Lipid, haemostatic and inflammatory variables in relation to the estrogen receptor alpha (ESR1) PvuII and XbaI gene polymorphisms

Background: Estrogen is known to affect lipoprotein metabolism, the haemostatic system and inflammatory markers. Our aim was to determine whether estrogen receptor ? (ESR1) PvuII and XbaI gene polymorphisms can influence lipid, haemostatic and inflammatory variables in healthy Caucasian women and men of reproductive age. Methods: 58 healthy women (aged between 18 and 45 years) and 55 healthy men (aged between 21 and 45 years) of reproductive age were enrolled in our study. FSH levels, lipid (total cholesterol, triglyceride, HDL cholesterol, lipoprotein(a), apo A-I, apo B), haemostatic (prothrombin time, activated partial thromboplastin time (aPTT), thrombin time, fibrinogen, factor V, VII, VIII, protein C, protein S, antithrombin III) and inflammatory (CRP) variables were measured on autoanalyzers using commercially available kits. Serum VLDL and LDL cholesterol concentrations were calculated with the equation of Friedewald. The ESR1 PvuII and XbaI genotypes were determined with PCR-RFLP method. Results: In the total group, the ESR1 XbaI GG genotype carriers had significantly higher serum lipoprotein(a) concentrations than the AA or AG genotype carriers. Serum total cholesterol concentrations were significantly higher in healthy women with the PvuII CC genotype than in those with the TT or TC genotypes, whereas healthy women with the GG genotype of the ESR1 XbaI polymorphism had significantly higher serum total cholesterol and LDL cholesterol levels compared to those with the AA or AG genotypes. No other effects of the ESR1 PvuII and XbaI polymorphisms were found on the investigated lipid, haemostatic and inflammatory variables either in the total group or in women and men separately. Conclusions: The ESR1 PvuII and XbaI gene polymorphisms seem to affect lipoprotein metabolism in healthy subjects of peak reproductive age. However, further studies are needed to determine the molecular mechanisms by which the two polymorphisms could influence serum lipid levels. ? 2007 Elsevier B.V. All rights reserved