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Hum. Reprod. Advance Access published online on December 17, 2004
Human Reproduction, doi:10.1093/humrep/deh696
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Human Reproduction © European Society of Human Reproduction and Embryology 2004; all rights reserved
Received November 3, 2004
Revised November 17, 2004
Accepted November 30, 2004

Article

Recurrent pregnancy failure is associated with a polymorphism in the p53 tumour suppressor gene

Detlef Pietrowski 1*, Hertha Bettendorf 1, Eva-Katrin Riener 1, Christoph Keck 1, Lukas A. Hefler 2, Johannes C. Huber 2, and Clemens Tempfer 3

1 Department of Obstetrics and Gynecology, University of Freiburg School of Medicine, Freiburg, Germany
2 Department of Obstetrics and Gynecology, University of Vienna School of Medicine, Vienna, Austria
3 Department of Obstetrics and Gynecology, University of Freiburg School of Medicine, Freiburg, Germany; Department of Obstetrics and Gynecology, University of Vienna School of Medicine, Vienna, Austria

* To whom correspondence should be addressed.
Detlef Pietrowski, E-mail: pietrowski{at}frk.ukl.uni-freiburg.de


  Abstract

BACKGROUND: The p53 tumour suppressor gene is a well-known factor regulating apoptosis in a wide variety of cells and tissues. Alterations in the p53 gene are among the most common genetic changes in human cancers. In addition, recent data provide evidence that p53 plays a critical role in mediating pregnancy by regulating steroid hormone activation. In idiopathic recurrent miscarriages (IRM), causes and associations are much debated as the exact pathophysiological mechanisms are unknown. In this study, we assess whether an established polymorphism in the p53 gene is associated with the occurrence of IRM. METHODS: Genotyping was performed by PCR-based amplification of the p53 Arg and Pro variants at codon 72 in 175 cases of IRM and 143 controls. RESULTS: We observed a statistically significant association between carriage of the Pro allele and the occurrence of IRM (P=0.03, odds ratio 1.49, confidence interval 1.04-2.14). Distribution of genotypes was in Hardy-Weinberg equilibrium. CONCLUSIONS: Our results indicate an over-representation of the Pro allele of the p53 gene in women with IRM, giving support to the theory that p53 has a potential role during pregnancy.

Keywords: apoptosis; genotyping; idiopathic recurrent miscarriage; p53; pregnancy.
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