Protective effect of a thrombin receptor (protease-activated receptor 1) gene polymorphism toward venous thromboembolism
| Autor: | Jean-Noël Fiessinger, Joseph Emmerich, Martine Aiach, Viviane Nicaud, Emmanuel Arnaud, Francine Rendu, Martine Alhenc-Gelas, Odette Poirier |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male medicine.medical_specialty Molecular Sequence Data Biology Exon Thrombin Gene Frequency Reference Values Internal medicine Thromboembolism Thrombin receptor medicine Humans Receptor PAR-1 Transversion Receptor Promoter Regions Genetic Venous Thrombosis Sex Characteristics Polymorphism Genetic Transition (genetics) Base Sequence Exons Middle Aged Blood Physiological Phenomena Introns Protease-Activated Receptor 1 Endocrinology Phenotype Case-Control Studies Female Receptors Thrombin Gene polymorphism Cardiology and Cardiovascular Medicine medicine.drug |
| Zdroj: | Arteriosclerosis, thrombosis, and vascular biology. 20(2) |
| ISSN: | 1079-5642 |
| Popis: | Abstract —The human protease-activated receptor 1 (PAR-1) is activated by thrombin at the surface of platelets and endothelial cells, 2 cells that are implicated in hemostasis and thrombosis. We studied the PAR-1 gene in a large case-control study from the Paris Thrombosis Study (PATHROS), and the possible implication of polymorphisms in venous thromboembolism was evaluated. Two polymorphisms were found in the 5′ regulatory region. The first is a C to T transition that is 1426 nucleotides upstream from the translation start site (−1426 C/T), and the second is a 13-bp insertion repeating the preceding −506 5′-CGGCCGCGGGAAG-3′ sequence (−506 I/D, where I indicates insertion and D indicates deletion), a putative cis -acting element of the Ets family. The third polymorphism is an A to T transversion in the intervening sequence (IVS) that is 14 nucleotides upstream from the exon 2 start site (IVS-14 A/T). The distribution of the 3 polymorphisms was otherwise similar in the 250 cases and the 1214 controls. A noteworthy sex heterogeneity led us to analyze men and women separately with regard to the −506 I/D polymorphism. We found that allele I was less frequent in male cases than in male controls (0.154 versus 0.247, P P P =0.04). Altogether, these data suggested a protective effect in men of −506 I/D polymorphism for venous thromboembolism. |
| Databáze: | OpenAIRE |
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