PT - JOURNAL ARTICLE AU - Sony Kadiam AU - Thirunavukkarasu Ramasamy AU - Revathi Ramakrishnan AU - Jayalakshmi Mariakuttikan TI - Association of <em>HLA-G</em> 3'UTR 14-bp Ins/Del polymorphism with breast cancer among South Indian women AID - 10.1136/jclinpath-2019-205772 DP - 2019 Dec 03 TA - Journal of Clinical Pathology PG - jclinpath-2019-205772 4099 - http://jcp.bmj.com/content/early/2019/12/03/jclinpath-2019-205772.short 4100 - http://jcp.bmj.com/content/early/2019/12/03/jclinpath-2019-205772.full AB - 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 HLA-G and promoter region of TNF-α 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 HLA-G 3'UTR (14-bp Ins/Del and +3142 C/G) and TNF-α 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 HLA-G and TNF-α polymorphisms were performed by direct PCR DNA amplification and amplification refractory mutation system PCR methods, respectively.Results Significantly higher frequencies of HLA-G 14-bp Ins allele and Ins/+3142G haplotype were observed in patients with breast cancer than healthy controls (OR=1.56, Pc=0.036) and patients with benign breast disorder (OR=1.47, Pc=0.046). Similarly, subgroup analysis based on age at diagnosis (age≤50 years and &gt;50 years) of breast cancer revealed higher frequencies of 14-bp Ins allele and Ins/+3142G haplotype in the patients of age &gt;50 years than healthy controls (OR=1.77, Pc=0.03). Additionally, the extended haplotypes and multifactor dimensionality reduction analysis of the studied polymorphisms revealed significant contribution of HLA-G 14-bp Ins/Del polymorphism towards breast cancer risk.Conclusion The findings of the present study suggest that the HLA-G 14-bp Ins/Del polymorphism could influence breast cancer pathogenesis among South Indian women.