A new T-287C polymorphism in the 5' regulatory region of the tissue factor pathway inhibitor gene. Association study of the T-287C and C-399T polymorphisms with coronary artery disease and plasma TFPI levels
| Autor: | Frédéric Fumeron, Patrick Seknadji, Laurent Gauci, Olivier Boudvillain, Bassam Haidar, Véronique Ollivier, Didier Moatti, Dominique de Prost, Marie Claude Aumont |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Male medicine.medical_specialty Genotype Lipoproteins Matched-Pair Analysis DNA Mutational Analysis Restriction Mapping Myocardial Infarction Coronary Disease Polymerase Chain Reaction White People Pathogenesis Tissue factor Tissue factor pathway inhibitor Gene Frequency Internal medicine Gene expression medicine Humans Point Mutation Angina Unstable Allele Allele frequency Alleles Genetics Polymorphism Genetic business.industry Anticoagulants Promoter Hematology Middle Aged Peptide Fragments Endocrinology Female Prothrombin business 5' Untranslated Regions |
| Zdroj: | Thrombosis and haemostasis. 84(2) |
| ISSN: | 0340-6245 |
| Popis: | SummaryTissue factor pathway inhibitor (TFPI) is an important regulator of the extrinsic blood coagulation pathway. We screened the untranslated 5’ region of the TFPI gene for polymorphisms and investigated their possible involvement in arterial thrombosis. The allele frequencies of a new polymorphism, located 287 base pairs upstream of the transcription start site (T-287C), and that of the previously described C-399T polymorphism, were similar in cases and controls. In controls, the -287C allele was associated with significantly higher levels of total TFPI antigen, arguing for an effect of this polymorphism on TFPI gene expression. In controls, the C-399T polymorphism did not alter TFPI levels. In the cases, however, decreased total and post-heparin free TFPI levels and increased F1+2 levels were significantly associated with the -399T allele. These findings suggest that the T-287C and C-399T polymorphisms are not associated with an increased risk of coronary heart disease, a result which should be confirmed by a larger study. However, their influence on outcome, or a link with subtypes of acute coronary syndromes, cannot be excluded. |
| Databáze: | OpenAIRE |
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