本研究旨在评估细胞因子信号抑制剂-1（suppresser of cytokine signaling-1, SOCS1）-1478 CA > del基因变异与乳腺癌易感性之间的关系。此外，我们还调查了癌组织中的SOCS1 mRNA表达水平。共选择了100名乳腺癌患者和120名健康个体。从血液中提取基因组DNA。分别使用ARMS-PCR（Amplification-Refractory Mutation System-Polymerase Chain Reaction）和实时聚合酶链反应测定方法进行SOCS1基因分型和相对基因表达测定。在乳腺癌患者中，SOCS1（-1478 CA > del）的基因型频率为CA/CA、CA/del和del/del，分别为52%、31%和17%。在对照组中，CA/CA、CA/del和del/del的分布分别为63%、15%和22%。卡方检验显示SOCS1（-1478 CA > del）的基因型分布在病例组和对照组之间存在显著差异（χ2 = 8.08，P = 0.01）。此外，CA/del基因型的存在与乳腺癌风险的增加有关（在共显性模型中：OR 2.51，95% CI 1.27-4.96，P = 0.007，超显性模型中：OR 2.54，95% CI 1.32-4.90，P = 0.005）。然而，组间等位基因分布没有显著差异（P > 0.05）。当参考基因型为CA/CA和CA/CA + CA/del时，基因型的显性和隐性遗传模型与乳腺癌风险没有显著差异（P = 0.09和P = 0.38）。此外，与相邻的非癌组织相比，癌组织中SOCS1的表达下调（P < 0.0001）。综上所述，一个功能性的SOCS1启动子多态性（-1478 CA > del）可能会影响乳腺癌的易感性。© 2023. The Author(s), 独家许可 Springer Science+Business Media, LLC, Springer Nature的一部分。

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.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.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).In conclusion, a functional SOCS1 promoter polymorphism (- 1478 CA > del) may affect breast cancer susceptibility.© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.