Tuberculosis and Respiratory Diseases

The Korean Academy of Tuberculosis and Respiratory Diseases (대한결핵및호흡기학회)
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A Case of Pulmonary Embolism in a Patient with a Factor VII Gene Promoter -401G/A Polymorphism

폐색전증 환자에서 발견된 Factor VII 유전자의 프로모터 -401G/A 다형성 1예

  • Min, Bo Ram (Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine) ;
  • Kim, Shin (Department of Immunology, Dongsan Medical Center, Keimyung University School of Medicine) ;
  • Park, Ji Hae (Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine) ;
  • Chae, Jin Nyeong (Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine) ;
  • Choi, Won Il (Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine)
  • 민보람 (계명대학교 의과대학 내과학교실) ;
  • 김신 (계명대학교 의과대학 면역학교실) ;
  • 박지혜 (계명대학교 의과대학 내과학교실) ;
  • 채진녕 (계명대학교 의과대학 내과학교실) ;
  • 최원일 (계명대학교 의과대학 내과학교실)
  • Received : 2008.05.29
  • Accepted : 2008.06.13
  • Published : 2008.06.30
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Abstract

A factor VII gene -401 G/A polymorphism was identified in a patient with a pulmonary embolism. The patient was a 71-year-old woman who presented with acute-onset dyspnea. A chest CT scan revealed a pulmonary embolism. Despite the administration of low-dose warfarin as anticoagulation therapy, there was an excessively prolonged prothrombin time (PT). The blood tests revealed lower factor VII activity than normal. Full factor VII gene sequencing revealed a G to A substitution at -401 in the promoter region. There were no other gene sequence anomalies. PCR-based analysis indicated lower factor VII gene expression in the patient than in a control subject. The data suggested the promoter polymorphism to be responsible for the lower transcription level. In conclusion, we encountered a case of Factor VII DNA polymorphism in a patient with a pulmonary embolism showing significantly reduced Factor VII activity.

저자들은 저자들은 폐색전증이 발생한 환자에서 기저질환을 조사하던 중 Factor VII 활성도 저하를 관찰하였고, 이 환자에게서 Factor VII 유전자의 프로모터 -401의 단염기 치환($G{\rightarrow}A$)을 발견하여 보고하며, 국내에도 Factor VII 유전자 다형성이 존재함을 밝히며, Factor VII 활성도 감소와 폐색전증이 동반된 환자를 보고하는 바이다.

Keywords

References

  1. Bauer KA. Activation of the factor VII-tissue factor pathway. Thromb Haemost 1997;78:108-11
  2. O'Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, et al. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci U S A 1987;84:5158-62 https://doi.org/10.1073/pnas.84.15.5158
  3. Hong Y, Pedersen NL, Egberg N, de Faire U. Genetic effects for plasma factor VII levels independent of and in common with triglycerides. Thromb Haemost 1999;81:382-6 https://doi.org/10.1055/s-0037-1614482
  4. Bernardi F, Marchetti G, Pinotti M, Arcieri P, Baroncini C, Papacchini M, et al. Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma. Arterioscler Thromb Vasc Biol 1996; 16:72-6
  5. Meade TW, Mellows S, Brozovic M, Miller GJ, Chakrabarti RR, North WR, et al. Haemostatic function and ischaemic heart disease: principal results of the Northwick Park Heart Study. Lancet 1986;2:533-7
  6. Heywood DM, Carter AM, Catto AJ, Bamford JM, Grant PJ. Polymorphisms of the factor VII gene and circulating FVII:C levels in relation to acute cerebrovascular disease and poststroke mortality. Stroke 1997;28:816-21 https://doi.org/10.1161/01.STR.28.4.816
  7. Tsai AW, Cushman M, Rosamond WD, Heckbert SR, Tracy RP, Aleksic N, et al. Coagulation factors, inflammation markers, and venous thromboembolism: the longitudinal investigation of thromboembolism etiology (LITE). Am J Med 2002;113:636-42 https://doi.org/10.1016/S0002-9343(02)01345-1
  8. Freedman MD. Oral anticoagulants: pharmacodynamics, clinical indications and adverse effects. J Clin Pharmacol 1992;32:196-209 https://doi.org/10.1002/j.1552-4604.1992.tb03827.x
  9. Palareti G, Legnani C. Warfarin withdrawal. Pharmacokinetic- pharmacodynamic considerations. Clin Pharmacokinet 1996;30:300-13 https://doi.org/10.2165/00003088-199630040-00003
  10. Carew JA, Pollak ES, High KA, Bauer KA. Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter. Blood 1998;92: 1639-45
  11. Marchetti G, Patracchini P, Papacchini M, Ferrati M, Bernardi F. A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide. Hum Genet 1993;90:575-6
  12. van 't Hooft FM, Silveira A, Tornvall P, Iliadou A, Ehrenborg E, Eriksson P, et al. Two common functional polymorphisms in the promoter region of the coagulation factor VII gene determining plasma factor VII activity and mass concentration. Blood 1999;93:3432-41
  13. McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. Factor VII deficiency and the FVII mutation database. Hum Mutat 2001;17:3-17 https://doi.org/10.1002/1098-1004(2001)17:1<3::AID-HUMU2>3.0.CO;2-V
  14. Taube J, Halsall D, Baglin T. Influence of cytochrome P-450 CYP2C9 polymorphisms on warfarin sensitivity and risk of over-anticoagulation in patients on long-term treatment. Blood 2000;96:1816-9
  15. Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005;352:2285-93 https://doi.org/10.1056/NEJMoa044503