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BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To investigate the role of genetic variations and expression alterations of BRCA1 and BRCA2 genes in the pathophysiology of endometriosis.

Methods

A genetic association study was conducted in 573 endometriosis cases and 490 controls of Indian origin. We genotyped 13 selected promoter SNPs of BRCA1 gene and 2 selected promoter SNPs of BRCA2 gene by PCR-sequencing analysis. In addition, to better understand genetic contributions to the pathophysiology of endometriosis, the expression pattern of BRCA1 & 2 was analyzed in the eutopic endometria of endometriosis cases and controls by western-blot and immunohistochemical analysis.

Results

Our results revealed significant association between BRCA1 rs71361504 (−/GTT) SNP and endometriosis risk in Indian women (P < 0.0001), while the remaining SNPs of both BRCA1 & 2 genes showed no difference between cases and controls. Western-blot and immunohistochemical analysis revealed significantly decreased BRCA1 expression levels in eutopic endometria of patients compared with controls (P < 0.05). Furthermore, nuclear BRCA1 was frequently lost compared with cytoplasmic BRCA1 in eutopic endometria of patients. Expression of BRCA2 did not differ between patients and controls.

Conclusions

BRCA1 rs71361504 SNP may modify the endometriosis risk in Indian women. In addition, decreased expression of BRCA1 may play an important role in the pathophysiology of endometriosis. The analysis of BRCA1 genetic variants and/or expression might help to identify patients at high risk for disease outcome.

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Acknowledgments

We are most grateful to all the patients who participated in the present study. Dr. Suresh Govatati would like to thank Council of Scientific and Industrial Research (CSIR), India for JRF (NET) and SRF (NET).

Conflict of interest

The authors declare that they have no conflict of interest.

Funding

This study was supported by grants from the Science & Engineering Research Board (SERB), India (Lr No: SR/FT/LS-188/2009) to M.B.

Author information

Authors and Affiliations

  1. Department of Biochemistry, Osmania University, Hyderabad, 500 007, India

    Suresh Govatati, Sunita B. Reddy, Kayathi Pramod & Manjula Bhanoori

  2. Department of Genetics, Osmania University, Hyderabad, 500 007, India

    Kiran Challa

  3. Infertility Institute and Research Centre (IIRC), Secundrabad, 500 003, India

    Mamata Deenadayal

  4. Institute of Reproductive Medicine (IRM), Kolkata, 700 064, India

    Baidyanath Chakravarty

  5. Centre for Cellular and Molecular Biology (CCMB), Hyderabad, 500 007, India

    Sisinthy Shivaji

  6. Jhaveri Microbiology Centre, L V Prasad Eye Institute, Hyderabad, 500034, India

    Sisinthy Shivaji

Authors
  1. Suresh Govatati
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  2. Kiran Challa
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  3. Sunita B. Reddy
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  4. Kayathi Pramod
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  5. Mamata Deenadayal
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  6. Baidyanath Chakravarty
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  7. Sisinthy Shivaji
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  8. Manjula Bhanoori
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Corresponding author

Correspondence to Manjula Bhanoori.

Additional information

Capsule BRCA1 alterations may modify the endometriosis risk in Indian women. The analysis of BRCA1 genetic variants and/or expression might help to identify patients at high risk for disease outcome.

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Govatati, S., Challa, K., Reddy, S.B. et al. BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population. J Assist Reprod Genet 32, 277–285 (2015). https://doi.org/10.1007/s10815-014-0379-9

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  • DOI: https://doi.org/10.1007/s10815-014-0379-9

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