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Association between the MDR1 rs1045642 polymorphism and breast cancer risk: An updated meta‑analysis
Lili Gong1, Gang Hu1, Lihua Xu1
1Department of Breast Surgery Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430016, P.R. China.
Abstract:
Multidrug resistance 1 (MDR1) is a transmembrane transporter on the cell membrane. As an ATP-dependent efflux pump, MDR1 is mainly responsible for the adsorption, distribution, metabolism, excretion and transportation of anticancer drugs to cancer cells. Mutations of the MDR1 gene may be associated with the incidence of cancer. In the past decade, associations found between the MDR1 rs1045642 polymorphism and breast cancer have been inconsistent and inconclusive. Therefore, the present study performed a meta-analysis including studies published up until August 16, 2023 to systematically evaluate the association between the MDR1 rs1045642 polymorphism and breast cancer risk. A total of 21 published case studies involving 6,815 patients with breast cancer and 9,227 healthy participants were included in the meta-analysis. Overall, the MDR1 rs1045642 polymorphism was not significantly associated with breast cancer-associated risk. However, in the subgroup analysis, the MDR1 rs1045642 polymorphism was found to be notably associated with a higher risk of breast cancer among Asian populations in recessive models [TT vs. CT + CC; odds ratio (OR)=1.393; 95% confidence interval (CI), 1.143-1.698; P=0.001; I2<25%]. The MDR1 C3435T polymorphism was also associated with a notable decrease in the incidence of breast cancer in mixed ethnicity populations (TT and CT + CC; OR=0.578; 95% CI, 0.390-0.856; P=0.006; I2<25%). In Caucasian populations, the MDR1 rs1045642 polymorphism was not associated with breast cancer risk. In conclusion, the present meta-analysis demonstrated that the MDR1 rs1045642 polymorphism may increase the risk of breast cancer in Asian populations, is associated with a reduced risk of breast cancer in mixed populations but has no notable effect in Caucasian populations.
Insights
The MDR1 rs1045642 gene polymorphism is not linked to overall breast cancer risk. However, it may increase risk in Asian populations and decrease risk in mixed ethnicities.
Area of Science:
- Genetics
- Oncology
- Pharmacogenomics
Background:
- The Multidrug Resistance 1 (MDR1) gene encodes an ATP-dependent efflux pump crucial for drug transport in cancer therapy.
- Mutations in the MDR1 gene, specifically the rs1045642 polymorphism, have been investigated for their potential association with cancer incidence.
- Previous studies on the MDR1 rs1045642 polymorphism and breast cancer risk have yielded inconsistent results.
Purpose of the Study:
- To systematically evaluate the association between the MDR1 rs1045642 polymorphism and breast cancer risk using a meta-analysis.
- To clarify the conflicting findings regarding the MDR1 rs1045642 polymorphism and its impact on breast cancer susceptibility.
Main Methods:
- A meta-analysis was conducted on 21 published case studies, including 6,815 breast cancer patients and 9,227 healthy controls.
- Data were analyzed up to August 16, 2023, to assess the overall and subgroup associations of the MDR1 rs1045642 polymorphism with breast cancer risk.
- Statistical analyses included odds ratios (OR), 95% confidence intervals (CI), and heterogeneity assessment (I²).
Main Results:
- Overall, the MDR1 rs1045642 polymorphism showed no significant association with breast cancer risk.
- Subgroup analysis revealed a notably higher breast cancer risk in Asian populations with the TT genotype (recessive model: OR=1.393, P=0.001).
- The MDR1 C3435T polymorphism was associated with reduced breast cancer incidence in mixed ethnicity populations (OR=0.578, P=0.006), but not in Caucasians.
Conclusions:
- The MDR1 rs1045642 polymorphism may influence breast cancer risk differently across ethnic groups.
- A potential increased risk was observed in Asian populations, while a decreased risk was noted in mixed ethnicity groups.
- No significant association was found in Caucasian populations, highlighting the need for ethnicity-specific genetic analyses in breast cancer research.
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