Exploration of the molecular genetics of exudative age-related macular degeneration.

Abstract

Tam, Oi Sin Pancy.Thesis (M.Phil.)--Chinese University of Hong Kong, 2007.Includes bibliographical references (leaves 101-128).Abstracts in English and Chinese.Table of ContentsTitle page --- p.iAbstract --- p.iii摘要 --- p.viAcknowledgements --- p.viiiTable of Contents --- p.ixList of Figures --- p.xiiiList of Tables --- p.xvAbbreviations --- p.xviiPublications related to the work of this thesis --- p.xxConference Presentations related to this thesis --- p.xxiChapter Chapter 1 --- IntroductionChapter 1.1 --- AMD --- p.1Chapter 1.2 --- Epidemiology --- p.4Chapter 1.3 --- Classification --- p.5Chapter 1.3.1 --- Dry AMD --- p.6Chapter 1.3.2 --- Wet/Exudative AMD --- p.9Chapter 1.4 --- Etiology and risk factors of AMD --- p.10Chapter 1.4.1 --- Gender and Ethnicity --- p.10Chapter 1.4.2 --- Smoking and vascular factors --- p.11Chapter 1.4.3 --- Genetic Factor --- p.11Chapter 1.5 --- Molecular Genetics of AMD --- p.12Chapter 1.5.1 --- Linkage studies --- p.12Chapter 1.5.2 --- Candidate genes search --- p.15Chapter 1.5.3 --- Genome-Wide Association --- p.18Chapter 1.5.3.1 --- Complement Factor H --- p.20Chapter 1.5.3.2 --- LOC387715 --- p.22Chapter 1.6 --- Statistical Analysis --- p.23Chapter 1.6.1 --- Genotyping --- p.23Chapter 1.6.2 --- Quality Assessment of Genetic Data --- p.24Chapter 1.6.3 --- Association Analysis --- p.26Chapter 1.6.4 --- Population Stratification --- p.26Chapter 1.6.5 --- Haplotype Analysis of Multiple SNPs --- p.26Chapter 1.6.6 --- Population Attributable Risk --- p.27Chapter 1.6.7 --- Interaction analysis --- p.28Chapter 1.7 --- Objectives --- p.28Chapter Chapter 2 --- Materials and Method --- p.30Chapter 2.1. --- Materials --- p.30Chapter 2.1.1. --- Proteins --- p.30Chapter 2.1.2. --- Chemicals --- p.30Chapter 2.1.3. --- Solutions and Buffers --- p.31Chapter 2.1.4. --- Reagents and Kits --- p.31Chapter 2.1.5. --- Apparatus --- p.32Chapter 2.1.6. --- Softwares --- p.32Chapter 2.2. --- Methods --- p.32Chapter 2.2.1. --- Study Subjects --- p.33Chapter 2.2.2. --- AMD atients --- p.33Chapter 2.2.3. --- Control Subjects --- p.34Chapter 2.2.4. --- DNA Extraction and Quantification --- p.34Chapter 2.2.5. --- Whole genome wide SNP scanning --- p.34Chapter 2.2.6. --- HTRA1 Genotyping --- p.38Chapter 2.2.6.1. --- Serial Polymerase Chain Reactions --- p.38Chapter 2.2.6.2. --- Cycle sequencing --- p.40Chapter 2.3. --- Statistical analysis --- p.40Chapter 2.3.1. --- Hardy-Weinberg Equilibrium Test --- p.40Chapter 2.3.2. --- Association Analysis: Linkage disequilibrium --- p.42Chapter 2.3.3. --- Haplotype Analysis --- p.43Chapter 2.3.4. --- Interaction Analysis --- p.43Chapter Chapter 3 --- Results --- p.46Chapter 3.1. --- Genome-wide Association Study of Exudative AMD --- p.46Chapter 3.1.1. --- Genotyping and Association Analysis --- p.46Chapter 3.1.2. --- Haplotype Analysis --- p.50Chapter 3.2. --- HTRA1 Genotyping --- p.57Chapter 3.2.1. --- Association Analysis --- p.57Chapter 3.2.2. --- Haplotype Analysis --- p.68Chapter 3.2.3. --- rsl 1200638 - Smoking Interaction --- p.68Chapter 3.2.4. --- rsl 1200638 - rs800292 Interaction --- p.74Chapter Chapter 4 --- Discussion --- p.79Chapter 4.1. --- Genome-wide Association Study of Exudative AMD --- p.79Chapter 4.1.1. --- Limitations and Concerns of Genome-Wide Association Study --- p.84Chapter 4.2. --- HTRA1 Genotyping --- p.85Chapter 4.2.1 --- Association and Haplotype Analysis --- p.85Chapter 4.2.2. --- HTRA1 --- p.87Chapter 4.2.3. --- Gene-Environment Interaction --- p.93Chapter 4.2.4. --- Gene-Gene Ineraction --- p.94Conclusions and Future Aspects --- p.97Electronic-Database Information --- p.100References --- p.10