Prothrombin Mutation Is not Associated with Thrombosis in Patients with Antiphospholipid Syndrome

Bertolaccini, María Laura; Atsumi, Tatsuya; Hunt, Beverley J.; Amengual, O; Khamashta, Munther A.; Hughes, G. R. V.

doi:10.1055/s-0037-1615166

Cited by 24 publications

(10 citation statements)

References 3 publications

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“…In this group of patients we had previously assessed the factor V Leiden mutation, which was found in one patient (5). Consonant with these findings, there is data that suggest that the thrombophilia of patients with primary APS is not related with the Go A mutation at nucleotide position 20210 in the 3'untranslated region of the prothrombin gene (37). weight marker (pUC-18 digested with Hpa II); P, patient sample; GA and GG, control DNAs heterozygous and homozygous normal, respectively.…”

Section: Discussionmentioning

confidence: 89%

The G20210A Polymorphism in the 3' -Untranslated Region of the Prothrombin Gene in Mexican Mestizo Patients with Primary Antiphospholipid Syndrome

Ruíz‐Argüelles

Garcés‐Eisele

Ruíz-Delgado

et al. 1999

Clin Appl Thromb Hemost

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In an effort to identify alleles associated with an increased risk of venous thrombosis in patients with primary antiphospholipid syndrome, we studied the G20210A polymorphism (the G-->A mutation at nucleotide position 20210) in the 3'-untranslated region of the prothrombin gene in a group of 14 patients with primary antiphospholipid syndrome. We did not find any patient with the mutated gene. Since the prothrombin mutation is more prevalent in white populations, this finding may be related with the genetic composition of the Mexican mestizos, in whom the white component is low. The polymorphism of the prothrombin gene in Mexican mestizo patients with antiphospholipid syndrome does not seem to be related to the thrombophilia observed in these patients.

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Section: Discussionmentioning

confidence: 89%

The G20210A Polymorphism in the 3' -Untranslated Region of the Prothrombin Gene in Mexican Mestizo Patients with Primary Antiphospholipid Syndrome

Ruíz‐Argüelles

Garcés‐Eisele

Ruíz-Delgado

et al. 1999

Clin Appl Thromb Hemost

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“…This polymorphism was found to be rare in patients with APS and several studies have not shown positive association between thrombosis in APS patients and this polymorphism [34][35][36].…”

Section: Additional Genetic Risk Factorsmentioning

confidence: 94%

Genetics of antiphospholipid syndrome

Horita

Merrill²

2004

Curr Rheumatol Rep

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Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent arterial or venous thrombosis or fetal loss and the presence of antiphospholipid antibodies (aPL). Genetic factors are thought to play a role in the susceptibility to APS. Similar to many other polygenic autoimmune diseases, human leukocyte antigen associations have been reported. The genetics of b(2)-glycoprotein I, one of the most representative target antigens of aPL, has been extensively studied. Additional genetic risk factors for the development of thrombosis in patients with aPL have also been discussed. However, the genes involved in APS have not been identified because antigen specificity of aPL and the pathophysiology of APS are highly heterogeneous and multifactorial. Genome-wide linkage analysis and larger cohort studies would lead to better understanding of the genes that might be involved in APS.

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“…The initial studies did not show an increased risk of thrombosis related to the G20210A polymorphism in the prothrombin gene in APS patients of Caucassian (Bentolila et al, 1997); (Bertolaccini et al, 1998) or Mexican mestizo origin (Ruiz-Arguelles et al, 1999). However, from the first case of SLE-associated APS in a young female homozygous for the 20210A allele in the prothrombin gene who developed venous thrombosis while taking oral contraceptives (Sivera et al, 2000), several subsequent studies have demonstrated an association between the prothrombin G20210A polymorphim and thrombosis in APS patients.…”

Section: Prothrombin Gene Mutation and Risk Of Thrombosismentioning

confidence: 99%