Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease

Aşkin Ateş, Nurşen Düzgün, Arzu Ulu, A. Olcay Aydintuǧ Tiryaki, Nejat Akar

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Objectives: Behçet's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. Methods: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. Results: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. Conclusions: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.

Original languageEnglish (US)
Pages (from-to)157-163
Number of pages7
JournalPathophysiology of Haemostasis and Thrombosis
Volume33
Issue number3
DOIs
StatePublished - 2003
Externally publishedYes

Fingerprint

Factor V
Prothrombin
Mutation
Venous Thrombosis
Genes
Thrombosis
Healthy Volunteers
Activated Protein C Resistance
Thrombophilia
Mutation Rate
Restriction Fragment Length Polymorphisms
Aneurysm
Blood Vessels
Endothelial Cells
Phenotype
Polymerase Chain Reaction

Keywords

  • Behçet's disease
  • Factor V gene 1691A mutation
  • Factor V gene 4070G mutation
  • Prothrombin gene 20210A mutation
  • Venous thrombosis

ASJC Scopus subject areas

  • Hematology

Cite this

Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease. / Ateş, Aşkin; Düzgün, Nurşen; Ulu, Arzu; Aydintuǧ Tiryaki, A. Olcay; Akar, Nejat.

In: Pathophysiology of Haemostasis and Thrombosis, Vol. 33, No. 3, 2003, p. 157-163.

Research output: Contribution to journalArticle

Ateş, Aşkin ; Düzgün, Nurşen ; Ulu, Arzu ; Aydintuǧ Tiryaki, A. Olcay ; Akar, Nejat. / Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease. In: Pathophysiology of Haemostasis and Thrombosis. 2003 ; Vol. 33, No. 3. pp. 157-163.
@article{7c56c2fc70d548d2a70d215116ba66ec,
title = "Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Beh{\cc}et's disease",
abstract = "Objectives: Beh{\cc}et's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. Methods: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. Results: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9{\%}) was significantly higher than that in healthy subjects (8.8{\%}; OR = 3.63; 95{\%} CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4{\%}), the difference did not reach a statistically significant level (OR = 2.73; 95{\%} CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. Conclusions: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.",
keywords = "Beh{\cc}et's disease, Factor V gene 1691A mutation, Factor V gene 4070G mutation, Prothrombin gene 20210A mutation, Venous thrombosis",
author = "Aşkin Ateş and Nurşen D{\"u}zg{\"u}n and Arzu Ulu and {Aydintuǧ Tiryaki}, {A. Olcay} and Nejat Akar",
year = "2003",
doi = "10.1159/000077824",
language = "English (US)",
volume = "33",
pages = "157--163",
journal = "Pathophysiology of Haemostasis and Thrombosis",
issn = "1424-8832",
publisher = "S. Karger AG",
number = "3",

}

TY - JOUR

T1 - Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease

AU - Ateş, Aşkin

AU - Düzgün, Nurşen

AU - Ulu, Arzu

AU - Aydintuǧ Tiryaki, A. Olcay

AU - Akar, Nejat

PY - 2003

Y1 - 2003

N2 - Objectives: Behçet's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. Methods: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. Results: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. Conclusions: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.

AB - Objectives: Behçet's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. Methods: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. Results: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. Conclusions: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.

KW - Behçet's disease

KW - Factor V gene 1691A mutation

KW - Factor V gene 4070G mutation

KW - Prothrombin gene 20210A mutation

KW - Venous thrombosis

UR - http://www.scopus.com/inward/record.url?scp=2542602296&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2542602296&partnerID=8YFLogxK

U2 - 10.1159/000077824

DO - 10.1159/000077824

M3 - Article

C2 - 15170396

AN - SCOPUS:2542602296

VL - 33

SP - 157

EP - 163

JO - Pathophysiology of Haemostasis and Thrombosis

JF - Pathophysiology of Haemostasis and Thrombosis

SN - 1424-8832

IS - 3

ER -