The frequency of factor V Leiden and concomitance of factor V Leiden with prothrombin G20210A mutation and methylene tetrahydrofolate reductase C677T gene mutation in healthy population of Denizli, Aegean Region of Turkey

Clinical and Applied Thrombosis/Hemostasis

Volumn 13, Issue 2, 2007, Pages 166-171

  Kabukcu, Sibel ^a   Keskin, Nazan ^a   Keskin, Ali ^a,b   Atalay, Erol ^a  

^a PAMUKKALE UNIVERSITY   (Turkey)

^b Faculty of Science ^*  (Turkey)

Author keywords

Frequency; FV Leiden; Turkey

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN;

ADULT; ARTICLE; FEMALE; FUNCTION TEST; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HERITABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYBRIDIZATION; MALE; NORMAL HUMAN; OLIGONUCLEOTIDE PROBE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; THROMBOPHILIA; TURKEY (REPUBLIC);

ADULT; AMINO ACIDS; FACTOR V; FEMALE; HEALTH; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; PROTHROMBIN; TURKEY;

EID: 34047267992     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/1076029606298990     Document Type: Article

References (35)

1. Bertina RM, Koeleman Rpc, Koster T., et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994 ; 369: 64.
2. Rosendaal FR, Koster T., Vandenbroucke JP, et al. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995 ; 85: 1504.
3. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994 ; 330: 517.
4. Salomon O., Steinberg DM, Zivelin A., et al. Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism. Prevalence and risk assessment. Arterioscler Thromb Vasc Biol 1999 ; 19: 511.
5. De Stefano V, Finazzi G., Mannucci PM Inherited thrombophilia: Pathogenesis, clinical syndromes, and management. Blood 1996 ; 87: 3531.
6. Zoller B., Hillarp A., Berntorp E., et al. Activated protein C resistance due to a common factor V gene mutation is a major risk factor for venous thrombosis. Annu Rev Med 1997 ; 48: 45.
7. Lucotte G., Mercier G. Population genetics of factor V Leiden in Europe. Blood Cells Mol Dis 2001 ; 27 (2). 362.
8. Herrmann FH, Koesling M., Schröder W., et al. Prevalence of factor V Leiden mutation in various populations. Genet Epidemiol 1997 ; 14: 403.
9. Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3' untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996 ; 88: 3698.
10. Frosst P., Blom HJ, Milos R., et al. A candidate genetic risk factor for vascular disease: A common mutation in methylene-tetrahydrofolate reductase. Nat Genet 1995 ; 10: 111.
11. Den Heijer M., Lewington S., Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: A metaanalysis of published epidemiological studies. J Thromb Haemost 2005 ; 3 (2). 292.
12. Altay C., Gürgey A. Distribution of hemoglobinopathies in Turkey. Turkish J Pediatr 1986 ; 28: 219.
13. Keskin A., Türk T., Polat A., et al. Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. Acta Haematol 2000 ; 104: 31.
14. Keskin N., Ozdecedillas I., Keskin A., et al. Incidence and molecular analysis of glucose-6-phospate dehydrogenase deficiency in the province of Denizli, Turkey. Med Sci Monit 2002 ; 8 (6). CR453.
15. Rees DC, Cox M., Clegg JB World distribution of factor V Leiden. Lancet 1995 ; 346: 1133.
16. Irani-Hakime N., Tamim H., Kreidy R., et al. The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese. Am J Hematol 2000 ; 65: 45.
17. Awidi A., Shannak M., Bseiso A., et al. High prevalence of factor V Leiden in healthy Jordanian Arabs. Thromb Hemost 1999 ; 81: 582.
18. Akar N., Akar E., Dalgin G., et al. Frequency of factor V 1691 G-A mutation in Turkish population. Thromb Haemost 1997 ; 78: 1527.
19. Fujimura H., Kambayashi J., Monden M., et al. Coagulation factor V Leiden mutation may have a racial background. Thromb Haemost 1996 ; 74: 1381.
20. Zivelin A., Griffin JH, Xu X., et al. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 1997 ; 89 (2). 397.
21. Kurt C., Tanriverdi K., Kocak R. The frequency of factor V Leiden in southern Turkey. Ann Med Sci 1999 ; 8: 56.
22. Ozbek U., Tangün Y. Frequency of Factor V Leiden in Turkey. Int J Haematol 1996 ; 64: 291.
23. Vurkun M., Vural Ö., Demir M., et al. The prevalence of activated protein C resistance and F V Leiden in healthy population of Edirne, Turkey. Turk J Haematol 2002 ; 19 (2). 287.
24. Quehenberger P., Handler S., Mannhalter C., et al. Evaluation of a highly specific functional test for the detection of factor V Leiden. Int J Clin Lab Res 2000 ; 30: 113.
25. Sayinalp N., Haznedaroglu IC, Aksu S., et al. The predictability of factor V Leiden (FV:Q[506]) gene mutation via clotting-based diagnosis of activated protein C resistance. Clin Appl Thromb Hemost 2004 ; 10 (3). 265.
26. Oger E., Leroyer C., Mercier B., et al. Assessment of activated protein C resistance using a new and rapid venom-based test: STA Staclot APC-R. Blood Coagul Fibrinolysis 1998 ; 9 (4). 355.
27. Zivelin A., Rosenberg N., Faier S., et al. A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood 1998 ; 92 (4). 1119.
28. Rees DC, Chapman NH, Webster MT, et al. Born to clot: The European burden. Br J Haematol 1999 ; 105 (2). 564.
29. Akar N., Misirlioglu M., Akar E., et al. Prothrombin gene 20210 G-A mutation in Turkish population. Am J Hematol 1998 ; 58: 249.
30. Ayyildiz O., Kalkanli S., Batun S., et al. Prothrombin G20210A gene mutation with lightcycler polymerase chain reaction in venous thrombosis and healthy population in the southeast of Turkey. Heart Vessels 2004 ; 19: 164.
31. Sazci A., Ergul E., Kaya G., et al. Genotype and allele frequencies of the polymorphic methylene tetrahydrofolate reductase gene in Turkey. Cell Biochem Funct 2004 ; 23 (1). 51.
32. den Heijer M. Hyperhomocysteinaemia as a risk factor for venous thrombosis: An update of the current evidence. Clin Chem Lab Med 2003 ; 41 (11). 1404.
33. Ray JG, Shmorgun D., Chan WS Common C677T polymorphism of the methylene tetrahydrofolate reductase gene and the risk of venous thromboembolism: Metaanalysis of 31 studies. Pathophysiol Haemost Thromb 2002 ; 32 (2). 51.
34. Frederiksen J., Juul K., Grande P., et al. Methylene-tetrahydrofolate reductase polymorphism (C677T), hyperhomocysteinemia, and risk of ischemic cardiovascular disease and venous thromboembolism: Prospective and case-control studies from the Copenhagen City Heart Study. Blood 2004 ; 104 (10). 3046.
35. Akar N., Yilmaz E., Akar E. Coexistence of two prothrombotic mutations, factor V 1691 G-A and prothrombin 20210 G-A, and the risk of thrombosis in the Turkish population. Turk J Haematol 2003 ; 20 (1). 31.