The 53rd Annual Meeting of Japanese Society of Pediatric Cardiology and Cardiac Surgery

Presentation information

JCK Oral

JCK Oral 4 (II-JCKO4)
Kawasaki Disease/General Cardiology 1

Sat. Jul 8, 2017 3:30 PM - 4:20 PM ROOM 3 (Exhibition and Event Hall Room 3)

Chair:Masahiro Ishii(Department of Pediatrics, Kitasato University School of Medicine, Kanagawa, Japan)
Chair:Min Huang(Shanghai Children's Hospital, China)
Chair:Seong-Ho Kim(Department of Pediatrics, Sejong General Hospital, Korea)

3:30 PM - 4:20 PM

[II-JCKO4-02] Identification of susceptibility genes associated with Kawasaki disease by targeted enrichment of genomic region sequencing technique

Danying Zhu1, Han Zhang1, Sirui Song1, Lijian Xie1, Feng Qiu2, Jing Yang2,Tingting Xiao1, Min Huang1, (1.Department of Cardiology,Shanghai Children's Hospital Affiliated to Shanghai Jiaotong University,Shanghai,China, 2.Shanghai Center for Bioinformation Technology)

Objective
To discover susceptibility genes associated with Kawasaki disease(KD) and coronary artery lesion(CAL) through targeted enrichment of genomic region sequencing technique.
Methods
114 KD patients and 45 outpatients for health examination were recruited from Shanghai children's hospital between November 2015 and November 2016. Patients were dvided into two groups on the basis of echocardiography, one is KD with CAL and another is KD without CAL. 472 single nucleotide polymorphisms associated with KD susceptibility genes and 512 genes in T cell receptor signaling pathway, toll-like receptor signaling pathway, Cytokine receptor interaction, TGF-beta signaling pathway were selected as targeted genes, and target exome capture sequencing chip were customized. Then use Illumina HiSeq X10 for high-throughput sequencing. The sequencing datas were used to find out susceptibility genes associated with KD and CAL.
Results
There are 26 susceptibility genes associated with KD and 21 with CAL. RPS6KB, VAV1, ACVR2B and CXCL14 are significantly associated with KD. CCL4TNFRSF12AIFIH1and IL26 are significantly genes of CAL formation. CXCL14(rs1046092) T allele(OR=11.455, 95%CI=1.531-85.736), CXCL14(rs2547) G allele(OR=11.070, 95%CI=1.477-82.972) increased the risk of KD. CCL4(rs1719144) G allele(OR=4.132, 95%CI=1.655-10.316), CCL4(rs1049807) A allele(OR=4.132, 95%CI=1.655-10.316), CCL4 (rs1719152) T allele (OR=3.756,95%CI=1.495-9.437) increased the risk of CAL (P < 0.05).
Conclusions
Targeted sequencing technology can be used in children to evaluate the risk of KD and CAL.