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Title: Is there still a role for genome-wide association studies? : investigating the genetic architecture of primary open-angle glaucoma and associated phenotypes
Author: Venturini, C.
ISNI:       0000 0004 7659 380X
Awarding Body: UCL (University College London)
Current Institution: University College London (University of London)
Date of Award: 2016
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Despite the success of GWASs in the recent years, the genetic architecture of complex diseases, such as primary open-angle glaucoma is yet to be understood. The purpose of this thesis is to gain a better understanding of primary open-angle glaucoma using genetic association studies on several quantitative traits, such as intraocular pressure and optic nerve measurements. Collaborative efforts through extensive meta-analysis will help to increase the power of genetic association studies to identify novel variants for intraocular pressure and optic nerve parameters. In addition, gene-set enrichment analysis on the results of these meta-analyses may also help to shed a light on the mechanisms underlying glaucoma pathogenesis. Intraocular pressure and optic nerve cupping are not independent and they act together to determine the disease. Genetic association studies that combine information from different quantitative traits may help to identify novel genes affecting glaucoma susceptibility. In addition, epistatic interactions may also play a role in determining glaucoma endophenotypes variation and may help to identify novel loci affecting primary open-angle glaucoma susceptibility. Finally, primary open-angle glaucoma has been also associated with Alzheimer's disease, particularly the decrease of retinal ganglion cells. Elucidating the genetic underlying retinal nerve fibre layer and its relationship with Alzheimer's disease may help to discover and understand neurodegenerative mechanisms affecting primary open-angle glaucoma.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available