Author: Yiu, Wai Chi
Title: A genetic epidemiological study of myopia : identification of myopia susceptibility genes
Degree: Ph.D.
Year: 2012
Subject: Myopia -- Genetic aspects.
Hong Kong Polytechnic University -- Dissertations
Department: School of Optometry
Pages: xxxiii, 412 leaves : ill. (some col.) ; 30 cm.
Language: English
Abstract: Myopia is a complex disease. People with high degrees of myopia have a greater chance of developing irreversible visual impairment. Myopia becomes epidemic in East Asia with no exception in Hong Kong. The financial burden is increased for the health care system in these regions. The development of high myopia must be controlled in order to solve the problem. The aim of this project was to identify susceptibility genes for high myopia by case-control association studies in a Chinese population. Eleven genes with possible ocular functions and/or within the chromosomal locations of MYP loci were selected. Common representative single nucleotide polymorphisms (SNPs) of the candidate genes were genotyped for a discovery sample set and, if significant association was demonstrated, a replication sample set. Three genes VIPR2, ARHGEF12 and SEPT4 were identified as novel susceptibility genes for high myopia. Association signals were revealed for the ZNF275, but the association signals were in opposite directions. Seven other genes (EGR1, JUN, FOS, VIP, APOE, COX11 and DHX40) were unlikely to be important in the genetic susceptibility to high myopia because significant association was not demonstrated. A pilot genome-wide association study (GWAS) (100 cases and 100 controls) was conducted. Follow-up study was conducted using the above-mentioned two sample sets for 20 top-ranking SNPs that are predicted to have functional effects or are located within MYP loci. Significant association was established for a SNP (rs11079899) and its haplotypes located on chromosome 17, a region flanked by two genes COL1A1 and SUMO2P7. This is the first GWAS to report the involvement of chromosome 17 in high myopia. An in-depth study of the HGF gene, a reported myopia susceptibility gene, was also undertaken to systematically refine the causal region. Three main findings were discovered. First, the involvement of HGF in high myopia was replicated. Second, the causal region was refined. In addition, our results were also consistent with published data. In conclusion, the hypothesis-driven approach successfully identified three novel myopia susceptibility genes while the hypothesis-free approach established an associated region on chromosome 17. In-depth study of HGF enabled the causal region to be refined.
Rights: All rights reserved
Access: open access

Files in This Item:
File Description SizeFormat 
b26158553.pdfFor All Users6.02 MBAdobe PDFView/Open

Copyright Undertaking

As a bona fide Library user, I declare that:

  1. I will abide by the rules and legal ordinances governing copyright regarding the use of the Database.
  2. I will use the Database for the purpose of my research or private study only and not for circulation or further reproduction or any other purpose.
  3. I agree to indemnify and hold the University harmless from and against any loss, damage, cost, liability or expenses arising from copyright infringement or unauthorized usage.

By downloading any item(s) listed above, you acknowledge that you have read and understood the copyright undertaking as stated above, and agree to be bound by all of its terms.

Show full item record

Please use this identifier to cite or link to this item: