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Family study of high myopia: association studies

Zayats, Tetyana 2010. Family study of high myopia: association studies. PhD Thesis, Cardiff University.

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High myopia (more severe than -6.00 Diopters) is one of the leading causes of blindness and vision impairment in the world. Its prevalence has rapidly been growing and the estimated number of myopic people worldwide is expected to be 2.5 billion by the year 2020. My experimental work covered three topics: (1) characterization of the quantity and quality of mouth wash-extracted DNA (2) genetic association studies, and (3) evaluation of an imprinting effect in high myopia. Mouthwash-derived DNA is an important source of human DNA for large-scale genetic studies. Thus, potential methods of DNA quantification (spectrophotometry, fluorometry, gel electrophoresis and qPCR) and quality assessment (gel electrophoresis and PCR) were evaluated. Regarding DNA quantification methods, fluorometry compared favorably to the gold-standard qPCR. DNA quality assessments revealed that -10% of collected buccal DNA samples were severely degraded—a phenomenon that was shown to be partly subject-specific. Myopia association studies were performed for: genes in MYP regions, the myocilin gene, the collagen type I alpha 1 gene and the collagen type II alpha 1 gene. These genes have been linked to myopia because of their function and/or previous positive findings. All tests were performed on a combined dataset of complex high myopia pedigrees and cases/controls, applying likelihood ratio statistics and Bonferroni correction to account for multiple testing. The results suggested that none of the genes examined have an important influence on susceptibility to high myopia. There is greater resemblance of refractive error between siblings than between parents and offspring, implying the possibility of imprinting in the aetiology of myopia. Thus, tests for imprinting were performed on "trio" pedigrees, applying Z-score and T2-test statistics and permutation to account for multiple testing. The results tentatively suggested that parent-of- origin effects and/or by maternal effects contribute to myopia development.

Item Type: Thesis (PhD)
Status: Unpublished
Schools: Optometry and Vision Sciences
Subjects: R Medicine > RE Ophthalmology
ISBN: 9781303217777
Date of First Compliant Deposit: 30 March 2016
Last Modified: 19 Mar 2016 23:31

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