Genetic association of lipids and lipid-lowering drug target genes with breast cancer

Abstract Background Although several preclinical and epidemiological studies have shown that blood lipids and lipid-lowering drugs can reduce the risk of breast cancer, this finding remains controversial. This study aimed to explore the causal relationship between dyslipidemia,lipid-lowering drugs,...

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Main Authors: Tianhua Wang, Yan Yao, Xinhai Gao, Hao Luan, Xue Wang, Lijuan Liu, Changgang Sun
Format: Article
Language:English
Published: Springer 2025-03-01
Series:Discover Oncology
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Online Access:https://doi.org/10.1007/s12672-025-02041-0
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author Tianhua Wang
Yan Yao
Xinhai Gao
Hao Luan
Xue Wang
Lijuan Liu
Changgang Sun
author_facet Tianhua Wang
Yan Yao
Xinhai Gao
Hao Luan
Xue Wang
Lijuan Liu
Changgang Sun
author_sort Tianhua Wang
collection DOAJ
description Abstract Background Although several preclinical and epidemiological studies have shown that blood lipids and lipid-lowering drugs can reduce the risk of breast cancer, this finding remains controversial. This study aimed to explore the causal relationship between dyslipidemia,lipid-lowering drugs, and breast cancer. We also aimed to evaluate the potential impact of lipid-lowering drug targets on breast cancer. Method Data of 431 lipid- and lipid-related phenotypes were obtained from genome-wide association study (GWAS), and mendelian randomization (MR) analyses were performed using two independent breast cancer datasets as endpoints. Genetic variants associated with genes encoding lipid-lowering drug targets were extracted from the Global Lipid Genetics Consortium. Expression quantitative trait loci data in relevant tissues were used to further validate lipid-lowering drug targets that reached significance and combined with bioinformatics approaches for molecular expression and prognostic exploration. Further mediation analyses were performed to explore potential mediators. Result In two independent datasets, phosphatidylcholine (18:1_0:0 levels) was associated with breast cancer risk (discovery: odds ratio (OR) = 1.255 [95% confidence interval (CI) 1.120–1.406]; p = 8.936 × 10–5, replication: OR = 1.016 [95% CI, 1.003–1.030]; p = 0.017), HMG- CoA reductase (HMGCR) inhibition was genetically modeled and associated with a reduced risk of breast cancer (discovery: OR = 0.833 [95% CI 0.752–0.923], p = 5.12 × 10–4; replication: OR = 0.975 [95% CI 0.960–0.990], p = 1.65 × 10–3). There was a significant MR correlation between HMGCR expression in whole blood and breast cancer (OR = 1.11 [95% 1.01–1.22] p = 0.04). Bioinformatics analysis revealed that HMGCR expression higher in breast cancer tissues than in normal tissues, along with poor overall survival and relapse-free survival, and was associated with multiple immune cell infiltration. Finally, the mediation analysis showed that HMGCR inhibitors affected breast cancer through different immune cell phenotypes and C-reactive protein levels. Conclusion In this study, we found for the first time that phosphatidylcholine (18:1_0:0) levels are associated with breast cancer risk. We found that HMGCR inhibitors are associated with a reduced risk of breast cancer, and part of their action may be through pathways other than lipid-lowering, including modulation of immune function and reduction of inflammation represented by C-reactive protein levels.
