Abstract
Background Coagulation factor II G20210A and coagulation factor V (Leiden) G1691A single nucleotide polymorphisms (SNPs) are major inherited risk factors of venous thromboembolism. In view of the heterogeneity in their world distribution and lack of sufficient information about their distribution among Chechans, we addressed the prevalence of these SNPs in the Chechan population in Jordan, a genetically isolated population. Methods and Results factor II G20210A and factor V Leiden SNPs were analysed by polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) method and Amplification refractory mutation detection system (ARMS) respectively in 120 random unrelated subjects from the Chechan population in Jordan. Among the subjects studied for factor II G20210A mutation there were three individuals carrying this mutation as heterozygous (one female and two male), giving a prevalence of 2.5 % and an allele frequency of 1.25 %. No homozygous factor II allele was found. Factor V Leiden G1691A mutation was detected as heterozygous in 22 of 120 of individuals (17 female and five male) indicating a prevalence of 18.3 % and allele frequency of 9.2 %. No homozygous allele was found. Conclusion Our results indicated that prevalence of factor II G20210A mutation in the Chechan population is similar to prevalence in Jordan and Caucasian populations (1–6 %) while the prevalence of factor V Leiden was higher in the Chechan population compared to Jordan and Caucasian populations (2–15 %).
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Bauduer F, Lacombe D (2005) Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics. Mol Genet Metab 86(1–2):91–99
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369(6475):64–67
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(6):1504–1508
Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (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(10):3698–3703
Dahlback B, Carlsson M, Svensson PJ (1993) Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 90(3):1004–1008
De Stefano V, Martinelli I, Mannucci PM, Paciaroni K, Chiusolo P, Casorelli I, Rossi E, Leone G (1999) The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 341(11):801–806
Martinelli I, Bucciarelli P, Margaglione M, De Stefano V, Castaman G, Mannucci PM (2000) The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. Br J Haematol 111(4):1223–1229
Rosendaal FR (1999) Venous thrombosis: a multicausal disease. Lancet 353(9159):1167–1173
Zivelin A, Griffin JH, Xu X, Pabinger I, Samama M, Conard J, Brenner B, Eldor A, Seligsohn U (1997) A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 89(2):397–402
Zivelin A, Rosenberg N, Faier S, Kornbrot N, Peretz H, Mannhalter C, Horellou MH, Seligsohn U (1998) A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood 92(4):1119–1124
Rees DC, Chapman NH, Webster MT, Guerreiro JF, Rochette J, Clegg JB (1999) Born to clot: the European burden. Br J Haematol 105(2):564–566
Nasidze I, Ling EY, Quinque D, Dupanloup I, Cordaux R, Rychkov S, Naumova O, Zhukova O, Sarraf-Zadegan N, Naderi GA, Asgary S, Sardas S, Farhud DD, Sarkisian T, Asadov C, Kerimov A, Stoneking M (2004) Mitochondrial DNA and Y-chromosome variation in the Caucasus. Ann Hum Genet 68(Pt 3):205–221
Kailani W (2002) Chechens in the Middle East: between original and host cultures. Caspian Studies Program
Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S (1982) Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes. Hemoglobin 6(1):27–36
Bortolin S, Black M, Modi H, Boszko I, Kobler D, Fieldhouse D, Lopes E, Lacroix JM, Grimwood R, Wells P, Janeczko R, Zastawny R (2004) Analytical validation of the tag-it high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin Chem 50(11):2028–2036
Eid SS, Rihani G (2004) Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in 200 healthy Jordanians. Clin Lab Sci 17(4):200–202
Angchaisuksiri P, Pingsuthiwong S, Aryuchai K, Busabaratana M, Sura T, Atichartakarn V, Sritara P (2000) Prevalence of the G1691A mutation in the factor V gene (factor V Leiden) and the G20210A prothrombin gene mutation in the Thai population. Am J Hematol 65(2):119–122
Almawi WY, Keleshian SH, Borgi L, Fawaz NA, Abboud N, Mtiraoui N, Mahjoub T (2005) Varied prevalence of factor V G1691A (Leiden) and prothrombin G20210A single nucleotide polymorphisms among Arabs. J Thromb Thrombolysis 20(3):163–168
Abu-Amero KK, Wyngaard CA, Kambouris M, Dzimiri N (2002) Prevalence of the 20210 G->A prothrombin variant and its association with coronary artery disease in a Middle Eastern Arab population. Arch Pathol Lab Med 126(9):1087–1090
Akar N, Misirlioglu M, Akar E, Avcu F, Yalcin A, Sozuoz A (1998) Prothrombin gene 20210 G-A mutation in the Turkish population. Am J Hematol 58(3):249
Rosendaal FR, Doggen CJ, Zivelin A, Arruda VR, Aiach M, Siscovick DS, Hillarp A, Watzke HH, Bernardi F, Cumming AM, Preston FE, Reitsma PH (1998) Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 79(4):706–708
Nusier MK, Radaideh AM, Ababneh NA, Qaqish BM, Alzoubi R, Khader Y, Mersa JY, Irshaid NM, El-Khateeb M (2007) Prevalence of factor V G1691A (Leiden) and prothrombin G20210A polymorphisms among apparently healthy Jordanians. Neuroendocrinol Lett 28(5):699–703
Lucotte G, Mercier G (2001) Population genetics of factor V Leiden in Europe. Blood Cells Mol Dis 27(2):362–367
Garewal G, Das R, Trehan U (1997) Factor V Leiden: prevalence in the indigenous population and cases of thrombosis in North India. Br J Haematol 97(4):940
Rahimi Z, Vaisi-Raygani A, Mozafari H, Kharrazi H, Rezaei M, Nagel RL (2008) Prevalence of factor V Leiden (G1691A) and prothrombin (G20210A) among Kurdish population from Western Iran. J Thromb Thrombolysis 25(3):280–283
Rosen SB, Sturk A (1997) Activated protein C resistance—a major risk factor for thrombosis. Eur J Clin Chem Clin Biochem 35(7):501–516
Acknowledgments
This study has been supported by the Hashemite University. We would like to thank Dr. M El Khateeb for giving us the opportunity to use the facilities at the National Center for Diabetes, Endocrinology and Genetics. We would also like to thank the Chechan community for their cooperation in this study.
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Dajani, R., Fatahallah, R., Dajani, A. et al. Prevalence of coagulation factor II G20210A and factor V G1691A Leiden polymorphisms in Chechans, a genetically isolated population in Jordan. Mol Biol Rep 39, 9133–9138 (2012). https://doi.org/10.1007/s11033-012-1785-7
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DOI: https://doi.org/10.1007/s11033-012-1785-7