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Published in: Journal of Thrombosis and Thrombolysis 3/2012

01-10-2012

The frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma (Gypsy) ethnic group of Eastern Slovakia

Authors: Alexandra Bôžiková, Dana Gabriková, Adriana Sovičová, Regina Behulová, Soňa Mačeková, Iveta Boroňová, Eva Petrejčíková, Miroslav Soták, Jarmila Bernasovská, Ivan Bernasovský

Published in: Journal of Thrombosis and Thrombolysis | Issue 3/2012

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Abstract

Factor V Leiden and prothrombin G20210A are the two most prevalent causes of inherited thrombophilia. The prevalence of these mutations varies widely in healthy Caucasian population. The aim of our study was to determine the frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma ethnic group from Eastern Slovakia. We analyzed 540 asymptomatic individuals (269 individuals of Slovak ethnicity and 271 individuals of Roma ethnicity) by real-time PCR method. The detected allele frequencies were 2.97 versus 6.64 % for factor V Leiden (p = 0.0049), and 0.74 versus 0.92 % for prothrombin mutation (p = 0.7463) in Slovak and Roma population, respectively. The Roma ethnic group had significantly higher prevalence of factor V Leiden mutation when compared to Slovak ethnic group. The allele frequency of factor V Leiden in ethnic Romanies from Eastern Slovakia was one of the highest in Europe. Our results confirm an uneven geographical and ethnic distribution of factor V Leiden.
Literature
1.
go back to reference Rosendaal FR (1997) Thrombosis in the young: epidemiology and risk factors: a focus on venous thrombosis. Thromb Haemost 78(1):1–6PubMed Rosendaal FR (1997) Thrombosis in the young: epidemiology and risk factors: a focus on venous thrombosis. Thromb Haemost 78(1):1–6PubMed
2.
3.
go back to reference Zivelin A, Griffin JH, Xu X et al (1997) A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 89:397–402PubMed Zivelin A, Griffin JH, Xu X et al (1997) A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 89:397–402PubMed
4.
7.
go back to reference Rosendaal FR (1999) Risk factors for venous thrombotic disease. Thromb Haemost 82:610–619PubMed Rosendaal FR (1999) Risk factors for venous thrombotic disease. Thromb Haemost 82:610–619PubMed
8.
go back to reference Rosendaal FR, Koster T, Vanderbroucke JP et al (1995) High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85:1504–1508PubMed Rosendaal FR, Koster T, Vanderbroucke JP et al (1995) High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85:1504–1508PubMed
9.
go back to reference Plameňová I, Bartošová L, Chudej J et al (2011) National registry of thrombophilic states in Slovak republic (article in slovak). Vask Med 3(2):I–V, electronic supplement Plameňová I, Bartošová L, Chudej J et al (2011) National registry of thrombophilic states in Slovak republic (article in slovak). Vask Med 3(2):I–V, electronic supplement
10.
go back to reference Poort SR, Rosendaal FR, Reitsma PH et al (1996) 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 88:3698–3703PubMed Poort SR, Rosendaal FR, Reitsma PH et al (1996) 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 88:3698–3703PubMed
11.
go back to reference Rosendaal FR, Doggen C, Zivelin A et al (1998) Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 79:706–708PubMed Rosendaal FR, Doggen C, Zivelin A et al (1998) Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 79:706–708PubMed
12.
go back to reference Zivelin A, Rosenberg N, Faier S et al (1998) A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood 92:1119–1124PubMed Zivelin A, Rosenberg N, Faier S et al (1998) A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood 92:1119–1124PubMed
13.
go back to reference Liegeois J-P (1994) Roma, Gypsies, Travellers. Council of Europe Press, Strasbourg Liegeois J-P (1994) Roma, Gypsies, Travellers. Council of Europe Press, Strasbourg
14.
go back to reference Marushiakova E, Popov V (2001) Historical and ethnographic background. Gypsies, Roma, Sinti. In: Guy W(ed) Between past and future: the Roma of Central and Eastern Europe. University of Hertfordshire Press, Hatfield, pp 33–53 Marushiakova E, Popov V (2001) Historical and ethnographic background. Gypsies, Roma, Sinti. In: Guy W(ed) Between past and future: the Roma of Central and Eastern Europe. University of Hertfordshire Press, Hatfield, pp 33–53
15.
go back to reference Ferák V, Siváková D, Sieglová Z (1987) The slovak gypsies (Romany): population with the highest coeficient of inbreeding in Europe (article in slovak). Bratisl Lek Listy 87:168–175PubMed Ferák V, Siváková D, Sieglová Z (1987) The slovak gypsies (Romany): population with the highest coeficient of inbreeding in Europe (article in slovak). Bratisl Lek Listy 87:168–175PubMed
16.
go back to reference Bernasovský I, Bernasovská J (1999) Antropology of Romanies. Auxological and Anthropogenetical study. Nauma, Brno Bernasovský I, Bernasovská J (1999) Antropology of Romanies. Auxological and Anthropogenetical study. Nauma, Brno
18.
