BibTex RIS Kaynak Göster

A Genetical approach to deep venous thrombosis

Yıl 2012, , 303 - 306, 01.06.2012
https://doi.org/10.5799/ahinjs.01.2012.02.0168

Öz

Deep venous thrombosis (DVT) is a common disorder that frequently occurs after surgical procedures and trauma and in the presence of cancer or immobilization conditions. However, it can also develop without any of these predisposing factors. This condition directs the researcher's enquiry to investigating the basis of organismal thrombotic predisposition. The common prothrombotic genetic mutations include factor V Leiden, factor II G20210 A, plasminogen activator inhibitor-1, prothrombin A20210, and factor XIII - VIII. Nevertheless, current studies suggest that the thrombotic events are not connected with single gene deletion or homeostatic regulation is also affected by other genetic risk factors. Complex interactions of genetic mutations can be affects different levels of thrombotic system or reinforce each other's effects on homeostatic mechanisms. The analysis of literature, together with the action mechanisms of the classic genetical factors and new suggestions, may contribute significantly to our understanding of the genetic predisposition to venous thrombosis. J Clin Exp Invest 2012; 3(2): 303-306

Kaynakça

  • Blom JW, Doggen CJM, Osanto S, Rosendaal FR. Old and new risk factors for upper extremity deep venous thrombosis. J Thromb Haemost. 2005; 3(11):2471-8.
  • López JA, Kearon C, Lee AYY. Deep Venous Throm- bosis Hematology Am Soc Hematol Educ Program. 2004:439-56.
  • Yucel O, Karahan O, Zorlu A, Manduz S. Familial ge- netic risk factors in premature cardiovascular disease: a family study. Mol Biol Rep 2012;39(5):6141-7.
  • Arslan S, Manduz S, Epöztürk K, Karahan O, Akkurt I. Association of deep venous thrombosis with pro- thrombotic gene polymorphism identified in lung can- cer cases. Mol Biol Rep 2011;38(4):2395-400.
  • Dahlbäck B, Carlsson M, Svensson PJ. Familial throm- bophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to acti- vated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90 (3):1004- 8.
  • Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369(6475): 64-7.
  • Maessen-Visch MB, Hamulyak K, Tazelaar DJ, Crom- bag NH, Neumann HA. The prevalence of factor V Leiden mutation in patients with leg ulcers and venous insufficiency. Arch Dermatol 1999; 135(1):41-4.
  • Curigliano G, Mandalà M, Sbanotto A. et al. Factor V Leiden mutation in patients with breast cancer with a central venous catheter: risk of deep vein thrombosis. Support Cancer Ther 2006; 3(2):98-102.
  • Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’-untranslated re- gion of the prothrombin gene is associated with el- evated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88(10):3698-703.
  • Altıntaş A, Çil T, Kaplan MA, Yurt M, Batun S. He- reditary thrombophilic risk factors in patients with deep venous thrombosis. Int J Hematol Oncol 2007; 2 (17);65-9.
  • Attia FM, Mikhailidis DP, Reffat SA. Prothrombin gene g20210a mutation in acute deep venous thrombosis patients with poor response to warfarin therapy. Open Cardiovasc Med J 2009;3:147-51.
  • Renner W, Koppel H, Hoffmann C, et al. Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria. Thromb Res 2000 ;99(1):35-9.
  • Renner W, Cichocki L, Forjanics A, Köppel H, Gasser R, Pilger E. G-455A polymorphism of the fibrinogen beta gene and deep vein thrombosis. Eur J Clin Invest 2002; 32(10):755-8.
  • Rasmussen-Torvik LJ, Cushman M, Tsai MY. et al. The association of alpha-fibrinogen Thr312Ala poly- morphism and venous thromboembolism in the LITE study. Thromb Res 2007;121(1):1-7.
  • Akar N, Yilmaz E, Akar E, Avcu F, Yalçin A, Cin S. Ef- fect of plasminogen activator inhibitor-1 4G/5G poly- morphism in Turkish deep vein thrombotic patients with and without FV1691 G-A. Thromb Res 2000 ;97(4):227-30.
  • Katrancıoğlu N, Karahan O, Küçükkurtulgan H, Sanrı US, Kılıç AT. PAI-1 4G/4G gene polymorphism is as- sociated with higher serum lipid level in Turkish popu- lation. Cumhuriyet Tıp Derg 2011;33(3):307-11.
  • Kawasaki T, Fujimura H, Kakinoki E, Uemichi A, Mi- yata T. Is there a role for genetic polymorphism of C677T methylenetetrahydrofolate reductase (MTH- FR) in Buerger’s disease? Thromb Haemost 2000; 84(4):736-7.
  • Zheng YZ, Tong J, Do XP, Pu XQ, Zhou BT. Preva- lence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombo- sis in the Chinese population. Br J Haematol 2000; 109(4):870-4.
  • Spiroski I, Kedev S, Antov S et al. Methylenetetrahy- drofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis. Acta Biochim Pol 2008; 55(3):587-94.
  • Akar N, Akar E, Akçay R, Avcu F, Yalcin A, Cin S. Ef- fect of methylenetetrahydrofolate reductase 677 C-T, 1298 A-C, and 1317 T-C on factor V 1691 mutation in Turkish deep vein thrombosis patients. Thromb Res 2000; 97(3):163-7.
  • Hooper WC, Dowling NF, Wenger NK, Dilley A, El- lingsen D, Evatt BL. Relationship of venous thrombo- embolism and myocardial infarction with the renin-an- giotensin system in African-Americans. Am J Hematol 2002; 70(1):1-8.
  • Labinjoh C, Newby DE, Dawson P, et al. Fibrinolytic actions of intra-arterial angiotensin II and bradykinin in vivo in man. Cardiovasc Res 2000; 47(4):707-14.
  • Nikzamir A, Nakhjavani M, Golmohammadi T, Dibai L, Safari R. polymorphism in the angiotensin-converting enzyme (ace) gene and ace activity in type diabetic patients. Acta Medica Iranica 2008; 46(4):277-82.
  • Dilley A, Austin H, Hooper WC, et al. Relation of three genetic traits to venous thrombosis in an African-Amer- ican population. Am J Epidemiol 1998;147(1):30-5.

