Author: Ng, Man-yu
Title: Case-control association study of hepatocyte growth factor (HGF) gene polymorphisms and high myopia
Degree: M.Sc.
Year: 2010
Subject: Hong Kong Polytechnic University -- Dissertations
Myopia -- Genetic aspects
Department: Department of Health Technology and Informatics
Pages: xv, 122 leaves : ill. (some col.) ; 30 cm.
Language: English
Abstract: Myopia is a kind of complex disease that both environmental and genetic factors have been associated with the onset and progression of myopia. This study was to test the genetic association between single nucleotide polymorphisms (SNPs) of the HGF gene and high myopia using case-control study in Hong Kong Chinese population. Using HapMap database, nine tag SNPs were selected from the HGF gene with the selection criteria of r² >0.8 and minor allele frequency (MAF) >0.1 for Han Chinese population. DNA samples from 300 cases (≦ -8.0 dioptres, D) and 300 controls (± 1.0 dioptres, D) were amplified from the HGF region by polymerase chain reaction (PCR). The PCR products were examined using either restriction fragment length polymorphism (RFLP) technique or unlabeled probe melting analysis. The allele and genotype frequencies were compared between cases and controls by χ2 tests. The linkage disequilibrium between cases and control subjects were studied by the Haploview software. As a result, all the nine tag SNPs did not show any significant difference in allele and genotype frequencies or in haplotype frequencies between cases and controls. HGF was previously shown to have positive correlation with high myopia in family-based association studies in Han Chinese and Caucasians, also in a case-control study in Caucasians. However, the association was not replicated in this study using case-control study in Hong Kong Chinese population. The allele and genotype frequencies found in the present study might represent the real situations in Hong Kong Chinese population which could be different to those found in other populations in previous studies. However, the findings might be limited by the sample size and criteria used in recruitment of cases and controls. Moreover, limitations in the techniques used in this study might result in genotyping errors. It was suggested to replicate association studies using a bigger sample size and more stringent selection criteria for cases and controls, different techniques in SNP genotyping, and also to include the SNPs which were found to have significant association in previous studies. The association between the HGF gene and high myopia should further be explored through different further studies.
Rights: All rights reserved
Access: restricted access

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