Fig 1.
Manhattan plot of the association between SNPs and susceptibility of CAA formation in KD.
The −log10 P-values of significance shown in chromosomal order for qualified 559,602 SNPs tested for association in initial sample of 11 KD patients with CAA and 146 KD ones without CAA. The x-axis represents each of the SNPs used in the primary scan according to their genomic location. The y-axis indicates the −log10 P-values of the trend test. Horizontal lines indicate the general and stringent thresholds of −log10 P as 5 and 7, respectively.
Table 1.
Subject statistics used in this study.
Table 2.
Top 15 non-intergenic SNPs associated with susceptibility of CAA formation in KD.
Table 3.
Top 10 non-intergenic SNPs associated with susceptibility of CAA formation in KD using the general genotypic model.
Fig 2.
Linkage disequilibrium plot of a region covering all SNPs of NEBL.
Two significant SNPs; rs16921209 (P = 7.44 × 10−9; OR = 32.22) and rs7922552 (P = 8.43 × 10−9; OR = 32.0), both located in the introns of NEBL are in high linkage disequilibrium (r2 = 0.99), which might imply their co-interplay to susceptibility of CAA formation in KD patients.
Fig 3.
Linkage disequilibrium plot of a region containing all SNPs of TUBA3C and LOC101928697.
The significant genetic variant of rs17076896 (P = 8.04 × 10−9; OR = 21.03) is located in the shared promoter region between TUBA3C and LOC101928697, which showed a high linkage disequilibrium (r2 = 0.90) with another down-stream SNP, rs17790632, in LOC101928697.
Fig 4.
Top three gene ontology enrichment groups associated with susceptibility of CAA formation in KD.
After gene ontology (GO) enrichment analysis, 162 over-represented GO terms were obtained and further summarized into GO clusters. The top three significant clusters were regulation of cell projection organization (P = 2.22 × 10−6), neuron recognition (P = 6.72 × 10−5), and peptidyl-threonine phosphorylation (P = 1.53 × 10−3).