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Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage

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Abstract

Purpose

This study investigated genetic variations in the estrogen pathway and their association with miscarriages.

Methods

A total of 483 patients were recruited from a comprehensive control group for case–control studies. Three variants of the CYP19A1 gene (rs10046, rs4646 and rs700519) and one variant each of the estrogen (ESR1) and progesterone (PGR) receptor genes (rs3020314 and rs1042838) were investigated using polymorphism genotyping. The chi-squared test and one-way analysis of variation (ANOVA) were used for statistical analysis.

Results

For rs10046 (CYP19A1), the C/C genotype was associated with a greater frequency of miscarriages (P = 0.017). The other genotypes were not found to be associated with recurrent miscarriage.

Conclusions

This is the first study that has identified a single-nucleotide polymorphism in the aromatase gene that suggests a significant association between genotypes and miscarriage. As aromatase is an essential enzyme in the estrogen pathway, it may be speculated that variations in the aromatase gene in some way give rise to different conditions in the endocrine environment that can lead to impaired fertility.

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Acknowledgment

Research for this paper was funded in part by the ELAN Fund at Friedrich Alexander University, Erlangen, Germany.

Conflict of interest statement

None.

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Authors and Affiliations

  1. Department of Gynecology and Obstetrics, Erlangen University Hospital, Universitaetsstrasse 21–23, 91054, Erlangen, Bavaria, Germany

    S. Cupisti, Peter A. Fasching, P. L. Strissel, C. R. Loehberg, R. Strick, J. Engel, R. Dittrich, M. W. Beckmann & T. W. Goecke

  2. Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany

    A. B. Ekici

Authors
  1. S. Cupisti
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  2. Peter A. Fasching
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  3. A. B. Ekici
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  4. P. L. Strissel
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  5. C. R. Loehberg
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  6. R. Strick
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  7. J. Engel
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  8. R. Dittrich
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  9. M. W. Beckmann
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  10. T. W. Goecke
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Corresponding author

Correspondence to Peter A. Fasching.

Additional information

S. Cupisti and P. A. Fasching contributed equally to this work.

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Cupisti, S., Fasching, P.A., Ekici, A.B. et al. Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage. Arch Gynecol Obstet 280, 395–400 (2009). https://doi.org/10.1007/s00404-009-0927-1

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  • DOI: https://doi.org/10.1007/s00404-009-0927-1

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