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ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 12 - 2024 | doi: 10.3389/fped.2024.1400123

Whole-Exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion

Provisionally accepted
Yazhou Wang Yazhou Wang Xuepeng Chen Xuepeng Chen Dufei Zhang Dufei Zhang Renwei Chen Renwei Chen Ailixiati Alifu Ailixiati Alifu *
  • Hainan Women and Children's Medical Center, Haikou, Hainan Province, China

The final, formatted version of the article will be published soon.

    This study aimed to explore Kawasaki disease (KD) susceptibility genes and their complications like coronary artery lesions (CAL) using whole exome sequencing (WES). Methods: Between April 1, 2021, and December 31, 2022, our study included 55 pediatric patients diagnosed KD at our center, alongside a cohort of healthy children who sought medical care at our institution during the same timeframe. We extracted peripheral blood DNA from all participants and employed the advanced high-throughput Illumina Next-Generation Sequencing technology for comprehensive analysis. Through bioinformatics evaluation, we identified potential susceptibility genes. Moreover, from the 55 KD patients, we selected 15 for the CAL group and 40 for the non-CAL group. We aimed to investigate whether there were significant differences in the allele frequencies of the targeted susceptibility genes between these subgroups, to explore the risk alleles associated with the development of CAL in KD. Results: HLA-DRB1 rs17882084 and IL6ST rs781455079 genotypes and alleles differed significantly between KD and non-KD (P<0.05). No differences existed for IL17RC rs143781415 and VEGFB rs776229557 (P>0.05). No differences in HLA-DRB1 rs17882084, IL6ST rs781455079, and VEGFB rs776229557 genotypes existed between CAL and non-CAL groups (P>0.05). However, the IL17RC rs143781415 genotype differed significantly between them (P<0.05). Conclusions: HLA-DRB1 rs17882084 and IL6ST rs781455079 genotypes may be potential KD susceptibility gene candidates. Specifically, HLA-DRB1 rs17882084 GA genotype and A allele, and IL6ST rs781455079 TC genotype and C allele may increase KD risk. Additionally, the IL17RC rs143781415 genotype may increase CAL risk in KD patients.

    Keywords: kawasaki disease, whole exome sequencing, Coronary artery lesions, Susceptibility genes, pediatrics - children

    Received: 13 Mar 2024; Accepted: 27 Aug 2024.

    Copyright: © 2024 Wang, Chen, Zhang, Chen and Alifu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Ailixiati Alifu, Hainan Women and Children's Medical Center, Haikou, Hainan Province, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.