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Seipin as a Putative Protective Factor for Breast Cancer: Evidence from Mendelian Randomization Analysis
Junfeng Zeng1, Xinxu Wang2, Luxuan Fan1
1School of Basic Medical Sciences, Shanxi Medical University, Taiyuan, Shanxi, 030001, People's Republic of China.
International Journal of Women'S Health
|July 26, 2026
Summary
Mendelian randomization analysis suggests Seipin may reduce breast cancer risk. Lower Seipin expression in tumors correlates with adverse features, indicating a potential protective role in breast cancer development.
Area of Science:
- Genetics
- Oncology
- Biochemistry
Background:
- Seipin (BSCL2) is implicated in lipid metabolism and adipogenesis.
- Its role in breast cancer pathogenesis remains unclear.
Purpose of the Study:
- To investigate the potential causal association between Seipin and breast cancer risk.
- To explore the relationship between Seipin expression and clinicopathological features in breast cancer.
Main Methods:
- Mendelian randomization (MR) analysis using genome-wide association study (GWAS) data.
- Instrumental variables (IVs) for Seipin were identified and analyzed using inverse variance weighting (IVW), MR-Egger, and weighted median methods.
- Immunohistochemistry was performed on breast cancer and mammary hyperplasia tissues; TCGA-BRCA cohort data provided independent validation.
Main Results:
- MR analyses indicated an inverse association between Seipin and breast cancer risk (IVW: OR = 0.89, P < 0.05).
- Lower Seipin expression was observed in breast cancer tissues compared to mammary hyperplasia tissues.
- Reduced Seipin expression correlated with adverse clinicopathological features and was validated in the TCGA-BRCA cohort.
Conclusions:
- Seipin may act as a protective factor against breast cancer occurrence and progression.
- Combined evidence from MR, immunohistochemistry, and public databases supports Seipin's potential role.
- Further functional studies are warranted to elucidate the underlying mechanisms of Seipin in breast cancer.