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Updated: Jun 9, 2025
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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
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Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank
Sapha Shibeeb1, Nada Al-Rayashi2, Nehal Shams2
1School of Health and Biomedical Sciences, RMIT University, P.O. Box 71, Bundoora, Melbourne, VIC 3083, Australia.
Summary
The factor V Leiden (FVL) A allele is more common in Qataris with a history of blood clots, suggesting a genetic link to thrombosis risk. MTHFR C677T and F2 G20210A variants showed no significant association.
Area of Science:
- Genetics
- Hematology
- Population Health
Background:
- Thrombophilia, a common condition predisposing individuals to blood clots, can lead to severe health issues.
- Understanding genetic predispositions is crucial for managing thrombosis risk.
Purpose of the Study:
- To investigate the prevalence of three key thrombophilia-related genetic variants: factor V Leiden (FVL), prothrombin (F2) G20210A, and MTHFR C677T.
- To examine the association of these variants with self-reported thrombosis in the Qatari population.
Main Methods:
- Genotyping of FVL (rs6025), F2 (rs1799963), and MTHFR (rs1801133) variants using TaqMan assays.
- Analysis of samples from 408 Qatari participants (304 controls, 104 with self-reported thrombosis) from the Qatar Biobank.
Main Results:
- FVL A allele carriage was significantly higher in individuals with a history of thrombosis (OR 3.6, p = 0.0002).
- FVL AA and GA genotypes were associated with lower mean platelet volume compared to the GG genotype (p = 0.03).
- No significant association was found for MTHFR C677T; F2 G20210A was too rare for analysis.
Conclusions:
- Factor V Leiden A allele carriage is significantly associated with a history of thrombosis in the Qatari population.
- Further research is needed to understand the interplay of genetics and environmental factors in thrombosis risk within this demographic.
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