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Identifier

000419772

Title

Comprehensive study of gene expression in th peripheral blood of systemic lupus erythematosus (SLE) patients

Alternative Title

Διεξοδική μελέτη της γονιδιακής έκφρασης στο περιφερειακό αίμα ασθενών με συστηματικό ερυθηματώδη λύκο

Author

Ντάσης, Βασίλειος-Φανούρης Σ.

Thesis advisor

Νικολάου, Χριστόφορος

Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with patients presenting varying levels of disease activity and diverse clinical manifestations. Better comprehension of the molecular mechanisms that underlie the basis of the pathology, will promote a better diagnosis, prognosis and treatment of patients. In this study, RNASeq data from peripheral blood samples of 142 SLE patients and 58 healthy individuals were compared from multiple perspectives. A number of different analyses were implemented. Already known and novel molecular signatures were identified as differentially deregulated and associated with disease activity and/or renal manifestations of the disease. Among the most prominent of them were cell cycle, interferon and plasmablast signatures. Moreover, topological organization of gene expression was extensively studied. Genomic coexpression domains (CODs) were detected in patient subgroups and in healthy control group. Results suggest a more ‘fragmented’ topological profile for patient gene expression. At the same time, differences in the size and distribution of CODs were observed between different patient subgroups, suggesting a link between gene expression organization and disease development. Cross-correlation of the defined genomic regions with genetic data is likely to uncover probable origins of the gene expression aberrations associated with SLE progression.

Language

English

Subject

Autoimmunity

Molecular signatures

Αυτοανοσία

Μοριακές υπογραφές

Issue date

2018-11-23

Collection

School/Department--School of Sciences and Engineering--Department of Biology--Post-graduate theses

Type of Work--Post-graduate theses