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Prothrombin G20210A Mutant Genotype Is a Risk Factor for
Cerebrovascular Ischemic Disease in Young Patients
Valerio De Stefano,
Patrizia Chiusolo,
Katia Paciaroni,
Ida Casorelli,
Elena Rossi,
Marco Molinari,
Serenella Servidei,
Pietro A. Tonali, and
Giuseppe Leone
From the Department of Hematology, Catholic University, Rome, Italy;
the Department of Neurology, Catholic University, Rome, Italy; and the
IRCCS Santa Lucia, Rome, Italy.
The factor II G20210A mutation is a recently identified congenital
risk factor for venous thrombosis. Its role in artery disease is still
undefined. We investigated 72 patients (35 male and 37 female) with
documented ischemic stroke occurred before 50 years of age and without
risk factors such as diabetes, hypertension, and hyperlipidemia; 198 thrombosis-free individuals were investigated as the control group. We
found 7 heterozygotes (9.7%) and 2 homozygotes (2.7%) for the mutant
factor II allele among the patients and 5 heterozygotes (2.5%) among
the controls; the mutant factor II allele frequency in the patient
group (7.6%, 95% confidence interval [CI], 3.3 to 11.9) was
significantly higher than in the controls (1.2%; 95% CI, 0.1 to 2.3;
P = .0001). The prevalence of other investigated mutant
alleles (factor V G1691A, methylenetetrahydrofolate reductase C677T)
did not significantly differ between the two groups. The odds ratio for
ischemic stroke associated with the carriership of the mutant factor II
allele (both heterozygous and homozygous genotypes) was 5.1 (95% CI,
1.6 to 16.3). Heterozygous genotype was associated with a 3.8-fold
increased risk for cerebral ischemia (95% CI, 1.1 to 13.1); in
particular, assuming an expected prevalence of homozygotes in the
general population of 1.6 to 10,000 according to the Hardy-Weinberg
equilibrium, the risk associated with the homozygous genotype was
estimated exceedingly high, being increased 208-fold.
Blood, Vol. 91 No. 10 (May 15), 1998:
pp. 3562-3565
© 1998 by The American Society of Hematology.
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