Abstract
We studied the distribution of the Factor XIII gene V34L polymorphism in a sample of healthy Lebanese individuals to assess its prevalence and compare it with other populations. Factor XIII genotypes were determined using the Cardiovascular Disease (CVD) StripAssay (ViennaLab, Austria), which is based on a Polymerase Chain Reaction-Reverse hybridization technique. DNA from 205 unrelated healthy donors from our HLA database was used. The prevalence of Wild type, heterozygous, and homozygous genotypes was found to be 74.2%, 22.4%, and 3.4% respectively. The sampled Lebanese population showed that the prevalence of V34L carriers (25.8%) was lower than Caucasians in general (44.3%) and, interestingly, with a low allele frequency of 0.14 similar to that in Blacks and South Asians. This first report from Lebanon sheds light on an additional unique genetic feature of this population and will prospectively serve as a baseline statistical data for future investigations of the prevalence of Factor XIII V34L mutation in association with various clinical entities notably cardiovascular diseases.
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Webb GC, Coggan M, Ichinose A et al (1989) Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31–32.1 and restriction fragment length polymorphism at the locus. Hum Genet 81:157–160
Board PG, Webb GC, McKee J et al (1988) Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24–p25. Cytogenet Cell Genet 48:25–27
Wells P, Anderson J, Scarvelis D et al (2006) Factor XIII Val34Leu variant is protective against venous thromboembolism: a huge review and meta-analysis. Am J Epidemiol 164:101–109
Ariens R, Lai TS, Weisel J et al (2002) Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms. Blood 100:743–754
Catto A, Kohler H, Coore J et al (1999) Association of a common polymorphism in the factor XIII gene with venous thrombosis. Blood 93: 906–908
Mikkola H, Syrjala M, Rasi V et al (1994) Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 84:517–525
Kohler HP, Whitaker P, Grant PJ (1998) A common coding polymorphism in the FXIII A-subunit gene (FXIIIVal34Leu) affects cross-linking activity. Thromb Haemost 80:704
Kohler HP, Stickland MH, Ossei-Gerning N et al (1998) Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost 79:8–13
Wartiovaara U, Perola M, Mikkola H et al (1999) Association of FXIII Val34Leu with decreased risk of myocardial infarction in Finnish males. Atherosclerosis 142:295–300
Lim BC, Carter AM, Weisel JW et al (2003) Genetic regulation of fibrin structure and function: complex gene-environment interactions may modulate vascular risk. Lancet 361:1424–1431
Warner D, Mansfield MW, Grant PJ (2001) Coagulation factor XIII and cardiovascular disease in UK Asian patients undergoing coronary angiography. Thromb Haemost 85:408–411
Corral J, Gonzalez-Conejero R, Iniesta JA et al (2000) The FXIII Val34Leu polymorphism in venous and arterial thromboembolism. Haematologica 85:293–27
Endler G, Funk M, Haering D et al (2003) Is the factor XIII 34Val/Leu polymorphism a protective factor for cerebrovascular disease?. Br J Haematol 120:310–314
McCormack LJ, Kain K, Catto AJ et al (1998) Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost 80:523–524
van Hylckama Vlieg A, Komanasin N, Ariens RA et al (2002) FactorXIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis. Br J Haematol 119:169–175
Renner W, Koppel H, Hoffman C et al (2000) Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria. Thromb Res 99:35–39
Zidane M, de Visser MCH, ten Wolde M et al (2003) Frequency of the TAFI - 438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively proven pulmonary embolism. Thromb Haemost 90:439–445
Dowling NF, Austin H, Dilley A et al (2003) The epidemiology of venous thromboembolism in Caucasians and African-Americans: the GATE Study. J Thromb Haemost 1:80–87
