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Variation in the VWF Gene in Swedish Patients with Type 1 von Willebrand Disease.

Johansson, Anna M; Halldén, Christer LU ; Säll, Torbjörn and Lethagen, Stefan LU (2011) In Annals of Human Genetics 75. p.447-455
Abstract
The spectrum of mutations in the von Willebrand factor (VWF) gene in a Swedish type 1 von Willebrand disease (VWD) population was investigated. To gain more knowledge about the dynamics of VWD mutations, the data were analyzed from a population genetics perspective. The VWF gene was resequenced in 54 Swedish patients diagnosed with type 1 VWD. Fifty-five variable sites were located in exons, 10 in the promoter and 38 in introns. The spectrum of mutations was similar to a European study, but included 10 new candidate mutations. The synonymous sites were evenly distributed along the coding sequence, whereas nonsynonymous sites were located into three clusters. Overall, 44% of patients had no mutations or candidate mutations and no promoter... (More)
The spectrum of mutations in the von Willebrand factor (VWF) gene in a Swedish type 1 von Willebrand disease (VWD) population was investigated. To gain more knowledge about the dynamics of VWD mutations, the data were analyzed from a population genetics perspective. The VWF gene was resequenced in 54 Swedish patients diagnosed with type 1 VWD. Fifty-five variable sites were located in exons, 10 in the promoter and 38 in introns. The spectrum of mutations was similar to a European study, but included 10 new candidate mutations. The synonymous sites were evenly distributed along the coding sequence, whereas nonsynonymous sites were located into three clusters. Overall, 44% of patients had no mutations or candidate mutations and no promoter haplotype was significantly associated with disease. In 11 patients (20%), more than one mutation or candidate mutation was detected. The allelic identity for the putative disease-causing mutations was approximately 0.1, compatible with an overall disease frequency of 1%. VWF sequences for exon 28 from eight monkey species were compared with the variable positions found in our patients. Positions classified as mutations were overrepresented among sites that were fixed in all eight monkey species. No general increase of the mutation rate was found for the pseudogene region. (Less)
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publication status
published
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in
Annals of Human Genetics
volume
75
pages
447 - 455
publisher
Wiley-Blackwell
external identifiers
  • wos:000292360800001
  • pmid:21534937
  • scopus:79958807234
ISSN
1469-1809
DOI
10.1111/j.1469-1809.2011.00652.x
language
English
LU publication?
yes
id
4fb77848-981d-4ef1-8e20-a7a6705b8913 (old id 1973285)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21534937?dopt=Abstract
date added to LUP
2011-06-07 09:57:00
date last changed
2017-10-22 04:54:15
@article{4fb77848-981d-4ef1-8e20-a7a6705b8913,
  abstract     = {The spectrum of mutations in the von Willebrand factor (VWF) gene in a Swedish type 1 von Willebrand disease (VWD) population was investigated. To gain more knowledge about the dynamics of VWD mutations, the data were analyzed from a population genetics perspective. The VWF gene was resequenced in 54 Swedish patients diagnosed with type 1 VWD. Fifty-five variable sites were located in exons, 10 in the promoter and 38 in introns. The spectrum of mutations was similar to a European study, but included 10 new candidate mutations. The synonymous sites were evenly distributed along the coding sequence, whereas nonsynonymous sites were located into three clusters. Overall, 44% of patients had no mutations or candidate mutations and no promoter haplotype was significantly associated with disease. In 11 patients (20%), more than one mutation or candidate mutation was detected. The allelic identity for the putative disease-causing mutations was approximately 0.1, compatible with an overall disease frequency of 1%. VWF sequences for exon 28 from eight monkey species were compared with the variable positions found in our patients. Positions classified as mutations were overrepresented among sites that were fixed in all eight monkey species. No general increase of the mutation rate was found for the pseudogene region.},
  author       = {Johansson, Anna M and Halldén, Christer and Säll, Torbjörn and Lethagen, Stefan},
  issn         = {1469-1809},
  language     = {eng},
  pages        = {447--455},
  publisher    = {Wiley-Blackwell},
  series       = {Annals of Human Genetics},
  title        = {Variation in the VWF Gene in Swedish Patients with Type 1 von Willebrand Disease.},
  url          = {http://dx.doi.org/10.1111/j.1469-1809.2011.00652.x},
  volume       = {75},
  year         = {2011},
}