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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Editorial Board Member: Gillery, Philippe / Kazmierczak, Steven / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Whitfield, John B.

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Genotype distribution of estrogen receptor α polymorphisms in pregnant women from healthy and preeclampsia populations and its relation to blood pressure levels

Juan Zhang1 / Huai Bai1 / Xinghui Liu2 / Ping Fan1 / Rui Liu3 / Yi Huang1 / Xiaosu Wang1 / Guolin He2 / Yu Liu4 / Bingwen Liu4

1Unit of Laboratory Medicine, West China Second Hospital, Sichuan University, Sichuan, PR China

2Department of Obstetrics and Gynecology, West China Second Hospital, Sichuan University, Sichuan, PR China

3Division of Peptides Related with Human Disease, West China Hospital, Sichuan University, Sichuan, PR China

4Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Sichuan, PR China

Corresponding author: Dr. Huai Bai, Unit of Laboratory Medicine, West China Second Hospital, Sichuan University, Chengdu 610041, Sichuan, PR China Phone: +86-28-85503259, Fax: +86-28-85559065,

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 47, Issue 4, Pages 391–397, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2009.096, March 2009

Publication History

Published Online:


Background: The estrogen receptor α gene (ESR1) seems to be a potential candidate in altering risk for preeclampsia due to important estrogenic biological effects. Despite its previously reported association with severe preeclampsia in combined genotype in one selected ethnic group, further studies in other populations are required. The objective of this study was to investigate the relationship of the gene polymorphisms of the estrogen receptor α with preeclampsia in a southwest Chinese population.

Methods: We genotyped two polymorphisms in the ESR1 gene (PvuII and XbaI) by polymerase chain reaction-restriction fragment length polymorphism analysis in a Chinese population.

Results: In the case-control study which included 204 preeclampsia case subjects and 236 normal control subjects, the frequencies of allele T for the PvuII site and allele G for the XbaI site in the patients (41.67% and 23.53%, respectively) were similar to those observed in controls (43.01% and 19.70%, respectively). Furthermore, the combined genotype analysis of ESR1 PvuII and XbaI polymorphisms showed no increased risk of either severe or total preeclampsia in our study populations. However, it showed that the CC homozygotes and CT heterozygotes in control pregnant women had higher systolic blood pressure levels than TT homozygotes for the PvuII site after adjustment for age and body mass index (p<0.05).

Conclusions: Our work does not provide evidence in favor of ESR1 PvuII and XbaI being associated with preeclampsia but with increased blood pressure levels in normal pregnant women, in a southwest Chinese population.

Clin Chem Lab Med 2009;47:391–7.

Keywords: estrogen receptor α gene (ESR1); polymorphism; preeclampsia; pregnancy induced hypertension

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