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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
SR Poort, FR Rosendaal, PH Reitsma and RM Bertina
Hemostasis and Thrombosis Research Center, Leiden University Hospital, The
Netherlands.
We have examined the prothrombin gene as a candidate gene for venous
thrombosis in selected patients with a documented familial history of
venous thrombophilia. All the exons and the 5'- and 3'-UT region of the
prothrombin gene were analyzed by polymerase chain reaction and direct
sequencing in 28 probands. Except for known polymorphic sites, no
deviations were found in the coding regions and the 5'-UT region. Only one
nucleotide change (a G to A transition) at position 20210 was identified in
the sequence of the 3'-UT region. Eighteen percent of the patients had the
20210 AG genotype, as compared with 1% of a group of healthy controls (100
subjects). In a population-based case-control study, the 20210 A allele was
identified as a common allele (allele frequency, 1.2%; 95% confidence
interval, 0.5% to 1.8%), which increased the risk of venous thrombosis
almost threefold odds ratio, 2.8; 95% confidence interval, 1.4 to 5.6. The
risk of thrombosis increased for all ages and both sexes. An association
was found between the presence of the 20210 A allele and elevated
prothrombin levels. Most individuals (87%) with the 20210 A allele are in
the highest quartile of plasma prothrombin levels (> 1.15 U/mL).
Elevated prothrombin itself also was found to be a risk factor for venous
thrombosis.
Volume 88,
Issue 10,
pp. 3698-3703,
11/15/1996
Copyright © 1996 by The American Society of Hematology
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