Prothrombin A19911G polymorphism and the risk of venous thromboembolism

Martinelli, Ida; Battaglioli, Tullia; Tosetto, Alberto; Legnani, Cristina; Sottile, L.; Ghiotto, R.; Mannucci, Pier Mannuccio

doi:10.1111/j.1538-7836.2006.02216.x

Cited by 29 publications

(22 citation statements)

References 18 publications

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“…22 Conversely, the association of the common rs13136516 with VT risk remains questionable. It has been observed in 2 case-control studies 23,24 but was not detected in recent genome-wide association studies (GWAS). [25][26][27][28][29] Preliminary works also suggested that the rs3136516-G allele could associate with increased risk of systemic lupus erythematous (SLE).…”

Section: Introductionmentioning

confidence: 97%

A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential

Rocañín-Arjó

Cohen

Carcaillon

et al. 2014

Blood

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Key Points• Genetic variations at the ORM1 locus and concentrations of the encoded protein associate with thrombin generation.• These findings may guide the development of novel antithrombotic treatments.Thrombin, the major enzyme of the hemostatic system, is involved in biological processes associated with several human diseases. The capacity of a given individual to generate thrombin, called the thrombin generation potential (TGP), can be robustly measured in plasma and was shown to associate with thrombotic disorders. To investigate the genetic architecture underlying the interindividual TGP variability, we conducted a genome-wide association study in 2 discovery samples (N 5 1967) phenotyped for 3 TGP biomarkers, the endogenous thrombin potential, the peak height, and the lag time, and replicated the main findings in 2 independent studies (N 5 1254). We identified the ORM1 gene, coding for orosomucoid, as a novel locus associated with lag time variability, reflecting the initiation process of thrombin generation with a combined P value of P 5 7.1 3 10 215 for the lead single nucleotide polymorphism (SNP) (rs150611042). This SNP was also observed to associate with ORM1 expression in monocytes (P 5 8.7 3 10 210 ) and macrophages (P 5 3.2 3 10 23 ). In vitro functional experiments further demonstrated that supplementing normal plasma with increasing orosomucoid concentrations was associated with impaired thrombin generation. These results pave the way for novel mechanistic pathways and therapeutic perspectives in the etiology of thrombin-related disorders. (Blood. 2014;123(5):777-785)

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Section: Introductionmentioning

confidence: 97%

A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential

Rocañín-Arjó

Cohen

Carcaillon

et al. 2014

Blood

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“…Von Ahsen et al [13] suggested that this polymorphism slightly increased the risk of VTE in carriers of the G20210A genotype, while Pérez-Ceballos et al [14] concluded that it increased the risk of VTE in carriers of Factor V Leiden as well as in those without thrombophilia in their study. …”

Section: Discussionmentioning

confidence: 97%

C20209T prothrombin gene mutation associated deep venous thrombosis in a hemodialysis patient

Bani-Hani

Siddiqui

Patel

et al. 2014

CNCS

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Venous thromboembolism (VTE) represents the formation of a blood clot in one of the deep veins of human body. The significant morbidity and mortality rates associated with VTE have spurred increasing investigations seeking to identify causative factors for this complex condition. While the most frequent causes of an inherited hypercoagulable state are the Factor V Leiden mutation and the prothrombin gene mutation, polymerase chain reaction (PCR) analysis has helped to identify other rare causes of inherited VTE. We report a case of a recurrent deep venous thrombosis in an end-stage renal disease patient. All laboratory tests for hypercoagulable states were normal. However, PCR analysis detected a rare polymorphism of prothrombin gene mutation at position C20209T, instead of G20210A. The patient was treated successfully with a high dose of warfarin to maintain adequate anti-coagulation during the 2-year follow-up.

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“…Several studies 5,12,13,14 have investigated the frequency of the FII A19911G variant in various populations; however, to date, the population from geographic area of Serbia has not been investigated, to our knowledge. Our results show that the FII A19911G variant does not represent a significant risk factor for the occurrence of DVT in the Serbian population.…”

Section: Discussionmentioning

confidence: 99%

The 3′End Prothrombin Gene Variants in Patients With Different Thrombotic Events

Djordjević

Pruner

Tomic

et al. 2014

Lab Med

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Prothrombin A19911G polymorphism and the risk of venous thromboembolism

Cited by 29 publications

References 18 publications

A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential

A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential

C20209T prothrombin gene mutation associated deep venous thrombosis in a hemodialysis patient

The 3′End Prothrombin Gene Variants in Patients With Different Thrombotic Events

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