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Single nucleotide polymorphisms associated with familial combined hyperlipidemia and combined hyperlipidemia in Hong Kong Chinese: a case-control study.

Liu, Zhi Kai. / Thesis submitted in: December 2006. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2007. / Includes bibliographical references (leaves 105-117). / Abstracts in English and Chinese. / Abstract (English version) --- p.i / Abstract (Chinese version) --- p.v / Acknowledgement --- p.vii / Statement of contribution --- p.x / Table of Contents --- p.xi / List of Tables --- p.xv / List of Figures --- p.xviii / List of Abbreviations --- p.xix / Publications arising from this thesis --- p.xxi / Chapter Chapter One --- Introduction / Chapter 1.1 --- "Lipids, lipoproteins and lipid metabolism" --- p.1 / Chapter 1.1.1 --- Cholesterol --- p.1 / Chapter 1.1.2 --- Triglycerides --- p.2 / Chapter 1.1.3 --- Lipoproteins and their metabolic pathways --- p.3 / Chapter 1.2 --- Familial combined hyerlipidemia and combined hyperlipidemia --- p.4 / Chapter 1.3 --- Single nucleotide polymorphisms --- p.9 / Chapter 1.3.1 --- SNP genotyping methods --- p.9 / Chapter 1.3.2 --- Association of SNPs with genetic diseases --- p.10 / Chapter 1.4 --- Genetic analysis of FCH and CH --- p.10 / Chapter 1.4.1 --- FCH genome scans --- p.11 / Chapter 1.4.2 --- SNP based candidate gene analysis --- p.11 / Chapter 1.5 --- Candidate genes and SNPs associated with FCH and CH --- p.12 / Chapter 1.5.1 --- Apolipoprotein A1/C3/A4/A5 gene cluster --- p.12 / Chapter 1.5.1.1 --- Apolipoprotein A1 gene --- p.15 / Chapter 1.5.1.2 --- Apolipoprotein C3 gene --- p.16 / Chapter ].5.1.3 --- Apolipoprotein A4 gene --- p.17 / Chapter 1.5.1.4 --- Apolipoprotein A5 gene --- p.18 / Chapter 1.5.2 --- Upstream transcription factor 1 gene --- p.24 / Chapter 1.5.3 --- Lipoprotein lipase gene --- p.25 / Chapter 1.5.4 --- Peroxisome proliferators-activated receptor γ gene --- p.26 / Chapter 1.5.5 --- a-adducin gene --- p.27 / Chapter 1.5.6 --- SNPs selected from the haplotype map --- p.27 / Chapter 1.6 --- Objectives --- p.28 / Chapter Chapter Two --- Materials and methods / Chapter 2.1 --- Overview --- p.31 / Chapter 2.2 --- Routine assessments --- p.32 / Chapter 2.2.1 --- Genetic hyperlipidemia survey --- p.32 / Chapter 2.2.2 --- Physical examinations --- p.33 / Chapter 2.2.3 --- Biochemical measurements --- p.33 / Chapter 2.2.3.1 --- Fasting plasma cholesterol --- p.33 / Chapter 2.2.3.2 --- Fasting plasma triglyceride --- p.34 / Chapter 2.2.3.3 --- Fasting plasma glucose --- p.34 / Chapter 2.3 --- Subjects --- p.34 / Chapter 2.3.1 --- FCH cases --- p.34 / Chapter 2.3.2 --- CH cases --- p.35 / Chapter 2.3.3 --- Normal controls --- p.36 / Chapter 2.4 --- DNA extraction from blood specimens --- p.36 / Chapter 2.4.1 --- Phenol chloroform method --- p.36 / Chapter 2.4.2 --- High pure PCR template preparation kit (Roche) --- p.37 / Chapter 2.5 --- Genotyping by the MassARRAY system --- p.38 / Chapter 2.6 --- Statistical analyses --- p.40 / Chapter 2.6.1 --- Overview --- p.40 / Chapter 2.6.2 --- Student's t-test --- p.41 / Chapter 2.6.3 --- Pearson's Chi-square test --- p.41 / Chapter 2.6.4 --- Hardy-Weinberg equilibrium --- p.41 / Chapter 2.6.5 --- Binary logistic regression test --- p.42 / Chapter 2.6.6 --- Analysis of covariance --- p.43 / Chapter 2.6.7 --- Haplotype analysis --- p.43 / Chapter 2.6.8 --- Bonferroni's correction --- p.44 / Chapter Chapter Three --- Results / Chapter 3.1 --- Overview --- p.46 / Chapter 3.2 --- Characteristics of the study population --- p.47 / Chapter 3.2.1 --- FCH cases versus controls --- p.47 / Chapter 3.2.2 --- CH cases versus controls --- p.50 / Chapter 3.3 --- Hardy-Weinberg equilibrium --- p.52 / Chapter 3.3.1 --- FCH cases and controls --- p.52 / Chapter 3.3.2 --- CH cases and controls --- p.53 / Chapter 3.4 --- APOA1/C3/A4/A5 gene cluster --- p.56 / Chapter 3.4.1 --- FCH cases versus controls --- p.56 / Chapter 3.4.1.1 --- Genotypic distribution and allelic frequency --- p.56 / Chapter 3.4.1.2 --- Odds ratio --- p.59 / Chapter 3.4.1.3 --- Parameter analysis --- p.61 / Chapter 3.4.1.4 --- Haplotype analysis --- p.68 / Chapter 3.4.2 --- CH cases versus controls --- p.69 / Chapter 3.4.2.1 --- Genotypic distribution and allelic frequency --- p.69 / Chapter 3.4.2.2 --- Odds ratio --- p.70 / Chapter 3.4.2.3 --- Parameter analysis --- p.74 / Chapter 3.4.2.4 --- Haplotype analysis --- p.83 / Chapter 3.5 --- USF1 gene --- p.84 / Chapter 3.5.1 --- FCH cases versus controls --- p.84 / Chapter 3.5.2 --- CH cases versus controls --- p.85 / Chapter 3.6 --- LPL gene --- p.87 / Chapter 3.6.1 --- FCH cases versus controls --- p.87 / Chapter 3.6.2 --- CH cases versus controls --- p.88 / Chapter 3.7 --- PPARγgene --- p.89 / Chapter 3.7.1 --- FCH cases versus controls --- p.89 / Chapter 3.7.2 --- CH cases versus controls --- p.90 / Chapter 3.8 --- ADD] gene --- p.91 / Chapter 3.8.1 --- FCH cases versus controls --- p.91 / Chapter 3.8.2 --- CH cases versus controls --- p.91 / Chapter Chapter Four --- Discussion / Chapter 4.1 --- Comparisons of the findings with these of other studies --- p.93 / Chapter 4.1.1 --- APOA1/C3/A4/A5 gene cluster --- p.93 / Chapter 4.1.1.1 --- APOA1 --- p.93 / Chapter 4.1.1.2 --- APOC3 --- p.94 / Chapter 4.1.1.3 --- APOA4 --- p.96 / Chapter 4.1.1.4 --- APOA4-A5 --- p.96 / Chapter 4.1.1.5 --- APOA5 --- p.97 / Chapter 4.1.2 --- USF1 --- p.101 / Chapter 4.1.3 --- LPL --- p.102 / Chapter 4.1.4 --- PPARγ --- p.102 / Chapter 4.1.5 --- ADD1 --- p.03 / Chapter 4.2 --- Conclusions --- p.103 / Chapter 4.3 --- Implications for future research --- p.104 / References --- p.105

Identiferoai:union.ndltd.org:cuhk.edu.hk/oai:cuhk-dr:cuhk_325965
Date January 2007
ContributorsLiu, Zhi Kai., Chinese University of Hong Kong Graduate School. Division of Medical Sciences.
Source SetsThe Chinese University of Hong Kong
LanguageEnglish, Chinese
Detected LanguageEnglish
TypeText, bibliography
Formatprint, xxi, 117 leaves : ill. ; 30 cm.
CoverageChina, Hong Kong, China, Hong Kong, Hong Kong, Hong Kong
RightsUse of this resource is governed by the terms and conditions of the Creative Commons “Attribution-NonCommercial-NoDerivatives 4.0 International” License (http://creativecommons.org/licenses/by-nc-nd/4.0/)

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