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Updated: May 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

SNPs in ADAMTS13.

Sandra Chang Tseng¹, Chava Kimchi-Sarfaty

¹Laboratory of Hemostasis, Division of Hematology, Center for Biologics Evaluation & Research, US FDA, Bethesda, MD 20892, USA.

Pharmacogenomics

|August 17, 2011

Summary

This summary is machine-generated.

Genetic variations in ADAMTS13, a key enzyme regulating blood clots, are not well understood. This study compiles ADAMTS13 polymorphisms to explore their impact on enzyme function and potential therapeutic applications.

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

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Published on: January 9, 2020

Area of Science:

Biochemistry
Genetics
Hematology

Background:

ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13) regulates thrombus formation by cleaving von Willebrand factor.
Deficiency in ADAMTS13 activity is linked to thrombotic thrombocytopenic purpura, cardiovascular disease, and inflammation.
Known causes of deficiency include gene mutations and autoantibodies, but the role of genetic variation remains unclear.

Purpose of the Study:

To systematically collect and review known ADAMTS13 polymorphisms.
To analyze the potential impact of these polymorphisms on ADAMTS13 expression and function.
To explore the relevance of ADAMTS13 genetic variations in pharmacogenomics and future therapies.

Main Methods:

Literature review for ADAMTS13 polymorphisms.
Inclusion of data from the National Center for Biotechnology Information's SNP database.
Analysis of reported effects of polymorphisms on ADAMTS13 activity and expression.

Main Results:

Compilation of an up-to-date collection of ADAMTS13 polymorphisms.
Identification of potential functional consequences of genetic variations.
Discussion of the implications for understanding disease pathologies.

Conclusions:

ADAMTS13 polymorphisms represent a significant area for further research in hematology and thrombosis.
Understanding these variations may lead to personalized medicine approaches for ADAMTS13-related disorders.
Pharmacogenomic insights from ADAMTS13 variations could guide future therapeutic strategies.