Prothrombin Gene G ₂₀₂₁₀ →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

Abstract

Background and Purpose-It has been recently reported that a G3 A transition at nucleotide position 20210 in the 3Ј-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of deep venous thrombosis. To date, it is unknown whether this polymorphism also represents a risk factor for cerebral venous thrombosis (CVT). Methods-Venous blood samples were collected from 45 patients with CVT and from 354 healthy blood donors as controls. A second control group consisted of 131 subjects with acute ischemic stroke or transient ischemic attack (TIA). Genomic DNA was isolated from peripheral blood leukocytes. Amplification of DNA was performed by polymerase chain reaction (PCR). The G3 A transition at nucleotide position 20210 of the prothrombin gene was detected by allele-specific restriction digestion. Results-The G 20210 3 A transition in the prothrombin gene was found in a heterozygous form in 4 of 45 patients with CVT (8.9%) and in 8 of 354 healthy control subjects (2.3%). This difference was statistically significant (Pϭ0.010). The G 20210 3 A transition increased the relative risk for CVT approximately 5-fold (age-adjusted odds ratio 5.7; 95% CI 1.5 to 21.5). In contrast, in the group of patients with acute cerebral ischemia, only 3 of 131 subjects (2.3%) were heterozygous for the G 20210 3 A transition, which corresponded to the prevalence in the group of healthy blood donors. Conclusions-The recently described G 20210 3 A transition in the 3Ј-untranslated region of the prothrombin gene is an inherited risk factor for CVT but obviously not for acute ischemic stroke or TIA. (Stroke. 1998;29:1765-1769.)

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Diagnosis and Management of Cerebral Venous Thrombosis

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Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis

“…Of the 17 studies included, 16 were written in the English language [21][22][23][24]26,[29][30][31]35,[37][38][39]41,43,45,46 and 1 in the Chinese language. 32 All included studies were case-control studies.…”