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Association between fragile X premutation and premature ovarian failure: a case–control study and meta-analysis

  • General Gynecology
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Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Aim

The aim of the present study was to investigate the association between FMR1 premutation and premature ovarian failure (POF) patients in Indian population, and a meta-analysis of published results was undertaken to clarify whether FMR1 premutation consistently contributed to the susceptibility.

Methods

A total of 289 POF samples and 360 control samples were included in the study. Repeat variation was checked using GeneScan technique. Results were analyzed with GeneMapper software. Meta-analysis was performed using the Open Meta-Analyst and STATA 12.0 software. The crude odds ratio with 95 % confidence interval (CI) was computed to assess the strength of the associations.

Results

The assayed case and control population showed 29 different CGG repeat sizes (alleles), ranging from 7 to 40. Within this population, we found that the CGG repeat length polymorphisms were within the normal range of 6–55 in both patients as well as control samples. Eleven case–control studies were included in the meta-analysis with a total of 1,313 POF cases and 3,132 control subjects. Our meta-analysis revealed that there was a significant difference in the incidence of FMR1 premutation between POF cases and control subjects with p value <0.001 (OR 5.41; 95 % CI 2.53, 11.61).

Conclusions

We found no significant association between FMR1 CGG repeat premutation and POF in Indian population. However, the meta-analysis showed an increased risk of POF associated with a premutation, especially among populations from European descent. Further functional research should be performed to explain the inconsistent results in different ethnicities and POF susceptibility.

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Acknowledgments

We would like to thank Dr. Andrew Shelling at School of Medicine, The University of Auckland, for his helpful suggestions in the preparation of manuscript. D T would like to thank G. R. Saranya for her help during the study. Financial assistance from Indian Council of Medical Research (ICMR), New Delhi, to D T, in the form of ICMR-SRF is gratefully acknowledged.

Conflict of interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Biology Division, CSIR-Indian Institute of Chemical Technology, Uppal Road, Hyderabad, 500 007, India

    Durgadatta Tosh, U. S. N. Murty & Paramjit Grover

  2. Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, 500 007, India

    Durgadatta Tosh & K. Lakshmi Rao

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

    Durgadatta Tosh & H. Surekha Rani

  4. Infertility Institute and Research Center, Secunderabad, India

    D. Anupama Deenadayal

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  1. Durgadatta Tosh
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  2. K. Lakshmi Rao
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Correspondence to Paramjit Grover.

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Tosh, D., Rao, K.L., Rani, H.S. et al. Association between fragile X premutation and premature ovarian failure: a case–control study and meta-analysis. Arch Gynecol Obstet 289, 1255–1262 (2014). https://doi.org/10.1007/s00404-014-3145-4

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  • DOI: https://doi.org/10.1007/s00404-014-3145-4

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