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The role of genetic and autoimmune factors in premature ovarian failure

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

Abstract

Purpose

To identify the role of both genetic (number of CGG repeats in the FMR1 gene) and autoimmune factors (anti-ovarian antibodies) in premature ovarian failure (POF).

Methods

In cross-sectional study, 78 women with POF were divided into 3 groups by the number of CGG repeats (less than 28, 28–36, more than 36) in any of the FMR1 gene alleles. We performed the detection of skewed X-chromosome inactivation, CGG repeats in the FMR1 gene, anti-ovarian antibodies (AOA) and sex hormones tests.

Results

Compared to a higher or lower number of CGG repeats the 28–36 triple CGG counts are strongly associated with the AOA detection (RR = 19.23, 95 % CI = 2.63–100.0). The women with autoimmune-driven POF have significantly higher anti-Mullerian hormone levels in comparison to women with non-autoimmune-driven POF.

Conclusion

The presence of AOA above 10 IU/mL is associated with the normal number of CGG repeats in regard to ovarian reserve and a better preservation of follicular primordial pool in the women with POF.

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Acknowledgements

Funding for this study was provided by Ministry of Health of the Russian Federation (grant # 2010-06 reg. #01201066000).

The authors thank Tatyana Y. Ivanets, M.D., Ph.D., the Chief of Scientific-Diagnostic Laboratory of the RCOGP for the assistance in the implementation of the study.

Declaration

The authors report no financial or commercial conflicts of interest

Author information

Authors and Affiliations

  1. The Research Center for Obstetrics, Gynecology and Perinatology, the Ministry of Health of the Russian Federation, Oparina st. 4, Moscow, Russian Federation, 117997

    Nigyar N. Shamilova, Larisa A. Marchenko, Nataliya V. Dolgushina & Gennady T. Sukhikh

  2. I.M. Sechenov First Moscow State Medical University, State Educational Institution of Higher Professional Training of the Ministry of Health of the Russian Federation, Moscow, Russia

    Dmitry V. Zaletaev

Authors
  1. Nigyar N. Shamilova
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  2. Larisa A. Marchenko
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  3. Nataliya V. Dolgushina
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  4. Dmitry V. Zaletaev
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  5. Gennady T. Sukhikh
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Corresponding author

Correspondence to Nataliya V. Dolgushina.

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Capsule

Detection of anti-ovarian antibodies is associated with the normal number of CGG repeats in regard to ovarian reserve and a better preservation of follicular primordial pool in the women with premature ovarian failure.

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Shamilova, N.N., Marchenko, L.A., Dolgushina, N.V. et al. The role of genetic and autoimmune factors in premature ovarian failure. J Assist Reprod Genet 30, 617–622 (2013). https://doi.org/10.1007/s10815-013-9974-4

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  • DOI: https://doi.org/10.1007/s10815-013-9974-4

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