Overrepresentation of BclI polymorphism of the glucocorticoid receptor gene in pregnant women with HELLP syndrome

Background: Because the pathological background of preeclampsia and its severe variant HELLP syndrome (hemolysis, elevated liver enzymes and low platelet counts) appears to involve a pathological maternal-fetal immune adaptation, we examined whether any association could exist between these disorders and polymorphisms of the glucocorticoid receptor (GR) gene. Methods: The BclI, N363S, and ER22/23EK polymorphisms of the GR gene were determined in 300 healthy pregnant women, 150 pregnant women with severe preeclampsia including 17 pregnant women with HELLP syndrome. Results: There were no significant differences in carrier and allelic frequencies of the N363S and ER22/23EK polymorphisms between healthy pregnant women and those with severe preeclampsia. However, the allelic and carrier frequencies of the BclI polymorphism were significantly higher in women with HELLP syndrome compared to healthy pregnant women (p = 0.004; Odds ratio, 2.89) and to those with severe preeclampsia (p = 0.013; Odds ratio, 2.56). Conclusion: Our observations suggest that among pregnant women, the BclI polymorphism, is associated with the development of HELLP syndrome, but not that of severe preeclampsia. Since preeclampsia and HELLP syndrome develop exclusively in human, it seems particularly interesting that alignment analysis of DNA sequences obtained from databases indicated the absence of the BclI site in 6 animal vertebral species. (c) 2009 Elsevier B.V. All rights reserved.