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Genetic variants in von Willebrand factor and risk of venous thromboembolism
Sweden (IFMSA-Sweden) - Lunds Universitet, Lund
Center for Primary Health Care Research, Faculty of Medicine, Lund University
Prof. Jan Sundquist
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Venous thromboembolism (VTE) is a common cardiovascular disease that frequently recurs and is associated with significant numbers of deaths annually 1 . The risk of VTE recurrence is lifelong when it caused by a genetic defects. However, only part of the VTE genetics is known. Von Willebrand factor (VWF) is a carrier and protector of factor VIII, a main cofactor of the clotting pathway 2 . We have recently shown that higher levels of VWF are associated with primary deep vein thrombosis (DVT) 3 . However genetic defects in VWF gene and their associations with primary and recurrent VTE are not well defined.
What is the aim of the project?
To investigate the role of most important genetic variants in VWF and their role in primary and recurrent VTE
What techniques and methods are used?
First we will identify missense genetic variants in VWF gene found in general population with a minor allele frequency of ≥5% and later perform in silico tests by bioinformatics tools to identify potentially functional (damaging/deleterious) genetic variants. Later these genetic variants will be genotyped by TaqMan allele discrimination polymerase chain reaction (PCR) assays in healthy population (n=400) and 1465 primary VTE which were followed for 10 years and 154 patients had recurrence during the follow-up. Their role in primary and VTE recurrence will investigated in above populations by logistic regression and Cox regression analysis. Databases with all clinical information and DNA samples for genotyping are available.
What is the role of the student?
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
In this clinical project with lab work, student will learn how to identify genetic variants present in a gene and how to perform in silico tests to identify the most interesting genetic variants. Furthermore, student will also learn how to prepare sample and perform genotyping, how to read and extract the allele discrimination data. How to perform statistical analysis to achieve the aims described in this project. Finally, student will prepare a presentation to present his/her results.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Yes. Preliminary reading. Student will also participate in Lab meetings, scheduled once a week
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a presentation - The student will prepare a scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Basic medical knowledge of venous thromboembolism Basic knowledge of molecular biology and genetics knowledge will be an advantage
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months) - Students in biomedical fields
- 1) Sundquist K; Sundquist J; Svensson PJ; Zoller B and Memon AA. Role of family history of venous thromboembolism and thrombophilia as predictors of recurrence: a prospective follow-up study. J Thromb Haemost. 2015;13:2180-6.
- 2) Sundquist K; Wang X; Svensson PJ; Sundquist J; Hedelius A; Larsson Lonn S; Zoller B and Memon AA. Plasminogen activator inhibitor-1 4G/5G polymorphism; factor V Leiden; prothrombin mutations and the risk of VTE recurrence. Thromb Haemost. 2015;114:1156-64.
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