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Title: Study of correlation between genetics and diseases using population and disease specific approaches
Authors: Chung, Teresa
Degree: Ph.D.
Issue Date: 2021
Abstract: The objective of this Ph.D. study is to use genetics to study the correlation of diseases to demonstrate precision medicine, firstly, on a population genomics level (chapter 2) then on a disease-specific level (chapters 3&4). For the population genomic study, we conducted a pilot study to evaluate the feasibility of risk prediction and precision public healthcare genetic disease burden assessment using genetic biomarkers. We have demonstrated the feasibility of a genetic approach for precision public healthcare to assist in public healthcare policy planning and revealed a panel of diseases that tend to be important for the Macau population. Whilst continuing expanding our Macau genomic database, we emphasized the importance of building a population specific genetic database for each precise region using genetic biomarkers such as SNPs. This could enhance a more efficient decision-making for health assessment at both population and individual levels. From the population genomic study, we discovered that the population-wide genetic risk distributions among Macau population and CHS from the 1000 Genome Project vary, this triggered us to further investigate the risks of genetic biomarkers to different diseases specific to the Southest-Southern Chinese population, which were only possible by studying specific diseases. One of the diseases we have chosen was to study Alzheimer's Disease in Hong Kong (Chapter 3), which was identified as having a high burden in the Macau population. In this study, we identified various rare variants in APOE, all of which are surprisingly scarce in Caucasian, would pose an increased risk of AD in the non-carriers of ε4-allele of the Southern Chinese population. We believe upon further functional and epigenetic studies, the result of this study would pave the way for precision medicine and precision public healthcare in tailoring AD management in Hong Kong and nearby regions. The second disease to study in detail with an aim to develop more accurate genetic markers specific to the Southest-Southern Chinese population was atopic dermatitis (AD) (Chapter 4). In this study, detailed analysis on clinical and genetic data have been conducted on AD cases and controls in Hong Kong. This study has determined the associations of different environmental factors with the duration of AD, AD severity, eosinophil and IgE in different subgroups of AD subjects, and concluded that clinical/environmental factors have a relatively low impact on the duration of AD and IgE level in the low AD severity cases but the higher the AD severity the subject gets, the higher the impact environmental factors can affect AD severity and IgE levels. For genetic analysis, 8 significant SNPs in association with duration of AD and 5 significant SNPs in association with IgE were found. Nevertheless, further fine mapping such as sequencing studies, epigenetic studies and functional studies deemed necessary to further elucidate the mechanisms of actions of the region surrounding the significant SNPs. Nevertheless, larger sample size is needed to validate the conclusions reached by the subgroup analysis.
Subjects: Medical genetics
Population genetics
Hong Kong Polytechnic University -- Dissertations
Pages: xxv, 592 pages : color illustrations
Appears in Collections:Thesis

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