A Genetical approach to deep venous thrombosis

Yıl 2012, , 303 - 306, 01.06.2012
https://doi.org/10.5799/ahinjs.01.2012.02.0168

Öz

Derin ven trombozu (DVT) sıklıkla cerrahi girişimler ve travma sonrası ve kanser veya immobilizasyon koşullarının varlığında oluşur yaygın bir hastalıktır. Ancak aynı zamanda bu predispozan faktörlerin herhangi biri olmaksızın da gelişebilir. Bu durum araştırmacıları, organizmada ki trombotik yatkınlığın temelini soruşturmaya yönlendirmektedir. Faktör V Leiden, Faktör II G20210 A, plazminojen aktivatör inhibitörü-1, protrombin A20210 ve faktör XIII-VIII yaygın protrombotik genetik mutasyonlarıdır. Bununla birlikte, mevcut çalışmalar trombotik olayların sadece tek gen delesyonu veya hemstatik regülasyona bağlı olmadığını, diğer genetik risk faktörlerinden de etkilendiğini göstermektedir. Genetik mutasyonlarınn karmaşık etkileşimleri, trombotik sisteminin farklı düzeylerde etkiler veya hemostatik mekanizmaların birbirlerinin etkisini arttırabilir. Literatür analiziyle, klasik genetik faktörlerin ve yeni buluşların etki mekanizmalarının birlikte ele alınması, venöz trombozda genetik yatkınlık anlayışımıza önemli katkıda bulunabilir.

