Abstract
The Marburg I polymorphism (G511E) in FSAP gene was listed as one of the risk factor for idiopathic DVT among the western population. The frequency of Marburg I polymorphism in India is presently not known. Fifty DVT cases and 50 healthy controls were tested for Marburg I polymorphism using ARMS-PCR technique. The thrombophilic risk factors (Protein C, Protein S, Antithrombin III, Factor V Leiden and antiphospholipid antibodies) were also determined. Marburg I polymorphism (heterozygous) was found in 2 patients (4%) but not in control subjects. These two cases did not have any other thrombophilia markers. Among the thrombophilic markers, heterozygous FVL mutation, PS, PC, AT deficiencies and antiphospholipid antibodies were seen in 10%, 10%, 6%, 6% and 8% of the patients respectively. The controls showed only the presence of antiphospholipid antibodies in 6% of subjects. Marburg I polymorphism among Indians DVT patients was determined for the first time. Its incidence was found in 4% of cases and not in controls. Although not statically significant this may be considered as one of the contributory risk factors for the development of DVT. A larger study is required for the validation of data.
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References
Oger E (2000) Incidence of venous thromboembolism: a community-based study in Western France. EPI-GETBP Study Group. Groupe d’Etude de la Thrombose de Bretagne Occidentale. Thromb Haemost 83:657–660
Pai N, Shetty S, Kulkarni B, Ghosh K (2010) Differences in etiological and clinical manifestations in upper extremity and lower limb deep venous thrombosis patients from India. Clin Appl Thromb Hemost 16:698–700
Ghosh K, Shetty S, Madkaikar M, Pawar A, Nair S, Khare A et al (2001) Venous thromboembolism in young patients from western India: a study. Clin Appl Thromb Hemost 7:158–165
Hoppe B, Tolou F, Radtke H, Kiesewetter H, Dörner T, Salama A (2005) Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. Blood 105:1549–1551
Ahmad-Nejad P, Dempfle CE, Weiss C, Bugert P, Borggrefe M, Neumaier M (2012) The G534E-polymorphism of the gene encoding the factor VII-activating protease is a risk factor for venous thrombosis and recurrent events. Thromb Res 130:441–444
van Minkelen R, de Visser MC, Vos HL, Bertina RM, Rosendaal FR (2005) The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis. Blood 105:4898
Gulesserian T, Hron G, Endler G, Eichinger S, Wagner O, Kyrle PA (2006) Marburg I polymorphism of factor VII-activating protease and risk of recurrent venous thromboembolism. Thromb Haemost 95:65–67
Römisch J, Feussner A, Vermöhlen S, Stöhr HA (1999) A protease isolated from human plasma activating factor VII independent of tissue factor. Blood Coagul Fibrinolysis 10:471–479
Roemisch J, Feussner A, Nerlich C, Stoehr HA, Weimer T (2002) The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP). Blood Coagul Fibrinolysis 13:433–441
Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH (1995) High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85:1504–1508
De Stefano V, Chiusolo P, Paciaroni K, Leone G (1998) Epidemiology of factor V Leiden: clinical implications. Semin Thromb Hemost 24:367–379
Garewal G, Das R, Varma S, Chawla Y, Prabhakar S (2003) Heterogeneous distribution of factor V Leiden in patients from north India with venous thromboembolism. J Thromb Haemost 1:1329–1330
Chougule A, Rajpal S, Ahluwalia J, Bose SK, Masih J, Das R et al (2016) Coagulation factor VIII, IX and XI levels in north Indian patients with venous thromboembolism: first study from India. Blood Coagul Fibrinolysis 27:58–63
Vora S, Ghosh K, Shetty S, Salvi V, Satoskar P (2007) Deep venous thrombosis in the antenatal period in a large cohort of pregnancies from western India. Thromb J 5:9
Ahluwalia J, Sreedharanunni S, Kumar N, Masih J, Bose SK, Varma N et al (2016) Thrombotic Primary Antiphospholipid Syndrome: the profile of antibody positivity in patients from North India. Int J Rheum Dis 19(9):903–912
Acknowledgements
The authors would like to thank Mr S. K. Bose and Mr. Varun Uppal for helping in laboratory-based thrombophilia testing.
Funding
The author(s) received financial support for this research from Department of Science and Technology-Union territory (DST-UT) Chandigarh, India (Letter No. S&T/Sanc/06/2014/456-461 dated 5.6.14). Dr. Archana Sundaram had received financial support for this as a thesis grant (Special Research Grant) from Medical Education and Research Cell, PGIMER Chandigarh (2014–16).
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Kumar, N., Sundaram, A., Rani, N. et al. Marburg I Polymorphism (G511E) in Adults with Deep Vein Thrombosis. Indian J Hematol Blood Transfus 36, 183–186 (2020). https://doi.org/10.1007/s12288-019-01146-1
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DOI: https://doi.org/10.1007/s12288-019-01146-1