Title Page
Contents
ABSTRACT 9
국문초록 11
CHAPTER 1. Introduction 13
1.1. Introduction 13
CHAPTER 2. Materials and Methods 15
2.1. Genome-wide association study data 15
2.2. Expression quantitative trait locus data 16
2.3. CAV1 and CAV2 gene expression data 16
2.4. Colocalization analysis 17
2.5. Functional analysis 18
CHAPTER 3. Results 20
3.1. Colocalization analysis 20
3.2. Functional analysis 33
CHAPTER 4. Discussion 39
REFERENCES 43
[Table 3-1] Number of ischemic strokes GWAS signals by its subtypes used in the current colocalization analysis. 22
[Table 3-2] Colocalized region of ischemic stroke subtype GWAS signals with single cell eQTLs. 23
[Table 3-3] Candidate causal variants at colocalized regions identified in this study. 26
[Table 3-4] Correlation of gene expression of the CAV1 and CAV2 gene by 6 brain cell types. 38
[Figure 3-1] Heatmap plot of the colocalization (PP4 value for each GWAS signal - eGene) by cell types. Cell types in the brain are presented in bold. Colocalized... 25
[Figure 3-2] Linkage disequilibrium (LD) plots of significant shared causal variants. The LD plots of significant shared causal variants located on chromosomes 1 (a)... 32
[Figure 3-3] Colocalized regions for ICA1L & RAPH1 gene at chromosome 2 in excitatory neurons, astrocytes & OPCs/COPs in SVS. 35
[Figure 3-4] Colocalized regions for SCYL3 gene at chromosome 1 in oligodendrocytes in CS. 36
[Figure 3-5] Colocalized regions for CAV1 & CAV2 gene at chromosome 7 in oligodendrocytes in CS. 37