|
|
 Previous Article | Table of Contents | Next Article 
Blood, Vol. 92 No. 4 (August 15), 1998:
pp. 1119-1124
RAPID COMMUNICATION
A Single Genetic Origin for the Common Prothrombotic G20210A
Polymorphism in the Prothrombin Gene
Ariella Zivelin,
Nurit Rosenberg,
Shlomit Faier,
Nurit Kornbrot,
Hava Peretz,
Christine Mannhalter,
Marie Helene Horellou, and
Uri Seligsohn
From the Institute of Thrombosis and Hemostasis, Department of
Hematology, Sheba Medical Center, Tel Aviv University, Tel Aviv,
Israel; the Department of Laboratory Medicine, University of Vienna,
Vienna, Austria; and The Central Laboratory of Hematology, Hotel-Dieu
Hospital, Paris, France.
The polymorphism G20210A in the 3 untranslated region of the
prothrombin gene is associated with an increased level of factor II
activity and confers a twofold to fivefold increase in the risk for
venous thromboembolism. Among Caucasian populations, the prevalence of
factor II G20210A heterozygotes is 1% to 6%, whereas in non-Caucasian
populations it is very rare or absent. The aim of the present study was
to discern whether factor II G20210A originated from a single or
recurrent mutational events. Allele frequencies of four dimorphisms
spanning 16 of 21 kb of the factor II gene were determined in 133 unrelated Caucasian subjects of Jewish, Austrian, and French origins
who bore factor II G20210A (10 homozygotes and 123 heterozygotes) and
110 Caucasian controls. Remarkable differences in the allele
frequencies for each dimorphism were observed between the study groups
(P = .0007 or less), indicating strong linkage disequilibrium
and suggesting a founder effect. Indeed, a founder haplotype was
present in 68% of 20210A mutant alleles and only in 34% of 20210G
normal alleles (P < .0001). These data strongly support a
single origin for factor II G20210A that probably occurred after the
divergence of Africans from non-Africans and of Caucasoid from
Mongoloid subpopulations.
© 1998 by The American Society of Hematology.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
J. L. Ferguson and D. R. Hennion
Portal Vein Thrombosis: An Unexpected Finding in a 28-Year-Old Male With Abdominal Pain
J Am Board Fam Med,
May 1, 2008;
21(3):
237 - 243.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Kabukcu, N. Keskin, A. Keskin, and E. Atalay
The Frequency of Factor V Leiden and Concomitance of Factor V Leiden With Prothrombin G20210A Mutation and Methylene Tetrahydrofolate Reductase C677T Gene Mutation in Healthy Population of Denizli, Aegean Region of Turkey
Clinical and Applied Thrombosis/Hemostasis,
April 1, 2007;
13(2):
166 - 171.
[Abstract]
[PDF]
|
|
|
|
|
|
|
D. Bosler, J. Mattson, and D. Crisan
Phenotypic Heterogeneity in Patients with Homozygous Prothrombin 20210AA Genotype: A Paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology
J. Mol. Diagn.,
September 1, 2006;
8(4):
420 - 425.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Zivelin, R. Mor-Cohen, V. Kovalsky, N. Kornbrot, J. Conard, F. Peyvandi, P. A. Kyrle, R. Bertina, F. Peyvandi, J. Emmerich, et al.
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24 000 years ago
Blood,
June 15, 2006;
107(12):
4666 - 4668.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Zivelin, R. Mor-Cohen, V. Kovalsky, J. Conard, F. Peyvandi, I. Pabinger, R. Bertina, F. Peyvandi, J. Emmerich, and U. Seligsohn
The Prothrombotic Polymorphism Prothrombin G20210A Is an Ancestral Mutation That Arose in Caucasians Approximately 20,000 Years Ago.
Blood (ASH Annual Meeting Abstracts),
November 16, 2005;
106(11):
729 - 729.
[Abstract]
|
|
|
|
|
|
|
G. Kovalevsky, C. R. Gracia, J. A. Berlin, M. D. Sammel, and K. T. Barnhart
Evaluation of the Association Between Hereditary Thrombophilias and Recurrent Pregnancy Loss: A Meta-analysis
Arch Intern Med,
March 8, 2004;
164(5):
558 - 563.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
N. von Ahsen and M. Oellerich
The intronic prothrombin 19911A>G polymorphism influences splicing efficiency and modulates effects of the 20210G>A polymorphism on mRNA amount and expression in a stable reporter gene assay system
Blood,
January 15, 2004;
103(2):
586 - 593.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. D. McBane II
Genetically Determined Procoagulant States and Heparin Use
Seminars in Cardiothoracic and Vascular Anesthesia,
December 1, 2003;
7(4):
427 - 442.
[Abstract]
[PDF]
|
|
|
|
|
|
|
C. Duggan, K. Marriott, R. Edwards, and J. Cuzick
Inherited and Acquired Risk Factors for Venous Thromboembolic Disease Among Women Taking Tamoxifen to Prevent Breast Cancer
J. Clin. Oncol.,
October 1, 2003;
21(19):
3588 - 3593.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
U. Seligsohn and A. Lubetsky
Genetic Susceptibility to Venous Thrombosis
N. Engl. J. Med.,
April 19, 2001;
344(16):
1222 - 1231.
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. M. Soria, L. Almasy, J. C. Souto, I. Tirado, M. Borell, J. Mateo, S. Slifer, W. Stone, J. Blangero, and J. Fontcuberta
Linkage analysis demonstrates that the prothrombin G20210A mutation jointly influences plasma prothrombin levels and risk of thrombosis
Blood,
May 1, 2000;
95(9):
2780 - 2785.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Nguyen
State-of-the-Art Review : Review and Management of Patients With the Prothrombin G20210A Polymorphism
Clinical and Applied Thrombosis/Hemostasis,
April 1, 2000;
6(2):
94 - 99.
[Abstract]
[PDF]
|
|
|
|
|
|
|
D. A. Lane and P. J. Grant
Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease
Blood,
March 1, 2000;
95(5):
1517 - 1532.
[Full Text]
[PDF]
|
|
|
|
|
|
|
O. Salomon, D. M. Steinberg, A. Zivelin, S. Gitel, R. Dardik, N. Rosenberg, S. Berliner, A. Inbal, A. Many, A. Lubetsky, et al.
Single and Combined Prothrombotic Factors in Patients With Idiopathic Venous Thromboembolism : Prevalence and Risk Assessment
Arterioscler. Thromb. Vasc. Biol.,
March 1, 1999;
19(3):
511 - 518.
[Abstract]
[Full Text]
[PDF]
|
|
|
| |
