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Genetic variation in the von Willebrand factor gene in Swedish von Willebrand disease patients
Kristianstad University, Plattformen för molekylär analys. Kristianstad University, Faculty of Natural Science, Avdelningen för miljö- och biovetenskap.
Kristianstad University, Forskningsmiljön Biomedicin. Kristianstad University, Faculty of Natural Science, Avdelningen för miljö- och biovetenskap.
Danmark.
Kristianstad University, Forskningsmiljön Biomedicin. Kristianstad University, Faculty of Natural Science, Avdelningen för miljö- och biovetenskap.ORCID iD: 0000-0002-9355-3901
2018 (English)In: TH Open, ISSN 2512-9465, Vol. 2, no 1, p. 39-48Article in journal (Refereed) Published
Abstract [en]

von Willebrand factor (VWF) level and function are influenced by genetic variation in VWF and several other genes in von Willebrand disease type 1 (VWD1) patients. This study comprehensively screened for VWF variants and investigated the presence of ABO genotypes and common and rare VWF variants in Swedish VWD1 patients. The VWF gene was resequenced using Ion Torrent and Sanger sequencing in 126 index cases historically diagnosed with VWD. Exon 7 of the ABO gene was resequenced using Sanger sequencing. Multiplex ligation-dependent probe amplification analysis was used to investigate for copy number variants. Genotyping of 98 single nucleotide variants allowed allele frequency comparisons with public databases. Seven VWD2 mutations and 36 candidate VWD1 mutations (5 deletions, 4 nonsense, 21 missense, 1 splice, and 5 synonymous mutations) were identified. Nine mutations were found in more than one family and nine VWD1 index cases carried more than one candidate mutation. The T-allele of rs1063857 (c.2385T > C, p.Y795 = ) and blood group O were both frequent findings and contributed to disease in the Swedish VWD1 population. VWD2 mutations were found in 20 and candidate VWD1 mutations in 51 index cases out of 106 (48%). VWF mutations, a VWF haplotype, and blood group O all contributed to explain disease in Swedish VWD1 patients.

Place, publisher, year, edition, pages
2018. Vol. 2, no 1, p. 39-48
Keywords [en]
DNA - molecular - diagnosis - Sweden - von Willebrand disease - von Willebrand factor
National Category
Natural Sciences
Identifiers
URN: urn:nbn:se:hkr:diva-17851DOI: 10.1055/s-0037-1618571OAI: oai:DiVA.org:hkr-17851DiVA, id: diva2:1180441
Available from: 2018-02-05 Created: 2018-02-05 Last updated: 2019-07-03

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Lind-Halldén, Christina

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Manderstedt, EricLind-Halldén, ChristinaHalldén, Christer
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Plattformen för molekylär analysAvdelningen för miljö- och biovetenskapForskningsmiljön Biomedicin
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CiteExportLink to record
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