Dissertation > Medicine, health > Internal Medicine > Respiratory system and chest diseases > Pulmonary disease > Pulmonary embolism

Probing into the Risk Profile of Pulmonary Thromboembolism in Chinese Population

Author LuYanHui
Tutor LiuGuoZhang;ZhaoYanFen;HuiRuTai
School Peking Union Medical College , China
Course Department of Cardiology
Keywords Pulmonary Thromboemboilsm Venous Thromboembolism Factor V Leiden Mutation Prothrombin Gene 20210G/A Substitution MTHFR Gene C677T Mutation CBS Gene 844ins68 Variant ATIII Gene Haplotype Analysis
CLC R563.5
Type PhD thesis
Year 2002
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Thrombophilia is a tendency to venous thromboembolism (VTE) that can be acquired or determined genetically. During the past decades, there has been increasing recognition of the importance of inherited abnormalities of coagulation as risk factors for VTE. These were confined to abnormalities resulting in either quantitative or qualitative changes in the coagulation inhibitors before 1993, including antithrombin III (ATIII), protein C and protein S. The proportion of patients with identifiable genetically determined abnormalities of coagulation predisposing to VTE rose dramatically with the discovery of activated protein C resisteance (APCR) and subsequently, its underlying defect, factor V Leiden mutation. In 1996, Poort et al identified a single G/A nucleotide transition at position 20210 in the 3’ untranslated region of the prothrombin gene. Possession of the 20210A allele was reported to be associated with an increased plasma prothrombin level and VTE. Hyperhomocysteinemia was demonstrated to be associated with an increased risk of VTE in patients who had suffered either recurrent or first episodes of VTE. Although it was shown that in about half of the patients the hyperhomocysteinemia was inherited, there still was no evidence of association between gene defects causing hyperhomocysteinemia and VTE. In addition, it is also unknown whether the association between hyperhomocysteinemia and other genetic risk factors for venous thrombosis increases the thrombotic risk.Almost all of the epidemiological evidence evaluating the association between genetic risk factors and VTE pertains to the white population. However, significant differences not only exist in the prevalence of risk factors for VTE among populations, but also in the risk profile of disease. There is a strong need to identify the risk factors for disease in ethnically derived populations rather than using political boundaries. The aim of the present case-control study was to probe into the risk profile of pulmonary thromboembolism (PTE) in Chinese population. The first step was to screen for the common genetic risk factors for VTE in Chinese population and to investigate whether there are associations

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