Do common prothrombotic mutations influence the risk of cerebral ischaemia in patients with patent foramen ovale? Systematic review and meta-analysis.

Abstract

Conflicting results are available on the association of prothrombotic genetic abnormalities with patent foramen ovale (PFO)-related cerebral ischaemia. We comprehensively sought and identified studies of the association of both the factor V Leiden (FV(G1691A) mutation) and the prothrombin mutation (PT(G20210A) mutation) with PFO-related cerebral ischaemia and did meta-analyses to assess the evidence for such a relation. We analysed data from six eligible studies in 856 cases and 1,001 control subjects. Additional unpublished data from a new series including 463 subjects were also entered into the analysis. The PT(G20210A) variant was significantly associated with PFO-related stroke in comparison with both control subjects (odds ratio [OR] 3.85; 95% confidence interval [CI] 2.22 to 6.66) and non-PFO-associated stroke patients (OR 2.31; 95% CI 1.20 to 4.43), whereas a trend toward an association was observed for the FV(G1691A) mutation (OR 1.18; 95% CI 0.73 to 1.90, compared to control subjects; OR 1.14; 95% CI 0.62 to 2.09, compared to non-PFO-associated stroke patients). The status of carrier of either the FV(G1691A) mutation or the PT(G20210A) variant was associated with a risk for stroke of 1.98 (95% CI 1.38 to 2.83) and 1.62 (95% CI 1.03 to 2.57), as compared to control subjects and non-PFO-associated stroke patients, respectively. Addition of common prothrombotic genetic variants to standard initial screening may contribute to stratifying PFO-associated stroke patients at different risk of ischaemic events and targeting secondary prevention strategies.

• Authors: Alessandro Pezzini, Mario Grassi, Elisabetta Del Zotto, Alessia Giossi, Irene Volonghi, Paolo Costa, Armin Grau, Mauro Magoni, Alessandro Padovani, Christoph Lichy
• Journal: Thrombosis and haemostasis (Thromb Haemost) Vol. 101 Issue 5 Pg. 813-7 (May 2009) ISSN: 0340-6245 [Print] Germany
• PMID: 19404532 (Publication Type: Journal Article, Meta-Analysis, Review, Systematic Review)

Chemical References

• factor V Leiden
• Factor V
• Prothrombin

Topics

• Brain Ischemia (blood, genetics)
• Factor V (genetics)
• Foramen Ovale, Patent (blood, complications, genetics)
• Genetic Predisposition to Disease
• Genetic Testing
• Humans
• Mutation
• Odds Ratio
• Prothrombin (genetics)
• Risk Assessment
• Risk Factors
• Stroke (blood, genetics)
• Thrombosis (blood, genetics)