© 1997 American Heart Association, Inc.
Articles |
A Prothrombin Gene Mutation Is Significantly Associated With Venous Thrombosis
From the Departments of Medicine (R.K.K., L.A.M., M.B.H.) and Pathology (S.G.S., M.B.H.), State University of New York at Stony Brook.
Correspondence to Mae B. Hultin, MD, Division of Hematology, Health Sciences Center T-15/040, Stony Brook, NY 11794-8151. E-mail Mhultin{at}mail.som.sunysb.edu
Abstract This case-control study examined the prevalence of a
prothrombin gene mutation in the 3'-untranslated region (UTR) first
reported by Poort et al in Dutch subjects with a history of venous
thrombosis and in matched control subjects without a history of
thrombosis. We tested the hypothesis that the presence of the 3'UTR
prothrombin mutation would convey a higher risk of venous or
arterial thrombosis and therefore would be found in a
higher-than-normal percentage of subjects with a history of thrombosis.
Our study included 100 subjects: 50 with a history of thrombosis (21
with venous thrombosis and 29 with arterial thrombosis, who
had been recruited from an anticoagulation clinic) and 50 control
subjects without a history of thrombosis. DNA from these subjects was
analyzed by polymerase chain reaction and agarose gel
electrophoresis. We found a statistically significant increase in the
prevalence of the 3'UTR mutation in subjects with a history of venous
thrombosis compared with subjects without thrombosis. The prevalence of
the 3'UTR prothrombin mutation was 19% (4/21; 3 heterozygous and 1
homozygous) in subjects with a history of venous thrombosis, 0% (0/29)
in subjects with a history of arterial thrombosis, and 2%
(1/50) in control subjects (P<.0245, by Fisher's exact
test for comparison of subjects with versus those without a history of
venous thrombosis). The G
A mutation at nucleotide
20 210 in the 3'UTR was confirmed by direct DNA sequencing. The
similar increased prevalence of the 3'UTR mutation in subjects with
venous thrombosis in our population and in the Dutch population studied
by Poort et al suggests that this mutation is an important risk factor
for venous thrombosis in the general white population.
Key Words: prothrombin • genetic mutation • venous thrombosis • arterial thrombosis • polymerase chain reaction
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