title: SNPs in ADAMTS13.
abstract: The multidomain metalloprotease ADAMTS13 limits thrombus formation via the cleavage of large multimeric forms of von Willebrand factor. Deficiency of functional ADAMTS13 is associated with a number of disease pathologies including thrombotic thrombocytopenic purpura, cardiovascular disease and inflammation. To date, deficiency is known to result from mutations in the ADAMTS13 gene or from inhibitory and non-neutralizing antibodies. The exact contributory effect of genetic variation in ADAMTS13 on observable pathology is unclear, and specifically, polymorphisms of ADAMTS13 have not been the focus of much systematic study. Here we have amassed an up-to-date collection of ADAMTS13 polymorphisms described in the literature and from the National Center for Biotechnology Information's SNP database. This article considers the effect that these polymorphisms may have on the expression and function of ADAMTS13 and speculates on their relevance in future therapies based on pharmacogenomics.
authors.affiliation: Laboratory of Hemostasis, Division of Hematology, Center for Biologics Evaluation & Research, US FDA, Bethesda, MD 20892, USA.
authors.forename: Sandra Chang
authors.initials: SC
authors.lastname: Tseng
authors.forename: Chava
authors.initials: C
authors.lastname: Kimchi-Sarfaty
mesh_terms: D051722:ADAM Proteins / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D000071120:ADAMTS13 Protein; D000818:Animals; D002318:Cardiovascular Diseases / Q000235:genetics; D005006:Ethnicity; D005787:Gene Frequency; D006801:Humans; D007438:Introns / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013045:Species Specificity; D014841:von Willebrand Factor / Q000378:metabolism
chemical_list: D014841:von Willebrand Factor; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human