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spelling doaj-art-2ad8727b737b4543a9a2f3da5ec489752025-08-20T02:41:34ZengSpringerDiscover Oncology2730-60112025-03-0116111610.1007/s12672-025-02041-0Genetic association of lipids and lipid-lowering drug target genes with breast cancerTianhua Wang0Yan Yao1Xinhai Gao2Hao Luan3Xue Wang4Lijuan Liu5Changgang Sun6College of First Clinical Medicine, Shandong University of Traditional Chinese MedicineDepartment of Oncology, Weifang Traditional Chinese HospitalCollege of First Clinical Medicine, Shandong University of Traditional Chinese MedicineInnovation Research Institute of Traditional Chinese Medicine, Shandong University of Traditional Chinese MedicineCollege of Traditional Chinese Medicine, Shandong Second Medical UniversityCollege of First Clinical Medicine, Shandong University of Traditional Chinese MedicineDepartment of Oncology, Weifang Traditional Chinese HospitalAbstract Background Although several preclinical and epidemiological studies have shown that blood lipids and lipid-lowering drugs can reduce the risk of breast cancer, this finding remains controversial. This study aimed to explore the causal relationship between dyslipidemia,lipid-lowering drugs, and breast cancer. We also aimed to evaluate the potential impact of lipid-lowering drug targets on breast cancer. Method Data of 431 lipid- and lipid-related phenotypes were obtained from genome-wide association study (GWAS), and mendelian randomization (MR) analyses were performed using two independent breast cancer datasets as endpoints. Genetic variants associated with genes encoding lipid-lowering drug targets were extracted from the Global Lipid Genetics Consortium. Expression quantitative trait loci data in relevant tissues were used to further validate lipid-lowering drug targets that reached significance and combined with bioinformatics approaches for molecular expression and prognostic exploration. Further mediation analyses were performed to explore potential mediators. Result In two independent datasets, phosphatidylcholine (18:1_0:0 levels) was associated with breast cancer risk (discovery: odds ratio (OR) = 1.255 [95% confidence interval (CI) 1.120–1.406]; p = 8.936 × 10–5, replication: OR = 1.016 [95% CI, 1.003–1.030]; p = 0.017), HMG- CoA reductase (HMGCR) inhibition was genetically modeled and associated with a reduced risk of breast cancer (discovery: OR = 0.833 [95% CI 0.752–0.923], p = 5.12 × 10–4; replication: OR = 0.975 [95% CI 0.960–0.990], p = 1.65 × 10–3). There was a significant MR correlation between HMGCR expression in whole blood and breast cancer (OR = 1.11 [95% 1.01–1.22] p = 0.04). Bioinformatics analysis revealed that HMGCR expression higher in breast cancer tissues than in normal tissues, along with poor overall survival and relapse-free survival, and was associated with multiple immune cell infiltration. Finally, the mediation analysis showed that HMGCR inhibitors affected breast cancer through different immune cell phenotypes and C-reactive protein levels. Conclusion In this study, we found for the first time that phosphatidylcholine (18:1_0:0) levels are associated with breast cancer risk. We found that HMGCR inhibitors are associated with a reduced risk of breast cancer, and part of their action may be through pathways other than lipid-lowering, including modulation of immune function and reduction of inflammation represented by C-reactive protein levels.https://doi.org/10.1007/s12672-025-02041-0LipidsLipid-lowering drugsBreast cancerMendelian randomization
spellingShingle Tianhua Wang
Yan Yao
Xinhai Gao
Hao Luan
Xue Wang
Lijuan Liu
Changgang Sun
Genetic association of lipids and lipid-lowering drug target genes with breast cancer
Discover Oncology
Lipids
Lipid-lowering drugs
Breast cancer
Mendelian randomization
title Genetic association of lipids and lipid-lowering drug target genes with breast cancer
title_full Genetic association of lipids and lipid-lowering drug target genes with breast cancer
title_fullStr Genetic association of lipids and lipid-lowering drug target genes with breast cancer
title_full_unstemmed Genetic association of lipids and lipid-lowering drug target genes with breast cancer
title_short Genetic association of lipids and lipid-lowering drug target genes with breast cancer
title_sort genetic association of lipids and lipid lowering drug target genes with breast cancer
topic Lipids
Lipid-lowering drugs
Breast cancer
Mendelian randomization
url https://doi.org/10.1007/s12672-025-02041-0
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AT haoluan geneticassociationoflipidsandlipidloweringdrugtargetgeneswithbreastcancer
AT xuewang geneticassociationoflipidsandlipidloweringdrugtargetgeneswithbreastcancer
AT lijuanliu geneticassociationoflipidsandlipidloweringdrugtargetgeneswithbreastcancer
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