Title Page
Contents
Abstract 10
I. INTRODUCTION 13
II. MATERIALS AND METHODS 16
1. Study population. 16
2. Genetic analyses. 18
3. Statistical analysis. 20
III. RESULTS 22
1. Characteristics of the study population. 22
2. rs4759314 A〉G, rs1899663 G〉T and rs12826786 C〉T polymorphisms are significantly correlated with CAD. 24
3. Relationship between metabolic syndrome and genotype frequencies 27
4. Gene-gene interaction analyses 31
5. Haplotype analysis of polymorphisms with synergistic effects. 34
6. Interaction analysis between gene and clinical factors 41
7. Stratified analysis according to clinical factors with HOTAIR polymorphisms 49
8. Clinical variables in CAD patients stratified by HOTAIR polymorphisms status by analysis of variance (ANOVA) 56
IV. Discussion 69
V. CONCLUSION 72
Reference 73
국문요약 78
Table 1. Details of HOTAIR polymorphisms or PCR-RFLP analysis 19
Table 2. Baseline characteristics of control subjects and coronary artery disease patients. 23
Table 3. Comparison of genotype frequencies and AOR values of HOTAIR polymorphisms between the CAD and control subjects 25
Table 4. Comparison of genotype frequencies and AOR values of HOTAIR polymorphisms between the... 28
Table 5. Genotype combination analysis of HOTAIR polymorphisms in CAD and controls subjects. 32
Table 6. Haplotype analysis of HOTAIR polymorphisms in CAD and controls subjects. 36
Table 7. CAD incidence by interactions with gender, advanced age, hypertension, diabetes mellitus, hyperlipidemia, smoking, folate and homocysteine. 42
Table 8. Stratified analysis of HOTAIR polymorphisms for age, gender hypertension, diabetes mellitus, hyperlipidemia, smoking in participants. 50
Table 9. Clinical variables in CAD patients and controls stratified by HOTAIR polymorphisms status by ANOVA 57
Table 10. Clinical variables in controls stratified by HOTAIR polymorphisms status by ANOVA 61
Table 11. Clinical variables in CAD patients stratified by HOTAIR polymorphisms status by ANOVA 65
Figure 1. Location of the six HOTAIR single nucleotide polymorphisms 15
Figure 2. LD patterns of HOTAIR gene... 38
Figure 3. LD patterns of HOTAIR gene... 39
Figure 4. LD patterns of HOTAIR gene... 40
Figure 5. The synergic effect analysis for... 45
Figure 6. The synergic effect analysis for... 46
Figure 7. The synergic effect analysis for... 47
Figure 8. The synergic effect analysis for... 48