ABO Blood Group and von Willebrand Factor Levels Partially Explained the Incomplete Penetrance of Congenital Thrombophilia

Cohen, William; Castelli, Christel; Alessi, Marie‐Christine; Aillaud, Marie-Françoise; Bouvet, Sophie; Brunet, D.; Barthet, Marie-Christine; Trégouët, David‐Alexandre; Lavigne, Géraldine; Morange, Pierre‐Emmanuel

doi:10.1161/atvbaha.112.248161

Cited by 18 publications

(22 citation statements)

References 30 publications

(43 reference statements)

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“…We thus evaluated the impact of weak and common SNPs on the risk of VT within these families. We have recently demonstrated the contribution of ABO blood group in this cohort [6]. In the present study, two SNPs located in the F11 gene and one in the FGG gene were also found to be associated with the risk of VT. F11 gene polymorphisms are associated with changes in FXI plasma levels.…”

Section: Discussionsupporting

confidence: 68%

Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles‐NImes prediction model

Cohen

Castelli

Suchon

et al. 2014

Journal of Thrombosis and Haemostasis

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Summary. Background: Although predicting the risk of venous thrombosis (VT) in an individual from a family with inherited thrombophilia is of major importance, it is often not feasible. Objectives: To develop a simple risk assessment model that improves prediction of the risk of VT for individuals of families with inherited thrombophilia. Patients/methods: 1201 relatives from 430 families with inherited thrombophilia (deficiencies of antithrombin, protein C or protein S, and the factor V Leiden and F2 20210A mutations) were recruited at the referral center for thrombophilia in Marseilles, France, from 1986 to 2008. One hundred and twenty-two individuals had a personal history of VT. Sixteen preselected clinical and laboratory variables were used to derive the VT risk score. Results: The scores based on the 16 variables and on the five most strongly associated variables performed similarly (areas under receiver operating characteristic curves of 0.85 and 0.83, respectively). For the five-variable score, named the MARNI score, derived from family history score of VT, von Willebrand factor antigen levels, age, severity of thrombophilia, and FGG rs2066865, the risk of VT ranged from 0.2% for individuals with a score of 0 (n = 186) to > 70% for individuals with a score of ≥ 7 (n = 27). The model was validated with an internal bootstrap method. Conclusions: With the use of a simple scoring system, assessment of the risk of VT in subjects from families with inherited thrombophilia can be greatly improved. External validation is now needed to replicate these findings.

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Section: Discussionsupporting

confidence: 68%

Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles‐NImes prediction model

Cohen

Castelli

Suchon

et al. 2014

Journal of Thrombosis and Haemostasis

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“…Cancer and non-O blood group have associated with increased risk of thrombosis (Wu et al, 2008;Cohen et al, 2012). Furthermore, recent studies have reported an association between ABO blood group and the risk of various epithelial cancers.…”

Section: Discussionmentioning

confidence: 99%

Association of ABO Blood Group and Risk of Lung Cancer in a Multicenter Study in Turkey

Ürün

Utkan²,

Cangır³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Background: The ABO blood groups and Rh factor may affect the risk of lung cancer. Materials and Methods: We analyzed 2,044 lung cancer patients with serologically confirmed ABO/Rh blood group. A group of 3,022,883 healthy blood donors of Turkish Red Crescent was identified as a control group. We compared the distributions of ABO/Rh blood group between them. Results: The median age was 62 years (range: 17-90). There was a clear male predominance (84% vs. 16%). Overall distributions of ABO blood groups were significantly different between patients and controls (p=0.01). There were also significant differences between patients and controls with respect to Rh positive vs. Rh negative (p=0.04) and O vs. non-O (p=0.002). There were no statistically significant differences of blood groups with respect to sex, age, or histology. Conclusions: In the study population, ABO blood types were associated with the lung cancer. Having non-O blood type and Rh-negative feature increased the risk of lung cancer. However, further prospective studies are necessary to define the mechanisms by which ABO blood type may influence the lung cancer risk.

