Association of Single Nucleotide Polymorphisms of the MDM4 Gene With the Susceptibility to Breast Cancer in a Southeast Iranian Population Sample

Introduction

The murine double minute 4 (MDM4) protein is a negative regulator of p53, and its upregulation has been observed in many tumor types. Previous literature suggested that genetic variations in the MDM4 gene are associated with risk of different cancers. The objective of the present study was to examine the effect of 3 common genetic variants of MDM4, rs4245739 A>C, rs11801299 G>A, and rs1380576 C>G, on the risk of breast cancer (BC) in a southeast Iranian population sample.

Patients and Methods

A total of 265 BC patients and 221 healthy women were included in this case-control study. We used polymerase chain reaction (PCR)-restriction fragment length polymorphism and tetra amplification refractory mutation system-PCR methods for detection of MDM4 polymorphisms.

Results

Our findings showed that rs1380576 C>G was associated with a reduced risk of BC using co-dominant (GC vs. CC: odds ratio [OR], 0.54; 95% confidence interval [CI], 0.34-0.84; P = .006; and GG vs. CC: OR, 0.49; 95% CI, 0.26-0.94; P = .044), dominant (CG+GG vs. CC: OR, 0.54; 95% CI, 0.35-0.82; P = .004), and allele models (G vs. C: OR, 0.74; 95% CI, 0.57-0.96; P = .025). However, our study failed to show any relationship between rs4245739 A>C and rs11801299 G>A variants and BC risk (P > .05). We also found no significant association between MDM4 variants and clinical characteristics of BC patients (P > .05).

Conclusion

Our findings proposed that the MDM4 rs1380576 C>G polymorphism was a protective factor for BC risk in our population. Additional studies with larger sample sizes and diverse ethnicities are required to confirm our findings.