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Identification of biomarker candidates for glaucoma from autoimmunity profiling array
University of Skövde, School of Bioscience.
2021 (English)Independent thesis Advanced level (degree of Master (Two Years)), 30 credits / 45 HE creditsStudent thesis
Abstract [en]

Glaucoma is a set of eye diseases which leads to irreparable blindness, divided into two main subtypes: open-angle and angle-closure. A further subtype of open-angle glaucoma is known as exfoliative glaucoma which is characterized by the formation of flake-like formations in the back of the eye. The identification of biomarkers which might facilitate the early detection, modelling, and/or treatment of the disease is crucial to reducing the societal impact of blindness caused by glaucoma. The aim of this study was to identify such biomarkers for exfoliative glaucoma using autoimmunity profiling data performed on samples from a Scandinavian cohort of patients with the disease. Samples were taken from 30 patients diagnosed with exfoliative glaucoma and 30 healthy donors and analyzed against 258 antigens selected based on the results of a previous study at this location. To identify differentially expressed genes, multiple separate statistical methods were used, and a binary logistic regression model was constructed to classify diseased and control samples. Using only three variables, the regression model was able to classify samples with an AUC of 86.9%. Furthermore, gene set enrichment was performed to identify pathways which were overexpressed in potentially significant genes which highlighted the enrichment of pathways related to collagen fibril formation and regulatory molecules miR-3176 and miR-876-5p. Multiple genes were highlighted as possible biomarker candidates including SCG5, CDH5, and the LOX family genes. Several candidates highlighted here are also associated with glucose dysregulation and the associated type-2 diabetes, and may indicate a strong connection between these conditions’ underlying mechanisms. We suggest a hypothesis related to the function of some of these candidates, however several of these have not been well explored in previous studies related to glaucoma, so further testing is recommended in order to validate these results.

Place, publisher, year, edition, pages
2021. , p. 27
National Category
Bioinformatics and Systems Biology
Identifiers
URN: urn:nbn:se:his:diva-21230OAI: oai:DiVA.org:his-21230DiVA, id: diva2:1670275
External cooperation
Skaraborgs Sjukhus
Subject / course
Systems Biology
Educational program
Biomarkers in Molecular Medicine - Master's Programme 120 ECTS
Supervisors
Examiners
Available from: 2022-06-15 Created: 2022-06-15 Last updated: 2022-06-15Bibliographically approved

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The full text will be freely available from 2025-01-01 00:00
Available from 2025-01-01 00:00

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CiteExportLink to record
Permanent link

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Cite
Citation style
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf