Venous thromboembolism: implications for gene-based diagnosis and technology development.
Venous thromboembolism is an hypercoagulable state that frequently reflects a complex interplay between inherited, acquired and environmental factors. The overall incidence of venous thromboembolism, which increases with age, is approximately 1:1000 in the US and Western Europe. In addition to known risk factors such as pregnancy and cancer, genetic variants can also increase the venous thromboembolism risk. Once such genetic variant, FV Leiden is characterized by single-point mutation and has been found in approximately 20% of idiopathic venous thromboembolism cases. The discovery of FV Leiden unleashed an increased interest in the genetics of venous thromboembolism as well as other cardiovascular diseases. Because FV Leiden was not only defined by only one common single nucleotide polymorphism but was also widely prevalent, impetus for the development of novel mutation detection methodologies and platforms for DNA analysis in both the clinical and research laboratory was greatly accelerated. An overview of this technology and its relationship to the genetics of venous thromboembolism is reviewed.
Hooper
W Craig
WC
Hematologic Disease Branch, Division of AIDS, STD and TB Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, US Department of Health and Human Services, Atlanta, GA 30333, USA. chooper@cdc.gov
De Staercke
Christine
C
D020016:Activated Protein C Resistance / Q000235:genetics; D001798:Blood Proteins / Q000235:genetics; D004198:Disease Susceptibility; D004843:Epistasis, Genetic; D005165:Factor V / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D005544:Forecasting; D020022:Genetic Predisposition to Disease; D006801:Humans; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000235:genetics; D008297:Male; D025202:Molecular Diagnostic Techniques; D009369:Neoplasms / Q000097:blood; D010980:Platelet Membrane Glycoproteins / Q000235:genetics; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011516:Prothrombin / Q000235:genetics; D013923:Thromboembolism / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
D001798:Blood Proteins; D010980:Platelet Membrane Glycoproteins; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005340:Fibrinogen