Figures & data
Table 1 The Features and Details of AA Research Participants
Table 2 The Genomic Locations on SNP in AA Disease (p<1E-07)
Figure 1 The relationship of genome-wide variations with AA as determined by Manhattan plot analysis. SNP that passed quality control are plotted on the X-axis according to their chromosomal locations versus the Y-axis in Manhattan plot analysis (-log10 p-value). The higher solid line represents the genome-wide significance criterion (P<5E-8).
![Figure 1 The relationship of genome-wide variations with AA as determined by Manhattan plot analysis. SNP that passed quality control are plotted on the X-axis according to their chromosomal locations versus the Y-axis in Manhattan plot analysis (-log10 p-value). The higher solid line represents the genome-wide significance criterion (P<5E-8).](/cms/asset/60971e2c-9d3f-473c-b4e5-4f7d11ee498c/dcci_a_12295733_f0001_c.jpg)
Figure 2 The relationship of genome-wide variations with AA as determined by quantile-quantile (QQ) plot analysis. The lambda (based on median chisq) was 0.875.
![Figure 2 The relationship of genome-wide variations with AA as determined by quantile-quantile (QQ) plot analysis. The lambda (based on median chisq) was 0.875.](/cms/asset/186cd717-9130-4927-b801-71268c20738c/dcci_a_12295733_f0002_c.jpg)
Figure 3 Regional association plot of NOTCH4 (A) and HLA-DQA1 gene (B) in AA. Regional plots for the loci showing significant differences in effect-size estimates. The plot typically shows the position of each SNP along the x-axis and the negative log10 P-value. Color of the point was used to show the linkage disequilibrium (LD) between SNPs.
![Figure 3 Regional association plot of NOTCH4 (A) and HLA-DQA1 gene (B) in AA. Regional plots for the loci showing significant differences in effect-size estimates. The plot typically shows the position of each SNP along the x-axis and the negative log10 P-value. Color of the point was used to show the linkage disequilibrium (LD) between SNPs.](/cms/asset/507157c0-5390-46f5-a50c-56719077743c/dcci_a_12295733_f0003_c.jpg)
Table 3 The Top 25 Canonical Network Analysis of GWAS Results in AA Disease
Figure 4 Network studies of 882 SNP gene locations that are associated with AA. Cross analysis of the number of genes and pathways (SNPs gene loci, P<1E-05).
![Figure 4 Network studies of 882 SNP gene locations that are associated with AA. Cross analysis of the number of genes and pathways (SNPs gene loci, P<1E-05).](/cms/asset/5053e0f7-2340-4435-ba2e-c50020c0c1e2/dcci_a_12295733_f0004_c.jpg)
Figure 5 Network analyses of the antigen presentation pathway target gene (A) and the gene that Notch signaling targets (B). IPA software analyzed network analysis (SNPs gene loci, P<1E-05).
![Figure 5 Network analyses of the antigen presentation pathway target gene (A) and the gene that Notch signaling targets (B). IPA software analyzed network analysis (SNPs gene loci, P<1E-05).](/cms/asset/93186dc1-c12c-491d-afd4-59c8771d5564/dcci_a_12295733_f0005_c.jpg)
Figure 6 The genetic markers associated with skin and hair diseases (A). Nine genetic markers associated with the IFN-γ-JAK-STAT signal transmission pathway (B). IPA software analyzed network analysis (SNPs gene loci, P<1E-05).
![Figure 6 The genetic markers associated with skin and hair diseases (A). Nine genetic markers associated with the IFN-γ-JAK-STAT signal transmission pathway (B). IPA software analyzed network analysis (SNPs gene loci, P<1E-05).](/cms/asset/7d164143-e8c3-4b1c-8c42-80b77136a09b/dcci_a_12295733_f0006_c.jpg)
Table 4 HLA Genotypes and Allele Frequency Significantly Associated with AA in a Taiwanese Population (Adjust p-value<0.05)
Table 5 AA Disease-Related Target Gene and SNP Location Analysis in Taiwan and International Studies
Figure 7 The molecular mechanisms involved in AA disease are depicted. Details are provided in the text.
![Figure 7 The molecular mechanisms involved in AA disease are depicted. Details are provided in the text.](/cms/asset/99a9d286-da77-45f5-80bd-31604e9d9ee9/dcci_a_12295733_f0007_c.jpg)