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Identification of new regulatory mechanisms that determine coagulation FXI plasma concentration
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Biology Education Centre.
2015 (English)Independent thesis Advanced level (professional degree), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

FXI is a protein in the coagulation cascade in humans proven to be involved in the propagation and stabilization of developing thrombi in previous studies. The regulatory mechanisms for FXI are not well understood. Therefore an investigation to find regulatory mechanisms for FXI was performed. A meta-analysis was conducted, consisting of six Genome-wide association studies in which the trait was FXI levels in plasma. Three genome wide significant loci were found that also were significant in a replication study, in which three cohorts not included in the discovery set were used. Functional annotation, pathway analysis and eQTL analysis of these three loci yielded three genes believed potentially responsible for the regulation of FXI. Two of these three genes were chosen for a microRNA binding prediction search. Several microRNAs were found, and one was analyzed with a luciferase reporter assay

Place, publisher, year, edition, pages
UPTEC X, 15 027
Keyword [en]
FXI, F11, blood plasma, coagulation, GWAS, Meta-analysis, pathway analysis, eQTL, miRNA, luciferase reporter assay
National Category
Natural Sciences Medical and Health Sciences Biological Sciences Bioinformatics and Systems Biology Biochemistry and Molecular Biology
URN: urn:nbn:se:uu:diva-261267OAI: oai:DiVA.org:uu-261267DiVA: diva2:850103
Educational program
Molecular Biotechnology Engineering Programme
Available from: 2015-08-31 Created: 2015-08-31 Last updated: 2015-08-31Bibliographically approved

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The full text will be freely available from 2017-01-02 18:28
Available from 2017-01-02 18:28

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