Abstract
Purpose
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).
Conclusion
In conclusion, a functional SOCS1 promoter polymorphism (− 1478 CA > del) may affect breast cancer susceptibility.
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Data availability
The data that support the findings of this study are available from the corresponding author, upon reasonable request.
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Acknowledgements
This work was partially supported by the University of Guilan. The authors would like to thank everyone who participated in the genetic lab at the Faculty of Sciences in Rasht, Iran.
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All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by [ZS, FM, HSS, HP]. The first draft of the manuscript was written by [ZS] and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.”
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Paeiz, H., Salehi, Z., Mashayekhi, F. et al. The importance of SOCS1 − 1478 CA/del polymorphism and expression in breast cancer: a case–control study in the north of Iran. Breast Cancer Res Treat 202, 389–395 (2023). https://doi.org/10.1007/s10549-023-07070-3
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DOI: https://doi.org/10.1007/s10549-023-07070-3