A genotyping method for VKORC1 1173C>T by Pyrosequencing® technology
2008 (English)In: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, Vol. 68, no 5, 427-430 p.Article in journal (Refereed) Published
Vitamin K epoxide reductase complex subunit 1 (VKORC1) is the site of inhibition by warfarin and other anti-vitamin K drugs during oral anticoagulant therapy. The SNP rs9934438 in intron 1 of VKORC1 (c.173+1000C>T or 1173C>T) discriminating the VKORC1*2 haplotype is associated with low warfarin dose requirement and unstable prothrombin time - international normalized ratio. To genotype this SNP, we have developed a rapid method using Pyrosequencing® technology. The proposed method takes a post-PCR sample preparation of less than 1 h and a DNA sequencing time of less than 15 min to genotype 96 samples. The current method was compared with a dHPLC method that we reported previously. Genotype frequencies at VKORC1 1173C>T for our Swedish population were 38 % wild-type, 40 % heterozygote and 22 % homozygote. The frequency of the T-allele was 0.42, which exactly matches the frequency previously reported for Germans. The current method can be used to determine whether patients initiating warfarin therapy are carriers of SNP 1173 C>T that is strongly associated with low warfarin dose requirement. © 2008 Informa UK Ltd (Informa Healthcare, Taylor & Francis AS).
Place, publisher, year, edition, pages
2008. Vol. 68, no 5, 427-430 p.
National CategoryMedical and Health Sciences
IdentifiersURN: urn:nbn:se:liu:diva-44244DOI: 10.1080/00365510701810621Local ID: 76107OAI: oai:DiVA.org:liu-44244DiVA: diva2:265106