Oger Emmanuel, Lacut Karine, Mercier Bernard, Le Gal Grégoire, Leroyer Christophe, Pasquier Elisabeth, Férec Claude, Mottier Dominique
EPI-PHARM GETBO and GETBO EA-3878 (Groupe d'Etude de la Thrombose de Bretagne Occidentale), France.
Thromb Res. 2007;119(4):433-9. doi: 10.1016/j.thromres.2006.05.002. Epub 2006 Jun 9.
Association between estrogen receptor (ER) alpha polymorphism c.454-397 T>C and venous thromboembolism (VTE) has been reported in postmenopausal women. Comprehensive data are lacking. We herein evaluated the risk for VTE related to c.454-397 T>C ER alpha gene polymorphism in both men and women.
PATIENTS/METHODS: The EDITH Study enrolled consecutive patients, aged over 18 years, hospitalized between May 2000 and December 2004 in Brest University Hospital with an objectively proven symptomatic VTE. For each case, one control who matched the case for age within a five-year age band, gender and major acquired risk factors, was selected. The present analysis was restricted to 677 cases with a VTE event not related to major acquired risk factors and their matched controls.
The relationship between VTE and c.454-397 T>C ER alpha polymorphism was consistent with a dominant model in women and a recessive model in men. Adjusted conditional odds ratios (95% CI) were 1.37 (1.05-1.78) and 1.29 (0.85-1.94) for CT/CC genotypes in women and CC genotype in men respectively compared to TT genotype. Among women hormone use did not substantially modify effect-measure estimate. Our results further extend results from previous studies. Other investigations are required to precise underlying mechanisms.
绝经后女性中已报道雌激素受体（ER）α基因多态性c.454 - 397 T>C与静脉血栓栓塞症（VTE）之间存在关联。但缺乏全面的数据。我们在此评估了男性和女性中与c.454 - 397 T>C ERα基因多态性相关的VTE风险。
患者/方法：EDITH研究纳入了2000年5月至2004年12月期间在布雷斯特大学医院住院的连续患者，年龄超过18岁，经客观证实患有症状性VTE。对于每例患者，选择一名在年龄上与该病例相差不超过五岁、性别和主要后天危险因素相匹配的对照。本分析仅限于677例与主要后天危险因素无关的VTE事件患者及其匹配的对照。
VTE与c.454 - 397 T>C ERα基因多态性之间的关系在女性中符合显性模型，在男性中符合隐性模型。与TT基因型相比，女性CT/CC基因型和男性CC基因型的调整后条件比值比（95%CI）分别为1.37（1.05 - 1.78）和1.29（0.85 - 1.94）。在女性中，激素使用并未实质性改变效应测量估计值。我们的结果进一步扩展了先前研究的结果。需要进行其他研究以明确潜在机制。
