Genotype and allele frequencies of <i>CD209</i> gene in patients having Kawasaki disease with or without coronary artery lesion formation.

<p>*Significant (<i>P</i><0.05) values are in bold.</p>a<p><i>P</i> values are calculated using the Pearson's x² test for the recessive model.</p>b<p>ORs are for the recessive model (minor allele homozygotes versus heterozygotes and major allele homozygotes).</p

CD209 gene linkage disequilibrium and haplotype block structure in KD.

<p>The number on the cell is the LOD score of D′.</p

Genotype and allele frequencies of the <i>CD209</i> gene in controls and patients with Kawasaki disease.

<p>*Significant (<i>P</i><0.05) values are in bold.</p>a<p><i>P</i> values are calculated using the Pearson's x² test for the recessive model.</p>b<p>ORs are for the recessive model (minor allele homozygotes versus heterozygotes and major allele homozygotes).</p

Haplotype frequencies of the <i>CD209</i> gene in controls and patients with Kawasaki disease.

<p>Haplotype frequency less than 1% was excluded.</p><p>**Significant (<i>P</i><0.01) values are in bold.</p><p>*Significant (<i>P</i><0.05) values are in bold.</p

Basal characteristics of patients with Kawasaki disease and normal controls.

<p>CAL: coronary artery lesions; IVIG: intravenous immunoglobulin; SD: standard deviation.</p

Haplotype frequencies of the <i>CD209</i> gene in controls and patients with Kawasaki disease.

<p>Haplotype frequency less than 1% was excluded.</p

Genotype and allele frequencies of the <i>CD209 </i>gene in patients with Kawasaki disease responding or not responding to intravenous immunoglobulin treatment.

<p>*Significant (<i>P</i><0.05) values are in bold.</p>a<p><i>P</i> values are calculated using the Pearson's x² test for the recessive model.</p>b<p>ORs are for the recessive model (minor allele homozygotes versus heterozygotes and major allele homozygotes).</p

Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease

<div><p>Kawasaki disease (KD) or Kawasaki syndrome is known as a vasculitis of small to medium-sized vessels, and coronary arteries are predominantly involved in childhood. Generally, 20–25% of untreated with IVIG and 3–5% of treated KD patients have been developed coronary artery lesions (CALs), such as dilatation and aneurysm. Understanding how coronary artery aneurysms (CAAs) are established and maintained in KD patients is therefore of great importance. Upon our previous genotyping data of 157 valid KD subjects, a genome-wide association study (GWAS) has been conducted among 11 (7%) CAA-developed KD patients to reveal five significant genetic variants passed pre-defined thresholds and resulted in two novel susceptibility protein-coding genes, which are NEBL (rs16921209 (P = 7.44 × 10⁻⁹; OR = 32.22) and rs7922552 (P = 8.43 × 10⁻⁹; OR = 32.0)) and TUBA3C (rs17076896 (P = 8.04 × 10⁻⁹; OR = 21.03)). Their known functions have been reported to associate with cardiac muscle and tubulin, respectively. As a result, this might imply their putative roles of establishing CAAs during KD progression. Additionally, various model analyses have been utilized to determine dominant and recessive inheritance patterns of identified susceptibility mutations. Finally, all susceptibility genes hit by significant genetic variants were further investigated and the top three representative gene-ontology (GO) clusters were regulation of cell projection organization, neuron recognition, and peptidyl-threonine phosphorylation. Our results help to depict the potential routes of the pathogenesis of CAAs in KD patients and will facilitate researchers to improve the diagnosis and prognosis of KD in personalized medicine.</p></div

Th17 related mRNA and cytokine expression levels.

<p>Animals were examined on post-natal day (PD120). Data are mean ± SEM of 4–14 individuals. Vehicle: control group raised by control maternal rats, DEX: experimental group raised by experimental maternal rats, SD: Experimental group cross-fostered by control maternal rats, DS: Control group cross-fostered by experimental maternal rats. An asterisk (*) denotes a significant difference (p<0.05) between 2 groups by non-parametric tests.</p

Th1 related mRNA expression levels.

<p>Animals were examined on post-natal day 120 (PD120). Data are expressed as mean ± SEM of 4–14 individuals. Vehicle: control group raised by control maternal rats, DEX: experimental group raised by experimental maternal rats, SD: Experimental group cross-fostered by control maternal rats, DS: Control group cross-fostered by experimental group maternal rats. An asterisk (*) Denotes a significant (p<0.05) between 2 groups by non-parametric tests.</p