)CA/CA基因型频率的患病率，CA/del,德尔/德尔分别为52％，31％和17％，分别。在控件中，CA/CA的分布，CA/del,德尔/德尔分别为63%、15%和22%，分别。卡方检验报告，病例和对照组之间SOCS1（-1478CA>del）多态性的基因型分布存在显着差异（χ2=8.08，P=0.01）。此外,CA/del基因型的存在与乳腺癌风险升高相关(共显性模型:OR2.51;95%CI1.27~4.96,P=0.007;超显性模型:OR2.54;95%CI1.32~4.90,P=0.005).然而,组间等位基因分布差异无统计学意义(P>0.05)。当参考为CA/CA和CA/CA+CA/del基因型时，与显性和隐性遗传模型相关的乳腺癌风险没有显着差异。分别为(P=0.09和P=0.38)。此外，与邻近的非癌组织相比，SOCS1在癌组织中的表达降低（P<0.0001）。
结论：结论：功能性SOCS1启动子多态性(-1478CA>del)可能影响乳腺癌易感性。
方法：选择100例乳腺癌患者和120例健康人。从血液中提取基因组DNA。使用ARMS-PCR（扩增-难治性突变系统-聚合酶链反应）和实时PCR进行SOCS1基因分型和相对基因表达，分别。
结果：在乳腺癌患者中，SOCS1(-1478CA>del)CA/CA基因型频率的患病率，CA/del,德尔/德尔分别为52％，31％和17％，分别。在控件中，CA/CA的分布，CA/del,德尔/德尔分别为63%、15%和22%，分别。卡方检验报告，病例和对照组之间SOCS1（-1478CA>del）多态性的基因型分布存在显着差异（χ2=8.08，P=0.01）。此外,CA/del基因型的存在与乳腺癌风险升高相关(共显性模型:OR2.51;95%CI1.27~4.96,P=0.007;超显性模型:OR2.54;95%CI1.32~4.90,P=0.005).然而,组间等位基因分布差异无统计学意义(P>0.05)。当参考为CA/CA和CA/CA+CA/del基因型时，与显性和隐性遗传模型相关的乳腺癌风险没有显着差异。分别为(P=0.09和P=0.38)。此外，与邻近的非癌组织相比，SOCS1在癌组织中的表达降低（P<0.0001）。
结论：结论：功能性SOCS1启动子多态性(-1478CA>del)可能影响乳腺癌易感性。
