The Royal Dutch Pharmacists Association - Pharmacogenetics Working Group has evaluated therapeutic dose recommendations for propafenone based on Factor V Leiden (FVL, or F5) genotype (PMID:21412232). They suggest that in individuals who carry the Factor V Leiden allele and have a family history of thrombotic events, estrogen-containing oral contraceptives should be avoided and alternative forms of contraception used.
| Phenotype (Genotype) | Therapeutic Dose Recommendation | Level of Evidence | Clinical Relevance |
|---|---|---|---|
| F5 homozygous rs6025 TT | Positive (family) history of thrombotic events: avoid estrogen-containing oral contraceptive and select alternative (e.g., copper intrauterine device, progestin-only contraceptive). Negative (family) history of thrombotic events: avoid additional risk factors (e.g., obesity, smoking) | Published controlled studies of moderate quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints. | Clinical effect (S): long-standing discomfort (> 168 hr), permanent symptom or invalidating injury e.g. failure of prophylaxis of atrial fibrillation; venous thromboembolism; decreased effect of clopidogrel on inhibition of platelet aggregation; ADE resulting from increased bioavailability of phenytoin; INR > 6.0; neutropenia 0.5-1.0x10 9/l; leucopenia 1.0-2.0x10 9/l; thrombocytopenia 25-50x10 9/l; severe diarrhea |
| F5 heterozygous rs6025 CT | Positive (family) history of thrombotic events: avoid estrogen-containing oral contraceptive and select alternative (e.g., copper intrauterine device, progestin-only contraceptive). Negative (family) history of thrombotic events: avoid additional risk factors (e.g., obesity, smoking) | Published controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints. | Clinical effect (S): long-standing discomfort (> 168 hr), permanent symptom or invalidating injury e.g. failure of prophylaxis of atrial fibrillation; venous thromboembolism; decreased effect of clopidogrel on inhibition of platelet aggregation; ADE resulting from increased bioavailability of phenytoin; INR > 6.0; neutropenia 0.5-1.0x10 9/l; leucopenia 1.0-2.0x10 9/l; thrombocytopenia 25-50x10 9/l; severe diarrhea |
- *See Methods or PMID: 18253145 for definition of "good" and "moderate" quality.
- S: statistically significant difference.
PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.
PharmGKB contains no clinical annotations for this gene. To report clinical variants, click here.
PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs6025 | F5:Factor V Leiden, c.1601A>G, c.1601G>A, g.167785673T>C, g.21007691T>C, g.41721A>G, g.41721G>A, p.Arg534Gln | T/C | Not Available |
Overview
| Alternate Names: | OTTHUMP00000032547; OTTHUMP00000032548; activated protein c cofactor; coagulation factor V; coagulation factor V jinjiang A2 domain; factor V; factor V Leiden; labile factor; proaccelerin, labile factor |
|---|---|
| Alternate Symbols: | FVL; PCCF |
| PharmGKB Accession Id: | PA159 |
Details
| Cytogenetic Location: | chr1 : q24.2 - q24.2 |
|---|---|
| GP mRNA Boundary†: | chr1 : 169481192 - 169555769 |
| GP Gene Boundary†: | chr1 : 169478192 - 169565769 |
| Strand: | minus |
| Product Name: | No data available |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.
External Pathways
Links to non-PharmGKB pathways.
- Common Pathway - (Reactome via Pathway Interaction Database)
- Exocytosis of Alpha granule - (Reactome via Pathway Interaction Database)
- extrinsic prothrombin activation pathway - (BioCarta via Pathway Interaction Database)
- intrinsic prothrombin activation pathway - (BioCarta via Pathway Interaction Database)
LinkOuts
- UniProtKB:
- FA5_HUMAN (P12259)
- Ensembl:
- ENSG00000198734
- GenAtlas:
- F5
- GeneCard:
- GC01M169481 (2153)
- SOURCE:
- F5
- MutDB:
- F5
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.