go back to reference Ginter E, Havelková B, Kudláčková M et al (2004) Differences in health status of different regions of Slovakia. Roma population (article in slovak). Med Monitor 6:14–16 Ginter E, Havelková B, Kudláčková M et al (2004) Differences in health status of different regions of Slovakia. Roma population (article in slovak). Med Monitor 6:14–16
19.
go back to reference Paseka J, Unzeitig V, Cibula D et al (2000) The factor V Leiden mutation in users of hormonal contraceptives. Ceska Gynekol 65:156–159PubMed Paseka J, Unzeitig V, Cibula D et al (2000) The factor V Leiden mutation in users of hormonal contraceptives. Ceska Gynekol 65:156–159PubMed
20.
go back to reference Sucker C, Kurschat C, Hetzel GR et al (2009) The G1691A mutation of the factor V gene (Factor V Leiden) and the G20210A mutation of the prothrombin gene as risk factors in thrombotic microangiopathies. Clin Appl Thromb Hemost 15:360–363. doi:10.1177/1076029607311778 PubMedCrossRef Sucker C, Kurschat C, Hetzel GR et al (2009) The G1691A mutation of the factor V gene (Factor V Leiden) and the G20210A mutation of the prothrombin gene as risk factors in thrombotic microangiopathies. Clin Appl Thromb Hemost 15:360–363. doi:10.​1177/​1076029607311778​ PubMedCrossRef
22.
go back to reference Lopaciuk S, Bykowska K, Kwiecinski H et al (2001) Factor V Leiden, prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase C677T genotype in young adults with ischemic stroke. Clin Appl Thromb Hemost 7(4):346–350PubMedCrossRef Lopaciuk S, Bykowska K, Kwiecinski H et al (2001) Factor V Leiden, prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase C677T genotype in young adults with ischemic stroke. Clin Appl Thromb Hemost 7(4):346–350PubMedCrossRef
23.
go back to reference Kubisz P, Staško J, Pullmann R (2002) Epidemiology of inherited thrombophilia in Slovak population. Int J Hematol Suppl 76(1):122 Kubisz P, Staško J, Pullmann R (2002) Epidemiology of inherited thrombophilia in Slovak population. Int J Hematol Suppl 76(1):122
25.
go back to reference Chudej J, Plameňová I, Hollý P et al (2011) Prevalence of prothrombin mutation gene (G-A 20210) in thrombophilic patients and in healthy population (article in slovak). Lek Obz 60(4):155–161 Chudej J, Plameňová I, Hollý P et al (2011) Prevalence of prothrombin mutation gene (G-A 20210) in thrombophilic patients and in healthy population (article in slovak). Lek Obz 60(4):155–161
26.
go back to reference Balogh I, Póka R, Losonczy G et al (1999) High frequency of factor V Leiden mutation and prothrombin 20210A variant in Romanies of Eastern Hungary. Thromb Haemost 82(5):1555–1556PubMed Balogh I, Póka R, Losonczy G et al (1999) High frequency of factor V Leiden mutation and prothrombin 20210A variant in Romanies of Eastern Hungary. Thromb Haemost 82(5):1555–1556PubMed
28.
go back to reference Garewal G, Das R, Trehan U (1997) Factor V prevalence in the indigenous population and cases of thrombosis in North India. Br J Haematol 97(4):940PubMed Garewal G, Das R, Trehan U (1997) Factor V prevalence in the indigenous population and cases of thrombosis in North India. Br J Haematol 97(4):940PubMed
29.
go back to reference Pawar AR, Ghosh K, Shetty S et al (2000) High frequency of factor V Leiden mutation in Parsis––a highly endogamous population in India. Thromb Haemost 83(6):965PubMed Pawar AR, Ghosh K, Shetty S et al (2000) High frequency of factor V Leiden mutation in Parsis––a highly endogamous population in India. Thromb Haemost 83(6):965PubMed
30.
go back to reference Gupta N, Khan F, Tripathi M et al (2003) Absence of factor V Leiden (G1691A) mutation, FII G20210A allele in coronary artery disease in North India. Indian J Med Sci 57(12):535–542PubMed Gupta N, Khan F, Tripathi M et al (2003) Absence of factor V Leiden (G1691A) mutation, FII G20210A allele in coronary artery disease in North India. Indian J Med Sci 57(12):535–542PubMed
31.
go back to reference Ghosh K, Khare A, Kulkarni B et al (2004) Geography too determines the causes of inherited thrombophilia. J Thromb Haemost 2(2):363–364PubMedCrossRef Ghosh K, Khare A, Kulkarni B et al (2004) Geography too determines the causes of inherited thrombophilia. J Thromb Haemost 2(2):363–364PubMedCrossRef
33.
go back to reference Gresham D, Morar B, Underhill PA et al (2001) Origins and divergence of the Roma (Gypsies). Am J Hum Genet 69(6):1314–1331PubMedCrossRef Gresham D, Morar B, Underhill PA et al (2001) Origins and divergence of the Roma (Gypsies). Am J Hum Genet 69(6):1314–1331PubMedCrossRef
Metadata
Title
The frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma (Gypsy) ethnic group of Eastern Slovakia
Authors
Alexandra Bôžiková
Dana Gabriková
Adriana Sovičová
Regina Behulová
Soňa Mačeková
Iveta Boroňová
Eva Petrejčíková
Miroslav Soták
Jarmila Bernasovská
Ivan Bernasovský
Publication date
01-10-2012
Publisher
Springer US
Published in
Journal of Thrombosis and Thrombolysis / Issue 3/2012
Print ISSN: 0929-5305
Electronic ISSN: 1573-742X
DOI
https://doi.org/10.1007/s11239-012-0736-4

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