Candidate gene polymorphisms and the risk for pregnancy‐related venous thrombosis

Summary 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 ( SNP s) 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 SNP s and total pregnancy‐related VT in the genes encoding coagulation factors V and VIII , and p‐selectin. Additional new associations between SNP s and antenatal VT were found in the genes encoding the epidermal growth factor receptor, the pregnane X receptor, and protein S . Of 21 SNP s previously associated with thrombotic disease, rs2289252 in F 11 and rs3917643 in F 3 were associated with pregnancy‐related VT , while rs4524 in F 5 was associated with antenatal VT .