Identifying Genes Associated With Atopic Dermatitis Using Genetic Colocalisation
Name
Peep Kolberg
Abstract
Atopic dermatitis is a multifactorial inflammatory skin disease with a strong genetic component. The disease is characterized by abnormalities in skin cells, the skin microbiome and the activity of the immune system. However, it is not fully understood how these disease-related changes are associated with genetic variation. Genome studies associate genetic variants with phenotypes. By combining datasets from GWAS and eQTL studies, it is possible to identify variants that are associated with the disease and also alter gene expression. The affected genes likely act in the development of atopic dermatitis and studying their signaling pathways helps elucidate the molecular mechanisms of the disease. In this thesis, datasets from two GWAS and 112 eQTL studies were colocalised.
148 genes were associated with the disease, from which expression data of genes in the interleukin-1 cytokine family were examined in more detail. The genes IL1RL1, IL18, IL18R1, IL18RAP were identified in multiple immune-system related cell types. The results suggest that proteins of the interleukin-1 family affect the development of atopic dermatitis. The results are the basis for further research into the contribution of specific genes in the disease.
148 genes were associated with the disease, from which expression data of genes in the interleukin-1 cytokine family were examined in more detail. The genes IL1RL1, IL18, IL18R1, IL18RAP were identified in multiple immune-system related cell types. The results suggest that proteins of the interleukin-1 family affect the development of atopic dermatitis. The results are the basis for further research into the contribution of specific genes in the disease.
Graduation Thesis language
Estonian
Graduation Thesis type
Bachelor - Computer Science
Supervisor(s)
Kaur Alasoo, Ana Rebane
Defence year
2021