|(A;A)||3.4||Prone to thrombosis; also higher risk for cerebral stroke if PFO+|
|(A;G)||3.3||Prone to thrombosis; also higher risk for cerebral stroke if PFO+|
Due to the interactions of the corresponding protein with the Factor V protein, SNPs in these two coagulation-related genes are often studied together. In particular, rs1799963 is often studied together with rs6025.
For a more complete discussion, see rs6025.
In addition to the literature associating the G20210A variant with thromboembolism in general, several studies have found that this variant significantly (2 - 20 fold) increases the risk for ischemic stroke (aka cerebral ischemia) in individuals with patent foramen ovale (PFO). It is estimated that PFO is present in ~25% of the (normal/healthy) population.[PMID 19404532],[PMID 22784820]
[PMID 19786296] Platelet glycoprotein GP VI 13254C allele is an independent risk factor of premature myocardial infarction
[PMID 21291465] The association of genetic polymorphisms with cerebral palsy: a meta-analysis
[PMID 21332313] Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion
[PMID 22147897] Comparative incidence of a first thrombotic event in purely obstetric antiphospholipid syndrome with pregnancy loss: the NOH-APS observational study
[PMID 22198364] The association of inherited thrombophilia and intrauterine fetal death: a case-control study
[PMID 21913742] Genetic predictors of response to photodynamictherapy
[PMID 22421107] The G534E-polymorphism of the gene encoding the Factor VII-activating protease is a risk factor for venous thrombosis and recurrent events
[PMID 22675575] Caution in Interpreting Results from Imputation Analysis When Linkage Disequilibrium Extends over a Large Distance: A Case Study on Venous Thrombosis
[PMID 16846490] Lemierre's syndrome and genetic polymorphisms: a case report.
[PMID 17107626] Comparison of PrASE and Pyrosequencing for SNP Genotyping.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18752569] Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19538716] Thrombotic genetic risk factors and warfarin pharmacogenetic variants in Sao Miguel's healthy population (Azores).
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 19591822] Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services.
[PMID 20031567] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.
[PMID 20078877] Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.
[PMID 20352152] Association of common genetic variations and idiopathic venous thromboembolism. Results from EDITh, a hospital-based case-control study.
[PMID 21239755] Functional polymorphisms of the coagulation factor II gene (F2) and susceptibility to systemic lupus erythematosus.
[PMID 21422408] Clotting factor gene polymorphisms and colorectal cancer risk.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23132613] Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis
[PMID 24226152] Influence of single nucleotide polymorphisms on thrombin generation in factor V Leiden heterozygotes
[PMID 23533563] Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
[PMID 25028703] Maternal Genotype and Severe Preeclampsia: A HuGE Review
[PMID 25210051] Genetic Variations Associated with Recurrent Venous Thrombosis
|Disease||Thrombophilia Ischemic stroke Pregnancy loss Prothrombin deficiency|
|CLNDBN||Thrombophilia Ischemic stroke, susceptibility to Pregnancy loss, recurrent, susceptibility to, 2 Prothrombin deficiency, congenital|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000014237.19, RCV000014238.3, RCV000022729.3, RCV000205022.1,|
[PMID 25992517] Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy