Association of 3'UTR 14-bp Ins/Del polymorphism with breast cancer among South Indian women.

AIM

Human leucocyte antigen-G (HLA-G) and tumour necrosis factor-alpha (TNF-α) are potent immune mediators implicated in the pathogenesis of breast cancer. The polymorphisms in the 3' untranslated region (3'UTR) of and promoter region of are well known to influence their expression levels and may consequently contribute to varied disease predisposition. Therefore, in the present study, we explored the effect of 3'UTR (14-bp Ins/Del and +3142 C/G) and promoter (-238 G/A and -308 G/A) polymorphisms on breast cancer risk among South Indian women.

METHODS

A total of 342 women (100 patients with breast cancer, 142 patients with benign breast disorder and 100 healthy women volunteers) were enrolled for this study. Genotyping of and polymorphisms were performed by direct PCR DNA amplification and amplification refractory mutation system PCR methods, respectively.

RESULTS

Significantly higher frequencies of 14-bp Ins allele and Ins/+3142G haplotype were observed in patients with breast cancer than healthy controls (OR=1.56, P=0.036) and patients with benign breast disorder (OR=1.47, P=0.046). Similarly, subgroup analysis based on age at diagnosis (age≤50 years and >50 years) of breast cancer revealed higher frequencies of 14-bp Ins allele and Ins/+3142G haplotype in the patients of age >50 years than healthy controls (OR=1.77, P=0.03). Additionally, the extended haplotypes and multifactor dimensionality reduction analysis of the studied polymorphisms revealed significant contribution of 14-bp Ins/Del polymorphism towards breast cancer risk.

CONCLUSION

The findings of the present study suggest that the 14-bp Ins/Del polymorphism could influence breast cancer pathogenesis among South Indian women.