Determining Genetic Variants Modifying the Activity of the Beta Interferon Signaling Pathway
Name
Ralf Tambets
Abstract
Interferon beta is a biomolecule integral to the inflammatory response of the human organism. It is known to be a part of a wide anti-inflammatory gene network, the mechanism of action of which is not yet entirely known. The aim of this thesis was to use the data regarding four human populations for genomewide association studies in order to determine previously unknown genetic variants that play a part in interferon beta’s signaling pathway. To achieve this, variants in the IFNB1 locus, which codes for interferon beta, were treated as trans-eQTLs and the gene most strongly associated with them was found. By using that gene as a marker gene for the beta interferon signaling pathway, additional transeQTLs modifying the activity of the beta interferon signaling pathway were sought for. The association between the IFNB1 locus and the IFI6 gene was replicated in the Fairfax_2014 dataset, where it was first discovered, and in three other populations. Due to a relatively low sample size (n=685), no novel associations were found.
Graduation Thesis language
Estonian
Graduation Thesis type
Bachelor - Computer Science
Supervisor(s)
Kaur Alasoo
Defence year
2021