|(A;A)||7||6.74x risk of thrombosis; 2-20x risk for cerebral stroke if PFO+|
|(A;G)||2.8||2.8x risk of thrombosis; higher risk for cerebral stroke if PFO+|
|(G;G)||0||normal/common risk of thrombosis|
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.
[PMID 23900608]In a 2013 meta-analysis of 31 databases, the analysis of i3002432 / rs1799963 (PT20210A or prothrombin or Factor 2) was based on 9,134 cases and 17,606 controls. The AG variant average risk for Venous Thromboembolism was 2.8, and risk was higher for younger subjects ((< 45 years old, OR: 3.19; ≥ 45 years old, OR: 2.57) and for women taking oral contraceptives (women not using OCs, OR: 2.73; women using OCs, OR: 5.58). Further analysis by outcome revealed that more the risk for Cerebral venous sinus thrombosis was highest at 4.4 (based on 303 cases and 2,723 controls), whereas for Venous thromboembolism OR was 3.0, and for Venous thrombosis (w/o pulmonary embolism) OR 2.6. The AA variant risk was 6.74, but the odds ratio for homozygotes was based on only 28 subjects among cases and 4 controls. A larger risk was seen in rs6025 Factor V Leiden SNP variants.
For a more complete discussion, see rs6025.
[PMID 19404532],[PMID 22784820] 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), or hole in the heart. It is estimated that PFO is present in ~25% of the (normal/healthy) population.
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[PMID 21913742] Genetic predictors of response to photodynamictherapy
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[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, RCV000205022.2,|
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