Department of Haematology, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Br J Haematol. 2012 Jun;157(6):753-61. doi: 10.1111/j.1365-2141.2012.09121.x. Epub 2012 Apr 26.
Venous thrombosis (VT) is one of the leading causes of maternal death in the western world, but the genetic causes of pregnancy-related VT are insufficiently understood. The aim of this study was to investigate the association between common genetic variations in candidate genes and pregnancy-related VT. We undertook a hospital based case-control study of women with VT during pregnancy or puerperium; controls were women giving birth without having VT. Single nucleotide polymorphisms (SNPs) were selected in 49 pre-specified candidate genes involved in coagulation, inflammation, and hormonal metabolism in 313 cases and 353 controls. We found new associations between SNPs and total pregnancy-related VT in the genes encoding coagulation factors V and VIII, and p-selectin. Additional new associations between SNPs and antenatal VT were found in the genes encoding the epidermal growth factor receptor, the pregnane X receptor, and protein S. Of 21 SNPs previously associated with thrombotic disease, rs2289252 in F11 and rs3917643 in F3 were associated with pregnancy-related VT, while rs4524 in F5 was associated with antenatal VT.
静脉血栓栓塞症（VT）是西方世界导致产妇死亡的主要原因之一，但与妊娠相关 VT 的遗传原因尚不清楚。本研究旨在探讨候选基因中常见遗传变异与妊娠相关 VT 之间的关联。我们对妊娠或产褥期发生 VT 的妇女进行了基于医院的病例对照研究；对照组为未发生 VT 的分娩妇女。在 313 例病例和 353 例对照中，我们在 49 个预先指定的候选基因中选择了涉及凝血、炎症和激素代谢的单核苷酸多态性（SNP）。我们发现编码凝血因子 V 和 VIII 以及 p 选择素的基因中的 SNP 与总妊娠相关 VT 之间存在新的关联。在编码表皮生长因子受体、妊娠 X 受体和蛋白 S 的基因中，还发现了与产前 VT 之间的新关联 SNP。在先前与血栓性疾病相关的 21 个 SNP 中，F11 中的 rs2289252 和 F3 中的 rs3917643 与妊娠相关 VT 相关，而 F5 中的 rs4524 与产前 VT 相关。
