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A genetic study of Factor V Leiden (G1691A) mutation in young ischemic strokes with large vessel disease in a South Indian population
Affiliation:1. Ellen and Martin Prosserman Centre for Neuromuscular Diseases, Division of Neurology, Department of Medicine, University Health Network, University of Toronto, Toronto, Canada;2. Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai, Hospital and Lunenfeld Tanenbaum Research Institute, University of Toronto, Toronto, Canada;1. Department of Genetics, Mahaveer Hospitals and Research Centers, AC Guard-500 004 Hyderabad, India;2. Department of Genetics, Osmania University, Tarnaka, 500007 Hyderabad, India;3. Department of Pathology and Microbiology, University of Nebraska and Medical Center, Omaha, NE 68198-7660. USA;4. Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia;5. Princess Al-Jawhara Centre of Excellence in Research of Hereditary Disorders, Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia;6. Department of Neurology, Nizam''s Institute of Medical Sciences, Panjagutta, 500082 Hyderabad, India;7. Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar-500068, Hyderabad 500 068, India
Abstract:Factor V Leiden (FVL) has been, by far, the most investigated gene mutation, with 26 studies to date, on its role in arterial strokes. Overall, a meta-analysis of all these studies taken together showed that carriers of the Factor V Leiden allele were 1.33 times more likely to develop arterial strokes when compared to controls. We subjected a highly select subset of young strokes, with large vessel infarcts, to genetic analysis for FVL mutation and compared them with matched healthy controls to look for a statistically significant association. In this prospective study, 6/120 cases (5%) and 2/120 controls (1.6%) were positive for heterozygous FVL (G1691A) mutation. The higher prevalence of FVL mutation in cases (5%) compared to controls (1.6%) did not show statistical significance with a Pearson’s Chi square P value of 0.15. The Odds Ratio (OR) for risk of large vessel disease in FVL positive cases was 3.10 (95% CI of 0.61–15.7). FVL mutation (G1691A) in young Indian subjects with ischemic strokes does not seem to be significantly associated with large vessel disease.
Keywords:Factor V Leiden  Large vessel infarct  Heterozygous mutation
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