This study investigated the prevalence of Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups (171 Caucasians and 27 Blacks, and 117 men and 81 women) and in patients with recurrent miscarriages (RM) (...This study investigated the prevalence of Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups (171 Caucasians and 27 Blacks, and 117 men and 81 women) and in patients with recurrent miscarriages (RM) (86 women: 53 Caucasians and 33 Blacks). Study groups were matched to control groups by race and age. The prevalence of these polymorphisms did not differ between patients with RM and controls or between Caucasian and blacks, suggesting that these polymorphisms cannot be considered a risk factor for RM.展开更多
背景：绝经后激素特代疗法能增加静脉中血栓形成的危险。目前，尚不清楚影响血栓形成的其他因素是否会进一步增加其危险性。目的：妇女健康启动项目之雌孕激素联合疗法临床试验（Women’s Health Initiative Estrogen Plus Progestin）...背景：绝经后激素特代疗法能增加静脉中血栓形成的危险。目前，尚不清楚影响血栓形成的其他因素是否会进一步增加其危险性。目的：妇女健康启动项目之雌孕激素联合疗法临床试验（Women’s Health Initiative Estrogen Plus Progestin）观察了静脉血栓的发病率以及存在其他血栓形成危险因素时激素替代疗法与静脉血栓形成之间的关系，现报道其最终数据资料。设计、地点及参试者：16608名50一79岁绝经后妇女纳入本随机、双盲、对照试验，她们于1993～1998年在美国40所临床中心接受了随访，为期5．6年。采用窠式病例对照研究，在基线时测定的147例女性血栓患者及513例对照者基因变异情况，这些基因变异均与血栓形成有关。干预：参试者随机分配0．625mg／d妊马雌酮（conjugated equine estrogen）＋2．5mg／d安宫黄体酮（medroxyprogesterone acetate）或安慰剂。主要观察指标：经证实的中央型深静脉血栓和肺栓塞。结果：167例联合应用雌孕激素者（3．5／1000人-年）及76例服用安慰剂者（1．7／1000人-年）出现静脉血栓；风险比（hazard ratio，HR）为2．06（95％可信区间[confidence interval，CT]，1．57—2．70）。激素替代疗法的危险性随患者年龄的增加而增加：与50-59岁服用安慰剂的妇女相比，60～69岁妇女的HR为4．28（95％CI，2．38～7．72），70—79岁妇女的HR为7．46（95％CI，4．32～14．38）。与服用安慰剂组体重正常的妇女相比，超重及肥胖妇女联合应用雌孕激素后相关危险性增加：HR分别为3．80（95％CI，2．08～6．94）和5．61（95％CI，3．12—10．11）。与安慰剂组未出现基因突变的妇女相比，凝血因子V基因的Leiden位点发生突变使激素诱发血栓形成的危险升高6．69倍（95％CI，3．09—14．49）。其他基因变异（凝血酶原基因20210A、甲基四氢叶酸还原酶基因C677T、凝血因子XⅢ基因Val34Leu、纤溶酶原激活剂抑制物1基因4G／5G、凝血因子VHR2）并不影响激素替代疗法与静脉血栓形成之间的父系。结论：雌孕激系联合疗法使患者发生静脉血栓的危险增加一倍。患者年龄较大、超重、肥胖、凝血因子V基因的Leiden位点发生突变均能增加雌孕激素联合疗法的危险。展开更多
文摘This study investigated the prevalence of Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups (171 Caucasians and 27 Blacks, and 117 men and 81 women) and in patients with recurrent miscarriages (RM) (86 women: 53 Caucasians and 33 Blacks). Study groups were matched to control groups by race and age. The prevalence of these polymorphisms did not differ between patients with RM and controls or between Caucasian and blacks, suggesting that these polymorphisms cannot be considered a risk factor for RM.
