[Relationship of von Willebrand factor gene single-nucleotide polymorphism with thrombosis diseases].
Recently it has been discovered that not only von Willebrand factor (vWF) decrease results in von Willebrand disease, but also vWF increase can lead to several thrombosis diseases. Plasma vWF level is affected by genetic factors. Individuals with different single nucleotide polymorphism (SNP) genotype in vWF have different susceptibility to disease; individuals with different blood group have different plasma vWF level. Environment factors also affect plasma vWF level. Understanding relationship of polymorphisms in promoter, exon and intron with thrombosis diseases contribute to prevent and cure these diseases. In this review, the relationship of SNP in promoter, exon and intron of vWF gene with thrombosis diseases is summarized.
Yuan
Zhong-Hai
ZH
Department of Hematology, The First Hospital of Peking University, Beijing 100034, China.
Zhu
Ping
P
D005091:Exons; D005838:Genotype; D006801:Humans; D007438:Introns; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D013927:Thrombosis / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor