title: Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum.
abstract: Deep vein thrombosis (DVT) is a serious pregnancy-related complication. Recent studies indicate that the genetic background for DVT differs with ethnicity. In our study, we enrolled 18 consecutive Japanese patients who had developed DVT during pregnancy and postpartum. We performed a genetic analysis of three candidate genes for DVT, protein S, protein C and antithrombin, in these patients. We found that four patients had missense mutations in the protein S gene, including the K196E mutation in two patients, the L446P mutation in one patient, and the D79Y and T630I mutations in one patient, as well as one patient with the C147Y mutation in the protein C gene. All five patients with genetic mutations had DVT in their first two trimesters. Nine of the patients without genetic mutations developed DVT in the first two trimesters, and four in the postpartum period. Thus, genetic mutations in the protein S gene were predominant in pregnant Japanese DVT women, and DVT in pregnant women with genetic mutations occurred more frequently at the early stage of pregnancy than postpartum. Considering the rapid decrease in protein S activity during pregnancy, we may need to assess thrombophilia in women before pregnancy.
authors.affiliation: Department of Perinatology and Gynecology, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan. rneki@hsp.ncvc.go.jp.
authors.forename: Reiko
authors.initials: R
authors.lastname: Neki
authors.affiliation: Department of Maternal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
authors.forename: Tomio
authors.initials: T
authors.lastname: Fujita
authors.affiliation: Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Kokame
authors.affiliation: Department of Maternal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
authors.forename: Isao
authors.initials: I
authors.lastname: Nakanishi
authors.affiliation: Department of Maternal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Waguri
authors.affiliation: Department of Clinical Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
authors.forename: Yuzo
authors.initials: Y
authors.lastname: Imayoshi
authors.affiliation: Department of Obstetrics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Suehara
authors.affiliation: Department of Perinatology and Gynecology, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Ikeda
authors.affiliation: Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyata
mesh_terms: D044466:Asian People / Q000235:genetics; D015415:Biomarkers; D005260:Female; D005820:Genetic Testing; D006801:Humans; D050505:Mutant Proteins / Q000032:analysis*; D049590:Postpartum Period / Q000097:blood / Q000235:genetics; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D017293:Protein S / Q000235:genetics*; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics; D020246:Venous Thrombosis / Q000097:blood / Q000208:ethnology / Q000235:genetics*
chemical_list: D015415:Biomarkers; D050505:Mutant Proteins; D017293:Protein S