Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs1799810

Hard Link
rs1799810 is a snp on gene PROC (protein C (inactivator of coagulation factors Va and VIIIa))

GenePROC Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation A>T Clinical significance Orientation (dbSNP) - (negative/reverse strand)
Gene Function
The protein C pathways are the specific chemical reactions that control the level of expression of APC and its activity in the body.[4]:34 Protein C is pleiotropic, with two main classes of functions: anticoagulation and cytoprotection (its direct effect on cells). Which function protein C performs depends on whether or not APC remains bound to EPCR after it is activated; the anticoagulative effects of APC occur when it does not. In this case, protein C functions as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa, turning them into Factor Vi and Factor VIIIi respectively. When still bound to EPCR, activated protein C performs its cytoprotective effects, acting on the effector substrate PAR-1, protease-activated receptor-1. To a degree, APC's anticoagulant properties are independent of its cytoprotective ones, in that expression of one pathway is not affected by the existence of the other.[6]:3162[28]:26S The activity of protein C may be down-regulated by reducing the amount either of available thrombomodulin or of EPCR. This may be done by inflammatory cytokines, such as interleukin-1β (IL-1β ) and tumor necrosis factor-α (TNF-α). Activated leukocytes release these inflammatory mediators during inflammation, inhibiting the creation of both thrombomodulin and EPCR, and inducing their shedding from the endothelial surface. Both of these actions down-regulate protein C activation. Thrombin itself may also have an effect on the levels of EPCR. In addition, proteins released from cells can impede protein C activation, for example eosinophil, which may explain thrombosis in hypereosinophilic heart disease.β[›] Protein C may be up-regulated by platelet factor 4. This cytokine is conjectured to improve activation of protein C by forming an electrostatic bridge from protein C's Gla domain to the glycosaminoglycan (GAG) domain of thrombomodulin, reducing the Michaelis constant (KM) for their reaction.[12]:2386[28]:29S In addition, Protein C is inhibited by protein C inhibitor.[29]:369 [1] PMID 9003757 [4] PMID 15199491 [5] PMID 2991887 [6] PMID 17110453 [12] PMID 16720321 [28] PMID 12970121 [29] PMID 2551064 [PMID: 17677000] In a physiological clotting cascade, binding of thrombin to its receptor, thrombomodulin (THBD), activates protein C (PROC). Activated protein C cleaves coagulation factor V (F5) [6], leading to fibrinolysis. Genetic variation in the cascade genes predisposes to increased clotting, the best known example being activated protein C resistance caused by the factor V Leiden mutation [7]. Several case reports describe PROC deficiency in patients with arterial thrombosis [8,9]. Activated protein C may also play a neuroprotective role in ischemic stroke [10,11]. THBD and intercellular adhesion molecule 1 (ICAM1) are markers for endothelial activation and damage [12]. Low concentrations of soluble THBD, especially when present along with elevated soluble ICAM1, predispose to cardiovascular disease (CVD) events [13,14]. Whether THBD gene variants act as independent CVD risk factors remains unclear [15].  Several CVD risk variants were identified: In women, the combination of F5 rs7542281 x THBD rs1042580, together with three single F5 SNPs, was associated with CVD events. Among men, PROC rs1041296, when combined with either ICAM1 rs5030341 or F5 rs2269648, was associated with total mortality. As a single variant, PROC rs1401296, together with the F5 Leiden mutation, was associated with ischemic stroke events. Our strategy to combine the classification-tree analysis with more traditional genetic models was successful in identifying SNPs-acting either in combination or as single variants--predisposing to CVD, and produced consistent results in two independent cohorts. These results suggest that variants in these four thrombosis genes contribute to arterial cardiovascular events at population level.
GWAS Pathologies
Self-rated health (T)
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

CURATED





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