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Title: Quantitative traits related to primary open angle glaucoma in the Scottish population isolate of Orkney
Author: Karunaratne, Vidarshi Kumudu Kumari
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 2012
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The aetiology and pathogenesis of primary open angle glaucoma (POAG), the second most common cause of irreversible visual loss in the United Kingdom, remains a conundrum for contemporary ophthalmology. Evidence suggests that glaucoma is a complex disorder, where multiple genes interact with each other and with factors in the environment. However, the aetiological heterogeneity of glaucoma coupled with its varied clinical presentation and course has made the study of glaucoma genes problematic. We established the Orcades Eye Study, a cross sectional family based genetic study, to explore the inheritance of primary open angle glaucoma (POAG). As POAG is a disease of late onset and low prevalence, rather than study disease per se we chose to study quantitative traits (QTs) related to POAG, in an isolated population in the northern Scottish archipelago of Orkney. A number of factors in this population, including reduced genetic heterogeneity and more homogenous environmental effects, confer certain advantages over more admixed urban populations in complex disease gene mapping. Preliminary analysis of the procured quantitative trait data (n=256) has demonstrated that the values obtained for the POAG related QTs of intraocular pressure (IOP), central corneal thickness and a number of optic disc parameters including optic cup area, disc area, retinal nerve fiber thickness, vertical cup to disc ratio and peripapillary atrophy are not dissimilar to other published White Caucasian populations. We also found that intraocular pressure shows an increase with age and is influenced by central corneal thickness but found no relationship between IOP and gender or IOP and other ocular biometric variables including optic nerve head parameters and refractive components. Neither central corneal thickness nor optic nerve head parameters had a statistically significant relationship to age, gender or other tested ocular biometric parameters. These findings are clinically important as these factors should be taken into consideration when evaluating intraocular pressure and other ocular biometric traits in the investigation of glaucoma and other ocular diseases in the population of Orkney. Data collection is ongoing, and with time, an increased sample size and a meaningful genetic analysis, the Orcades Eye Study will hopefully identify genes and regions of the genome associated with primary open angle glaucoma susceptibility in the Scottish Population Isolate of Orkney. To our knowledge, the only other population based study which has investigated as large a number of glaucoma related QTs is the Beijing Eye Study.
Supervisor: Wright, Alan; Campbell, Harry; Fleck, Brian Sponsor: Chief Scientist Office of the Scottish Executive ; Medical Research Council (MRC) ; National Health Service (Scotland) ; International Glaucoma Association
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available
Keywords: glaucoma ; genetics ; quantitative traits