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Thromb Haemost 2000; 84(04): 601-603
DOI: 10.1055/s-0037-1614074
Review Article
Schattauer GmbH

Ethnic Heterogeneity of the Factor XIII Val34Leu Polymorphism

Flávia A. Attié-Castro
1   From the Department of Clinical Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil
,
Marco A. Zago
1   From the Department of Clinical Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil
2   Blood Center of Ribeirão Preto, Brazil
,
João Lavinha
3   Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal
,
J. Elion
4   Laboratoire de Biochimie Génétique, INSERM U458, Paris, France
,
L. Rodriguez-Delfin
1   From the Department of Clinical Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil
,
João F.Guerreiro
5   Laboratory of Human and Medical Genetics, Federal University of Pará, Belém, Brazil
,
Rendrik F. Franco
2   Blood Center of Ribeirão Preto, Brazil
› Author AffiliationsF. A. Attié-Castro was a recipient of a FAPESP Grant (99/03215-9). This work was partly supported by FAPESP, FUNDHERP and Grant N. TS3*-CT93-0244 from the European Union. Authors are grateful to M.H. Tavella and L. Ferrão for excellent technical assistance.
Further Information

Publication History

Received 31 January 2000

Accepted after resubmission 31 May 2000

Publication Date:
11 December 2017 (online)

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Summary

A polymorphism in the coagulation factor XIII gene (FXIII Val34Leu) has been recently described to confer protection for arterial and venous thrombosis and to predispose to intracerebral hemorrhage. At present it is known that FXIII Val34Leu is prevalent in Caucasians, but information upon its distribution in different ethnic groups is scarce. We investigated the prevalence of FXIIIVal34Leu in 450 unrelated subjects of four ethnic groups: 97 Caucasians (Brazilians of European descent and Portuguese), 149 Blacks (Brazilians, and Africans from Cameroon, Zaire and Angola), 40 Asians (Japanese descendents) and 164 Amerindians from South America. PCR amplification of exon 2 of FXIII gene followed by MseI restriction-digestion was employed to define the genotypes. FXIIIVal34Leu was detected in 44.3% of the Caucasians, in 28.9% of the Blacks, in 2.5% of the Asians and in 51.2% of the Amerindians. These data confirm that FXIII Val34Leu is highly prevalent in Caucasians and indicate that it is rarer in populations of African origin. The very high frequency among Amerindians indicates that FXIII Val34Leu is not absent among Asians, and since it has a very low prevalence in Japanese, a heterogeneity in its distribution in Asia may be inferred. Taken together, our data showed that FXIII Val34Leu exhibits a significant ethnic heterogeneity, a finding that is relevant for studies relating this polymorphism with thrombotic and bleeding disorders.

Key words

Factor XIII - ethnic groups - thrombosis - risk factor
 

  • References

  • 1 Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläine E, Peltonen L, Palotie A. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84: 517-25.
    PubMedGoogle Scholar
  • 2 Anwar R, Gallivan L, Edmonds SD, Markham AF. Genotype/Phenotype correlations for coagulation Factor XIII: specific normal polymorphisms are associated with high or low factor FXIII specific activity. Blood 1999; 93: 897-905.
    PubMedGoogle Scholar
  • 3 Kohler HP, Stickland MH, Ossei-Gerning N, Carter A, Mikkola H, Grant PJ. Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost 1998; 79: 8-13.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 4 McCormack LJ, Kain K, Catto AJ, Kohler HP, Stickland MH, Grant PJ. Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost 1998; 80: 523-4.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 5 Franco RF, Pazin-Filho AP, Tavella MH, Simıes MV, Marin-Neto JA, Zago MA. Factor XIII Val34Leu and the risk of myocardial infarction. Haematologica 2000; 85: 67-71.
    PubMedGoogle Scholar
  • 6 Catto AJ, Kohler HP, Coore J, Mansfiel MW, Stickland MH, Grant PJ. Association of a common polymorphism in the factor XIII gene with venous thrombosis. Blood 1999; 93: 906-8.
    PubMedGoogle Scholar
  • 7 Franco RF, Reitsma PH, Lourenço D, Maffei FH, Morelli V, Tavella MH, Araújo AG, Piccinato CE, Zago MA. Factor XIII Val34Leu is a genetic factor involved in the aetiology of venous thrombosis. Thromb Haemost 1999; 81: 676-9.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 8 Catto AJ, Kohler HP, Bannan S, Stickland M, Carter A, Grant PJ. Factor XIII Val34Leu. A novel association with primary intracerebral hemorrhage. Stroke 1998; 29: 813-16.
    CrossrefPubMedGoogle Scholar
  • 9 Kohler HJ, Ariëens RAS, Whitaker P, Grant PJ. A common coding polymorphism in the FXIII A-subunit gene affects cross-linking activity. Thromb Haemost 1998; 80: 704.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 10 Franco RF, Santos SEB, Elion J, Tavella MH, Zago MA. Prevalence of the G20210A polymorphism in the 3’-untranslated region of the prothrombin gene in different populations. Acta Haematologica 1998; 100: 9-12.
    CrossrefPubMedGoogle Scholar
  • 11 Pepe G, Rickards O, Vanegas OC, Brunelli T, Gori AM, Iusti B, Attanasio M, Prisc D, Gensini GF, Abbate R. Prevalence of factor V Leiden mutation in non-European populations. Thromb Haemost 1997; 77: 329-31.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 12 Kangsadalampai S, Board PG. The Val34Leu polymorphism in the A-subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role catalytic activity. Blood 1998; 92: 2766-70.
    PubMedGoogle Scholar
  • 13 Elbaz A, Poirier O, Canaple S, Chédru F, Cambien F, Amarenco P. The association between the Val34Leu polymorphism in the factor XIII gene and brain infarction. Blood 2000; 95: 586-91.
    PubMedGoogle Scholar