Changes of Von Willebrand factor concentration during pregnancy

Ewodo, Symphorien; Nguefack, Charlotte Tchente; Adiogo, Dieudonné; Etong, Ebolo Marcelle Rosie; Béyiha, G; Belley, Priso Eugène

doi:10.1684/abc.2014.0956

Cited by 2 publications

(2 citation statements)

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“…Some of these, such as vWA, FGA, and TPOX, have been associated with thrombotic events. Von Willebrand factor (vWF) is a glycoprotein produced by vascular endothelium and platelet [9]. As well, vWF is essential for haemostasis and promotes thrombosis by platelet adhesion and aggregation and clinically acts as a biomarker of CVD [10].…”

Section: Introductionmentioning

confidence: 99%

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

Meraz-Ríos

Majluf‐Cruz

Santana

et al. 2014

BioMed Research International

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Objective. Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxidase microsatellites to identify possible diagnostic markers. Methods. Genotypes were obtained from 177 patients with VTE and 531 nonrelated individuals using validated genotyping methods. The allelic frequencies were compared; Bayesian methods were used to correct population stratification to avoid spurious associations. Results. The vWA-18, TPOX-9, and TPOX-12 alleles were significantly associated with VTE. Moreover, subjects bearing the combination vWA-18/TPOX-12 loci exhibited doubled risk for VTE (95% CI = 1.02–3.64), whereas the combination vWA-18/TPOX-9 showed an OR = 10 (95% CI = 4.93–21.49). Conclusions. The vWA and TPOX microsatellites are good candidate biomarkers in venous thromboembolism diseases and could help to elucidate their origins. Additionally, these polymorphisms could become useful markers for genetic studies of VTE in the Mexican population; however, further studies should be done owing that this data only show preliminary evidence.

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Section: Introductionmentioning

confidence: 99%

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

Meraz-Ríos

Majluf‐Cruz

Santana

et al. 2014

BioMed Research International

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“…Trp387Ser and p.Arg1060Trp variations is quite similar to that of the homozygous state of p.Arg1060Trp variant seen in patient V. The residual activity of ADAMTS13 that persists in a presence of variants combination (p.Trp387Ser and p.Arg1060Trp), is sufficient to prevent TTP from manifesting at an early age. Triggering events are required for the onset of the disease and pregnancy may be one of them because during pregnancy the level of von Willebrand factor significantly increases [18][19][20] and the trace activity of ADAMTS13 is insufficient for its effective hydrolysis. ADAMTS13 activity was measured in plasma samples with enzyme-linked immunosorbent assay (ELISA) using Technozym ADAMTS-13 kits (Technoclone) in accordance with the manufacturer's recommendation.…”

Section: Resultsmentioning

confidence: 99%

New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report

Pozdnyakova

Pshenichnikova

Surin

et al. 2022

Clin Exp Pharma Physio

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Upshaw-Schulman syndrome (USS)-rare autosomal recessive disease that affects <1/1 000 000 individuals. It is characterized by the massive formation of platelet thrombi in the microcirculation accompanied by haemolytic anaemia, thrombocytopenia and clinical and laboratory signs of renal and neurological failure. USS is caused by mutations in the ADAMTS13 gene. Mutations in the ADAM metallopeptidase with thrombospondin type 1 motif 13 (ADAMTS13) gene can lead to disruption of secretion of this enzyme, or to decrease of enzyme proteinase activity without effect on ADAMTS13 secretion. The aim of this work is to describe a clinical case of USS caused by a new missense mutation in the ADAMTS13 gene. The diagnosis of thrombotic thrombocytopenic purpura was based on clinical signs and confirmed if plasma ADAMTS13 activity was <10%. ADAMTS13 gene sequencing was performed by the Sanger method using oligonucleotide primers of our own design. We found a new, undescribed mutation p.Trp387Ser in a TrpXXTrp motif. Previously, a pathogenic variation disrupting the 387TrpSerSerTrp390 motif of the ADAMTS13 protein was detected only once. Clinical picture of a patient with the combination of the p. Trp387Ser and p.Arg1060Trp variations is quite similar to that of the homozygous state of p.Arg1060Trp variant.

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Changes of Von Willebrand factor concentration during pregnancy

Cited by 2 publications

References 1 publication

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report

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