What does this research mean for the field?

A G-to-A transition at position 20210 in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and a nearly threefold increased risk of venous thrombosis. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To evaluate the prothrombin gene for mutations in patients with familial venous thrombophilia and quantify its association with plasma prothrombin levels and venous thrombosis risk.

November 15, 1996BloodOpen Access

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis

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Authors

SPSR PoortLeiden University FRFR RosendaalLeiden University PRPH ReitsmaAmsterdam UMC Location University of Amsterdam

Discussion

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Implication

Case-control study reveals a prothrombin 3'-UTR mutation increases venous thrombosis risk and prothrombin levels, indicating a common genetic thrombophilia factor.

Key Points

To evaluate the prothrombin gene for mutations in patients with familial venous thrombophilia and quantify its association with plasma prothrombin levels and venous thrombosis risk.
Sequenced all exons, 5'-UTR, and 3'-UTR of the prothrombin gene via polymerase chain reaction and direct sequencing in 28 probands with familial thrombophilia and 100 healthy controls.
Assessed allele frequency, plasma prothrombin concentrations, and thrombosis risk in a population-based case-control study.
Identified a G-to-A transition at position 20210 in the 3'-UTR, present in 18% of probands compared with 1% of healthy controls.
The 20210 A allele showed a 1.2% population frequency (95% CI, 0.5% to 1.8%) and increased venous thrombosis risk nearly threefold (OR, 2.8; 95% CI, 1.4 to 5.6).
87% of individuals carrying the 20210 A allele had plasma prothrombin in the highest quartile (> 1.15 U/mL), which independently served as a thrombosis risk factor.

Cite This Study

Poort et al. (1996) studied this question.

synapsesocial.com/papers/6a0ea301e23c633afcf99a7c https://doi.org/10.1182/blood.v88.10.3698.bloodjournal88103698

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Implication

Case-control study reveals a prothrombin 3'-UTR mutation increases venous thrombosis risk and prothrombin levels, indicating a common genetic thrombophilia factor.

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis

Discussion

Member takes

Implication

Key Points

Cite This Study

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis

Discussion

Member takes

Implication

Key Points

Cite This Study

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