Exploring the Relationship Between MDM4 Gene Polymorphisms (rs1380576 and rs4245739) and Breast Cancer Susceptibility...

Breast cancer (BC) is the most common malignancy among Bangladeshi women. MDM4 gene polymorphisms have been implicated in BC susceptibility, but data from South Asian populations remain limited.

This case-control study included 112 BC patients from a cancer hospital, Dhaka, Bangladesh, and 124 age- and sex-matched healthy controls (HC) from the surrounding areas. Genotyping of MDM4 rs1380576 and rs4245739 polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

Genotype distributions of both polymorphisms conformed to Hardy-Weinberg equilibrium. No association was observed for rs4245739 A>C under any genetic model. In contrast, rs1380576 C>G showed an increased BC risk for CC versus GG (aOR = 3.93; 95% CI = 2.09-7.38; p < 0.001) and for CG + CC versus GG (aOR = 2.04; 95% CI = 1.19-3.50; p = 0.009). The recessive model also indicated elevated risk for CC carriers (aOR = 4.58; 95% CI = 2.46-8.55). A protective effect was observed for the heterozygous genotype in the over-dominant model (aOR = 0.11; 95% CI = 0.02-0.47; p = 0.003).

The MDM4 rs1380576 C>G polymorphism, particularly the CC genotype, is associated with increased BC risk in Bangladeshi women, whereas rs4245739 A>C shows no association. These findings suggest rs1380576 may serve as a potential genetic marker for BC susceptibility in this population.