Kaynakça

  • Blom JW, Doggen CJM, Osanto S, Rosendaal FR. Old and new risk factors for upper extremity deep venous thrombosis. J Thromb Haemost. 2005; 3(11):2471-8.
  • López JA, Kearon C, Lee AYY. Deep Venous Throm- bosis Hematology Am Soc Hematol Educ Program. 2004:439-56.
  • Yucel O, Karahan O, Zorlu A, Manduz S. Familial ge- netic risk factors in premature cardiovascular disease: a family study. Mol Biol Rep 2012;39(5):6141-7.
  • Arslan S, Manduz S, Epöztürk K, Karahan O, Akkurt I. Association of deep venous thrombosis with pro- thrombotic gene polymorphism identified in lung can- cer cases. Mol Biol Rep 2011;38(4):2395-400.
  • Dahlbäck B, Carlsson M, Svensson PJ. Familial throm- bophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to acti- vated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90 (3):1004- 8.
  • Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369(6475): 64-7.
  • Maessen-Visch MB, Hamulyak K, Tazelaar DJ, Crom- bag NH, Neumann HA. The prevalence of factor V Leiden mutation in patients with leg ulcers and venous insufficiency. Arch Dermatol 1999; 135(1):41-4.
  • Curigliano G, Mandalà M, Sbanotto A. et al. Factor V Leiden mutation in patients with breast cancer with a central venous catheter: risk of deep vein thrombosis. Support Cancer Ther 2006; 3(2):98-102.
  • Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’-untranslated re- gion of the prothrombin gene is associated with el- evated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88(10):3698-703.
  • Altıntaş A, Çil T, Kaplan MA, Yurt M, Batun S. He- reditary thrombophilic risk factors in patients with deep venous thrombosis. Int J Hematol Oncol 2007; 2 (17);65-9.
  • Attia FM, Mikhailidis DP, Reffat SA. Prothrombin gene g20210a mutation in acute deep venous thrombosis patients with poor response to warfarin therapy. Open Cardiovasc Med J 2009;3:147-51.
  • Renner W, Koppel H, Hoffmann C, et al. Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria. Thromb Res 2000 ;99(1):35-9.
  • Renner W, Cichocki L, Forjanics A, Köppel H, Gasser R, Pilger E. G-455A polymorphism of the fibrinogen beta gene and deep vein thrombosis. Eur J Clin Invest 2002; 32(10):755-8.
  • Rasmussen-Torvik LJ, Cushman M, Tsai MY. et al. The association of alpha-fibrinogen Thr312Ala poly- morphism and venous thromboembolism in the LITE study. Thromb Res 2007;121(1):1-7.
  • Akar N, Yilmaz E, Akar E, Avcu F, Yalçin A, Cin S. Ef- fect of plasminogen activator inhibitor-1 4G/5G poly- morphism in Turkish deep vein thrombotic patients with and without FV1691 G-A. Thromb Res 2000 ;97(4):227-30.
  • Katrancıoğlu N, Karahan O, Küçükkurtulgan H, Sanrı US, Kılıç AT. PAI-1 4G/4G gene polymorphism is as- sociated with higher serum lipid level in Turkish popu- lation. Cumhuriyet Tıp Derg 2011;33(3):307-11.
  • Kawasaki T, Fujimura H, Kakinoki E, Uemichi A, Mi- yata T. Is there a role for genetic polymorphism of C677T methylenetetrahydrofolate reductase (MTH- FR) in Buerger’s disease? Thromb Haemost 2000; 84(4):736-7.
  • Zheng YZ, Tong J, Do XP, Pu XQ, Zhou BT. Preva- lence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombo- sis in the Chinese population. Br J Haematol 2000; 109(4):870-4.
  • Spiroski I, Kedev S, Antov S et al. Methylenetetrahy- drofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis. Acta Biochim Pol 2008; 55(3):587-94.
  • Akar N, Akar E, Akçay R, Avcu F, Yalcin A, Cin S. Ef- fect of methylenetetrahydrofolate reductase 677 C-T, 1298 A-C, and 1317 T-C on factor V 1691 mutation in Turkish deep vein thrombosis patients. Thromb Res 2000; 97(3):163-7.
  • Hooper WC, Dowling NF, Wenger NK, Dilley A, El- lingsen D, Evatt BL. Relationship of venous thrombo- embolism and myocardial infarction with the renin-an- giotensin system in African-Americans. Am J Hematol 2002; 70(1):1-8.
  • Labinjoh C, Newby DE, Dawson P, et al. Fibrinolytic actions of intra-arterial angiotensin II and bradykinin in vivo in man. Cardiovasc Res 2000; 47(4):707-14.
  • Nikzamir A, Nakhjavani M, Golmohammadi T, Dibai L, Safari R. polymorphism in the angiotensin-converting enzyme (ace) gene and ace activity in type diabetic patients. Acta Medica Iranica 2008; 46(4):277-82.
  • Dilley A, Austin H, Hooper WC, et al. Relation of three genetic traits to venous thrombosis in an African-Amer- ican population. Am J Epidemiol 1998;147(1):30-5.
Toplam 24 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Derleme
Yazarlar

Celal Yavuz Bu kişi benim

Yayımlanma Tarihi 1 Haziran 2012
Yayımlandığı Sayı Yıl 2012

Kaynak Göster

APA Yavuz, C. (2012). A Genetical approach to deep venous thrombosis. Journal of Clinical and Experimental Investigations, 3(2), 303-306. https://doi.org/10.5799/ahinjs.01.2012.02.0168
AMA Yavuz C. A Genetical approach to deep venous thrombosis. J Clin Exp Invest. Haziran 2012;3(2):303-306. doi:10.5799/ahinjs.01.2012.02.0168
Chicago Yavuz, Celal. “A Genetical Approach to Deep Venous Thrombosis”. Journal of Clinical and Experimental Investigations 3, sy. 2 (Haziran 2012): 303-6. https://doi.org/10.5799/ahinjs.01.2012.02.0168.
EndNote Yavuz C (01 Haziran 2012) A Genetical approach to deep venous thrombosis. Journal of Clinical and Experimental Investigations 3 2 303–306.
IEEE C. Yavuz, “A Genetical approach to deep venous thrombosis”, J Clin Exp Invest, c. 3, sy. 2, ss. 303–306, 2012, doi: 10.5799/ahinjs.01.2012.02.0168.
ISNAD Yavuz, Celal. “A Genetical Approach to Deep Venous Thrombosis”. Journal of Clinical and Experimental Investigations 3/2 (Haziran 2012), 303-306. https://doi.org/10.5799/ahinjs.01.2012.02.0168.
JAMA Yavuz C. A Genetical approach to deep venous thrombosis. J Clin Exp Invest. 2012;3:303–306.
MLA Yavuz, Celal. “A Genetical Approach to Deep Venous Thrombosis”. Journal of Clinical and Experimental Investigations, c. 3, sy. 2, 2012, ss. 303-6, doi:10.5799/ahinjs.01.2012.02.0168.
Vancouver Yavuz C. A Genetical approach to deep venous thrombosis. J Clin Exp Invest. 2012;3(2):303-6.