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01-09-2009 | Original Article

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

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

Published in: Archives of Gynecology and Obstetrics | Issue 3/2009

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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Title: Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage
Authors: S. Cupisti
Peter A. Fasching
A. B. Ekici
P. L. Strissel
C. R. Loehberg
R. Strick
J. Engel
R. Dittrich
M. W. Beckmann
T. W. Goecke
Publication date: 01-09-2009
Publisher: Springer-Verlag
Published in: Archives of Gynecology and Obstetrics / Issue 3/2009
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-009-0927-1

At a glance: The STEP trials

Springer Medicine

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

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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