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Mitochondrial complex I and V gene polymorphisms associated with breast cancer in mizo-mongloid population

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Abstract

Background

Mizoram has the highest incidence of cancer in India. Among women, breast cancer is most prevalent and the state occupies fifth position globally. The reason for high rate of cancer in this region is still not known but it may be related to ethnic/racial variations or lifestyle factors.

Methods

The present study aims to identify the candidate mitochondrial DNA (mtDNA) biomarkers—ND1and ATPase for early breast cancer diagnosis in Mizo population. Genomic DNA was extracted from blood samples of 30 unrelated breast cancer and ten healthy women. The mtNDI and mtATP coding regions were amplified by step-down PCR and were subjected to restriction enzyme digestion and direct sequencing by Sanger method. Subsequently, the results of the DNA sequence analysis were compared with that of the revised Cambridge Reference Sequence (rCRS) using Mutation Surveyor and MITOMAP.

Results

Most of the mutations were reported and new mutations that are not reported in relationship with breast cancer were also found. The mutations are mostly base substitutions. The effect of non-synonymous substitutions on the amino acid sequence was determined using the PolyPhen-2 software. Statistical analysis was performed for both cases and controls. Odds ratios (ORs) and 95 % confidence intervals (CIs) were estimated from logistic regression. High intake of animal fat and age at menarche was found to be associated with a higher risk of breast cancer in Mizo population.

Conclusion

Our results also showed that ATPase6 as compared to ATPase8 gene is far more predisposed to variations in Mizo population with breast cancer and this finding may play an important role in breast cancer prognosis.

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Acknowledgments

This study was supported by by the State Biotech Hub (BT/04/NE/2009) sponsored by the Department of Biotechnology (DBT), New Delhi, Govt. of India.

Conflict of interest

The authors report no conflict of interests. The authors alone are responsible for the content and writing of the paper.

Author information

Authors and Affiliations

  1. Department of Biotechnology, Mizoram University, Aizawl, 796004, Mizoram, India

    Sunaina Thapa, Freda Lalrohlui, Souvik Ghatak & Nachimuthu Senthil Kumar

  2. Department of Pathology, Civil Hospital, Aizawl, 796001, Mizoram, India

    John Zohmingthanga

  3. Mizoram State Cancer Institute, Zemabawk, Aizawl, 796017, Mizoram, India

    Doris Lallawmzuali & Jeremy L. Pautu

Authors
  1. Sunaina Thapa
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  2. Freda Lalrohlui
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  3. Souvik Ghatak
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  4. John Zohmingthanga
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  5. Doris Lallawmzuali
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  6. Jeremy L. Pautu
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  7. Nachimuthu Senthil Kumar
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Correspondence to Nachimuthu Senthil Kumar.

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Thapa, S., Lalrohlui, F., Ghatak, S. et al. Mitochondrial complex I and V gene polymorphisms associated with breast cancer in mizo-mongloid population. Breast Cancer 23, 607–616 (2016). https://doi.org/10.1007/s12282-015-0611-1

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  • DOI: https://doi.org/10.1007/s12282-015-0611-1

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