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Association of HLA-G 3'UTR 14-bp Ins/Del polymorphism with breast cancer among South Indian women
  1. Sony Kadiam1,
  2. Thirunavukkarasu Ramasamy1,
  3. Revathi Ramakrishnan2,
  4. Jayalakshmi Mariakuttikan1
  1. 1 Department of Immunology, Madurai Kamaraj University, Madurai, India
  2. 2 Department of Pathology, Government Theni Medical College, Theni, India
  1. Correspondence to Dr Jayalakshmi Mariakuttikan, Immunology, Madurai Kamaraj University, Madurai 625021, India; jayalakshmim{at}


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 >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, 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.

  • HLA-G
  • TNF-α
  • polymorphism
  • breast cancer
  • South India

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  • Handling editor Cheok Soon Lee.

  • Contributors SK contributed to study design, sample collection, genotyping, data analysis, data interpretation and drafted this manuscript. TR contributed to genotyping and data analysis. RR contributed to recruitment of patient samples. JM contributed to study design, provided guidance and critically reviewed the manuscript. All authors agree to be accountable for all aspects of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Ethics approval All the procedures involving human participants have been approved by the appropriate ethics committees and were performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

  • Provenance and peer review Not commissioned; externally peer reviewed.