Hoppe B, Tolou F, Dorner T, Kiesewetter H, Salama A (2006) Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism: frequency distribution in a healthy German population. Thromb Haemost 96:465–470
Balogh I, Szoke G, Karpati L et al (2000) Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia. Blood 96:2479–2486
Franco RF, Reitsma PH, Lourenco D et al (1999) Factor XIII Val34Leu is a genetic factor involved in the aetiology of venous thrombosis. Thromb Haemost 81:676–679
Alhenc-Gelas M, Reny JL, Aubry ML et al (2000) The FXIII Val 34 Leu mutation and the risk of venous thrombosis. Thromb Haemost 84:1117–1118
Margaglione M, Bossone A, Brancaccio V et al (2000) Factor XIII Val34Leu polymorphism and risk of deep vein thrombosis. Thromb Haemost 84:1118–1119
Heng CK, Lal S, Saha N, Low PS, Kamboh MI (2004) The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore. Hum Genet 114:186–191
Ariens RA, Philippou H, Nagaswami C et al (2000) The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. Blood 96:988–995
Gemmati D, Serino ML, Ongaro A et al (2001) A common mutation in the gene for coagulation factor XIII-A (VAL34Leu): a risk factor for primary intracerebral hemorrhage is protective against atherothrombotic diseases. Am J Hematol 67:183–188
Reiner AP, Frank MB, Schwartz SM (2002) Coagulation factor XIII polymorphisms and the risk of myocardial infarction and ischaemic stroke in young women. Br J Haematol 116:376–382
Aleksic N, Ahn C, Wang YW et al (2002) Factor XIIIA Val34Leu polymorphism does not predict risk of coronary artery disease: the atherosclerosis risk in communities (ARIC) study. Arterioscler Thromb Vasc Biol 22:348–352
Canavy I, Henry M, Morange PE (2000) Genetic polymorphisms and coronary artery disease in the south of France. Thromb Haemost 83:212–216
Atherosclerosis, Thrombosis, Vascular Biology Italian Study Group (2003) No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation 107:1117–1122
Catto AJ, Kohler HP, Bannan S et al (1998) Factor XIII gene Val34Leu genotype: a novel association with primary intracerebral haemorrhage. Stroke 29:813
Attie-Castro FA, Zago MA, Lavinha J et al (2000) Ethnic heterogeneity of the factor XIII Val34Leu polymorphism. Thromb Haemost 84:601–603
Corral J, Iniesta JA, Gonzalez-Conejero R, Villalon M, Vicente V (2001) Polymorphisms of clotting factor modify the risk for primary intracranial hemorrhage. Blood 97:2979–2782
Maurer MC, Trumbo TA, Isetti G, Turner BT Jr (2006) Probing interactions between the coagulants thrombin, Factor XIII, and fibrin(ogen). Arch Biochem Biophys 445:36–45
Trumbo TA, Maurer MC (2000) Examining thrombin hydrolysis of the factor XIII activation peptide segment leads to a proposal for explaining the cardioprotective effects observed with the factor XIII V34L mutation. J Biol Chem 275:20627–20631
Taher A, Khalil I, Shamseddine A et al (2001) High prevalence of Factor V Leiden mutation among healthy individuals and patients with deep venous thrombosis in Lebanon: is the eastern Mediterranean region the area of origin of this mutation? Thromb Haemost 86:723–724
Zaatari G, Otrock Z, Sabbagh AS, Mahfouz R (2006) Prevalence of factor V R2 (H1299R) polymorphism in the Lebanese population. Pathology 38: 442–444
Mahfouz R, Sabbagh AS, Zahed L et al (2006) Apolipoprotein E gene polymorphism and allele frequencies in the Lebanese population. Mol Biol Rep 33:145–149
Sabbagh AS, Otrock ZK, Mahfoud ZR, Zaatari GS, Mahfouz RA (2007) Angiotensin-converting enzyme gene polymorphism and allele frequencies in the lebanese population: prevalence and review of the literature. Mol Biol Rep 34:47–52
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Mahfouz, R.A.R., Sabbagh, A.S., Shammaa, D.M.R. et al. Factor XIII gene V34L mutation in the Lebanese population: Another unique feature in this community?. Mol Biol Rep 35, 375–378 (2008). https://doi.org/10.1007/s11033-007-9096-0
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DOI: https://doi.org/10.1007/s11033-007-9096-0