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Is there still a role for genome-wide association studies? Investigating the genetic architecture of primary open-angle glaucoma and associated phenotypes

Venturini, C; (2016) Is there still a role for genome-wide association studies? Investigating the genetic architecture of primary open-angle glaucoma and associated phenotypes. Doctoral thesis , UCL (University College London). Green open access

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Abstract

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.

Type: Thesis (Doctoral)
Title: Is there still a role for genome-wide association studies? Investigating the genetic architecture of primary open-angle glaucoma and associated phenotypes
Event: UCL
Open access status: An open access version is available from UCL Discovery
Language: English
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1474473
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