Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss

Franca Franchi, Eugenia Biguzzi, Irene Cetin, Floriana Facchetti, Tatjana Radaelli, Maddalena Bozzo, Giorgio Pardi, Elena M. Faioni

Research output: Contribution to journalArticlepeer-review


Late fetal loss can be associated with placental insufficiency and coagulation defects. Thrombomodulin (TM) and the endothelial protein C receptor (EPCR) are glycoprotein receptors expressed mainly on the endothelial surface of blood vessels and also in the placenta; they both play a key physiological role in the protein C anticoagulant pathway. Defects in these proteins might play an important role in the pathogenesis of late fetal loss. We performed a case-control study in 95 women with unexplained late fetal loss (>20 weeks), to elucidate whether TM or EPCR gene mutations were associated with an increased risk for this complication of pregnancy. The control group comprised 236 women who gave birth to at least one healthy baby and had no history of late fetal death or obstetrical complications. The entire TM and EPCR genes, including the promoter region, were screened. In total, five mutations were identified in the TM gene in 95 patients and three in 236 control subjects, and two mutations were identified in the EPCR gene in 95 patients and one in 236 control subjects. The relative risk for late fetal loss when having a mutation in the TM or EPCR gene was estimated by an odds ratio of 4.0 (95% CI 1.1-14.9). In conclusion, identified mutations in the TM and EPCR genes of women with unexplained fetal loss are more prevalent compared with women with no obstetrical complications.

Original languageEnglish
Pages (from-to)641-646
Number of pages6
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - 2001


  • Endothelial protein C receptor
  • Gene mutations
  • Late fetal loss
  • Thrombomodulin
  • Thrombosis

ASJC Scopus subject areas

  • Hematology


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