Background: The estrogen receptor alpha 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 alpha 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.