rs6025 - Factor V Leiden - Thrombophilia Risk
Gene: F5 (Factor V)
rs6025 is the Factor V Leiden mutation, the most common inherited cause of abnormal blood clotting (thrombophilia). The A allele creates a variant Factor V protein that is resistant to inactivation by Protein C, leading to a hypercoagulable state.
Genotype Interpretations
Normal Factor V - no increased clotting risk from this variant
Heterozygous carrier - 3-8x increased DVT/PE risk. Important for birth control and surgery decisions
Homozygous - ~80x increased DVT/PE risk. Requires anticoagulation management. Avoid estrogen-containing contraceptives
Population Context
Factor V Leiden is almost exclusively found in European populations (~5% carrier frequency). It's extremely rare in African, East Asian, and Indigenous American populations. The mutation is estimated to have arisen ~20,000 years ago in Europe.
Clinical Relevance
Carriers should avoid estrogen-containing contraceptives and HRT, take precautions during long flights/surgery, and inform surgeons and OB/GYNs. Homozygotes typically require lifelong anticoagulation.
Sources
- [1] Bertina RM et al. (1994) Nature 369:64-7
- [2] Rosendaal FR et al. (2005) J Thromb Haemost 3:1925-32
What's your rs6025 genotype?
Upload your 23andMe or AncestryDNA raw data to instantly see your result for rs6025 and 200+ other variants. 100% private, processed in your browser.
Check My DNA