Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD
| Autor: | Sandra L. Haberichter, Robert R. Montgomery, Caroline E Kochelek, Jill M. Johnsen, Rupa A Udani, Kenneth D. Friedman, Pamela A. Christopherson, Tricia L Slobodianuk, Daniel B. Bellissimo, Veronica H. Flood |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Linkage disequilibrium medicine.medical_specialty von Willebrand factor 030204 cardiovascular system & hematology 03 medical and health sciences 0302 clinical medicine Von Willebrand factor Antigen hemic and lymphatic diseases Internal medicine Healthy control Von Willebrand disease medicine genetics Protein precursor Original Articles: Haemostasis biology business.industry Hematology medicine.disease 030104 developmental biology Endocrinology factor VIII Hemostasis Healthy individuals hemostasis cardiovascular system biology.protein Original Article von Willebrand disease business circulatory and respiratory physiology |
| Zdroj: | Research and Practice in Thrombosis and Haemostasis |
| ISSN: | 2475-0379 |
| Popis: | Essentials Specific sequence variants in the VWF D′D3 region are associated with elevated VWF antigen levels.VWF levels and variant frequencies were examined in both European and Caucasian Americans.Subjects homozygous for D′D3 variants had the highest VWF and factor VIII levels.D′D3 variants are less frequent in type 1 VWD, suggesting a potential protective effect. Background Genetic variation in the VWF gene is associated with von Willebrand factor (VWF) and factor VIII (FVIII) levels in healthy individuals. Objectives We hypothesized that VWF sequence variants associated with higher VWF or FVIII could impact the diagnosis of type 1 von Willebrand disease (VWD). Methods We examined VWF antigen (VWF:Ag), VWF ristocetin cofactor activity (VWF:RCo), VWF propeptide (VWFpp), and FVIII levels along with VWF gene sequencing in 256 healthy control and 97 type 1 VWD subjects as part of a cross‐sectional study. Results We found several VWF sequence variants (VWF c.2880G>A and VWF c.2365A>G(;)c.2385T>C, found in linkage disequilibrium) associated with higher VWF and FVIII levels in healthy controls (P A and c.2365A>G(;)c.2385T>C on VWF levels. |
| Databáze: | OpenAIRE |
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