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“…It is assumed that an ABO blood group could contribute to thrombosis risk through modifications of von Willebrand factor (VWF) and factor VIII (FVIII) levels in plasma (40,41). On the other hand, several studies have revealed that ABO blood groups remain significantly associated with elevated prothrombotic risk, even after adjustment for FVIII or VWF levels (41,42). Elevated plasma levels of FVIII and VWF are also established risk factors for DVT (43).…”

Section: Other Genetic Risk Factorsmentioning

confidence: 99%

Molecular Basis of Thrombophilia / MOLEKULARNE OSNOVE TROMBOFILIJE

Đorđević¹

2014

Journal of Medical Biochemistry

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SummaryThrombophilia is a multifactorial disorder, involving both genetic and acquired risk factors that affect the balance between procoagulant and anticoagulant factors and lead to increased thrombotic tendency. The severe forms of thrombophilia are caused by a deficiency of natural anticoagulants: antithrombin, protein C and protein S. The advances in DNA technology played an important role in the identification of the exact nature of these deficiencies and opened up new possibilities in genetic research and molecular diagnostics of thrombophilia. The major breakthrough came with the discovery of activated protein C resistance and the Factor V Leiden gene mutation. Shortly afterwards, a variant in the 3' untranslated region of the Factor II gene (FII G20210A) associated with an increased concentration of Factor II in plasma was described. These two gene variants represent the most common thrombophilic genetic risk factors. Recently, a novel prothrombin mutation (c.1787G>T) was identified in a Japanese family with juvenile thrombosis. This mutation leads to impaired inhibition of mutant thrombin by antithrombin, proposing a new mechanism of thrombophilia named resistance to antithrombin. In the last decade, se veral prothrombotic genetic risk factors have been described, including gene variants associated with defects of natural coagulation inhibitors, increased levels of coagulation factors or their impaired inhibition and defects of the fibrinolytic system. However, most of them are not of diagnostic value, due to their minor or unknown impact on the thrombotic risk. Large-scale DNA analysis systems are now becoming available, opening a new era in the genetic studies of the molecular basis of thrombophilia. Keywords: thrombophilia, genetic risk factors, gene variants Kratak sadr`ajTrombofilija nastaje kao rezultat kompleksne interakcije izme|u negeneti~kih i geneti~kih faktora rizika koji hemostaznu ravnote`u pomeraju u smeru hiperkoagulacije i dovode do pojave tromboze. Veoma zna~ajan faktor rizika za nastanak trombofilije je deficijencija inhibitora koagulacije: antitrombina, proteina C ili proteina S. Veliki korak u razu mevanju geneti~ke osnove i molekularne dijagnostike trombofilije napravljen je otkri}em rezistencije na aktivirani protein C i faktor V Leiden mutacije. Ubrzo je otkrivena i varijanta u 3'-nekodiraju}em regionu gena za faktor II (FII G20210A), za koju je pokazano da dovodi do povi{ene koncentracije protrombina u plazmi. Ove dve genske varijante su naju~estaliji geneti~ki faktori rizika za nastanak trombofilije. Nedavno je opisana nova mutacija u genu za protrombin (c.1787G >T) za koju je pokazano da dovodi do rezistencije na anti trombin, odnosno do smanjene mogu}nosti inaktivacije mu tira nog trombina od strane antitrombina, {to predstavlja novi mehanizam za nastanak trombofilije. U toku poslednjih decenija, opisan je veliki broj geneti~kih faktora rizika za nastanak trombofilije, uklju~uju}i one koji dovode do: nedos tatka inhibitora koagulacije, pove}anog nivoa ili smanjene inaktivacij...

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ABO Blood Group and von Willebrand Factor Levels Partially Explained the Incomplete Penetrance of Congenital Thrombophilia

Cited by 18 publications

References 30 publications

Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles‐NImes prediction model

Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles‐NImes prediction model

Association of ABO Blood Group and Risk of Lung Cancer in a Multicenter Study in Turkey

Molecular Basis of Thrombophilia / MOLEKULARNE OSNOVE TROMBOFILIJE

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