Το σύστημα της πρωτεΐνης C και η γενετική της θρομβοφιλίας

Doctoral Dissertation uoadl:1308350 232 Read counter

Unit:
Τομέας Κλινικοεργαστηριακός
Library of the School of Health Sciences
Deposit date:
2014-04-14
Year:
2014
Author:
Αναστασίου Γεωργία
Dissertation committee:
Ωρεάνθη Σ. Τραυλού
Original Title:
Το σύστημα της πρωτεΐνης C και η γενετική της θρομβοφιλίας
Languages:
Greek
Summary:
The protein C pathway plays an important role in the regulating of coagulation.
The normal blood flow depends on the precise binding on the surface of
endothelial cells of thrombin (T), thrombomodulin (TM), protein C (PC) and
(endothelial receptor protein C) EPCR. Genetic abnormalities affecting the gene
of thrombomodulin and th endothelial protein C receptor may be associated with
disturbances in the protein C pathway and therefore associated with an
increased risk for thrombotic events.
The purpose of this study was to investigate the appearance of 127G/A and
1456G/T mutations in the TM gene and the polymorphisms, 4600A/G and 4678G/C in
the EPCR gene in patients with thrombosis as well as their impact on the risk
of VTE, on the age of the first thrombotic episode and recurrence. We recruited
84 patients, as well as a control group of 100 healthy individuals. Real-time
polymerase chain reaction was used for the identification of 127G/A and 1456G/T
mutations in the TM gene and the 4600A/G and 4678G/C polymorphisms in EPCR
gene. Patients were also studied for hereditary thrombophilia and deficiency of
natural inhibitors of coagulation.The FV Leiden and FII G20210A mutations were
assessed by reverse hybridization t. Automated hemostasis analyzer BCS System
was used to determine the activity of natural inhibitors of coagulation.
In our study, it appears that 127G/A and 1456G/T mutations is not a common risk
factor of VTE in the Greek population. As far as, EPCR polymorphisms is
regarded, frequency of the EPCR 4600A/G and 4678G/C genotype was comparable in
patients and controls. However, in a subset analysis we observed that the EPCR
4600A/G genotype was more prevalent in patients who developed VTE earlier
(<35). Moreover, the EPCR 4678C/C genotype confers a protective advantage for
VTE in terms of age of first thrombotic manifestation.
Keywords:
Venous thrombosis, Thrombophilia, Thrombomodulin, Endothelial protein C receptor, Molecular diagnostic
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
191
Number of pages:
185
File:
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