A single nucleotide polymorphism at nucleotide −1793 in the von Willebrand factor (VWF) regulatory region is associated with plasma VWF:Ag levels
| Autor: | Cherie Cameron, David Lillicrap, Philip J. Harvey, Y. Miu Lam, Angela M. Keightley |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Genetics
chemistry.chemical_classification Linkage disequilibrium biology Single-nucleotide polymorphism Hematology Molecular biology chemistry Von Willebrand factor hemic and lymphatic diseases Gene expression biology.protein SNP Nuclear protein Glycoprotein Transcription factor circulatory and respiratory physiology |
| Zdroj: | British Journal of Haematology. 109:349-353 |
| ISSN: | 0007-1048 |
| DOI: | 10.1046/j.1365-2141.2000.02000.x |
| Popis: | von Willebrand Factor (VWF) is a large multimeric glycoprotein involved in the transport and protection of factor VIII and in mediating platelet–subendothelium and platelet–platelet interactions. We have documented the presence of a single nucleotide polymorphism (SNP) at nucleotide (nt) −1793 (G 0·36 or C 0·64) in the VWF 5′-flanking sequence. This polymorphism is in strong linkage disequilibrium with the previously reported SNPs at nts −1234, −1185 and −1051 and, like this other group of polymorphisms, shows a significant association with plasma VWF levels. This association is more marked in subjects who are more than 40 years of age. Further, circumstantial evidence to support a role for the −1793 sequence in regulating VWF expression comes from our demonstration of differential binding of endothelial cell nuclear proteins, including the transcription factor NFκB, by this sequence. In summary, the association of the −1793 SNP with plasma VWF levels provides additional evidence for the role of the VWF regulatory region between nts −1793 and −1051 in controlling VWF expression. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text