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<p>Kawasaki disease (KD) is the leading cause of acquired heart disease in children in developed countries. The exact aetiology remains a mystery but genetics play an important role. Treatment with intravenous immunoglobulin (IVIG) successfully reduces the prevalence of coronary artery aneurysm (CAA) formation, however, IVIG resistance affects 10–20% of patients. We aimed to assess whether single nucleotide polymorphisms (SNPs) which have been associated with KD in other populations are also relevant in our national cohort. Samples were collected via buccal swabs and genotyping was performed using KASP Genotyping Assay at LGC Genomics. Chi-square (<i>χ</i><sup>2</sup>) analysis or <i>χ</i><sup>2</sup> analysis for trend were used to examine genotype distributions and allele frequencies. Numerical variables were compared between two groups using the Mann–Whitney <i>U</i>-test and the Kruskal–Wallis test for groups of 3 or more. Of the 39 patients included, the majority were cases of typical KD (82%). A third developed CAA and 31% demonstrated IVIG resistance. Participants harboring the AA genotype of <i>VEGFA</i> rs699947 had a significantly reduced association with coronary lesions and IVIG resistance. Analysis of the <i>CD40</i> rs1569723 (A/C) revealed an increased risk associated with the C allele for coronary artery lesions and IVIG resistance. We performed the first evaluation of the genetic profile of patients with KD in Ireland. We found that the <i>VEGFA</i> rs699947 C/A polymorphism is protective while the <i>CD40</i> rs1569723 A/C polymorphism harbors increased risk. This study is the first to correlate the <i>VEGFA</i> rs699947 polymorphism with KD outcomes in the literature.</p>

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Single Nucleotide Polymorphisms and Their Association with Coronary Artery Aneurysms and IVIG Resistance in Kawasaki Disease in Ireland

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月8日

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  • S. M. Duignan,
  • K. Brennan,
  • E. Connolly,
  • A. Watson,
  • D. Noone,
  • E. Dunne,
  • P. Gavin,
  • A. Flinn,
  • C. Ó′Maoldomhnaigh,
  • S. L. Doyle,
  • C. J. McMahon

摘要

Kawasaki disease (KD) is the leading cause of acquired heart disease in children in developed countries. The exact aetiology remains a mystery but genetics play an important role. Treatment with intravenous immunoglobulin (IVIG) successfully reduces the prevalence of coronary artery aneurysm (CAA) formation, however, IVIG resistance affects 10–20% of patients. We aimed to assess whether single nucleotide polymorphisms (SNPs) which have been associated with KD in other populations are also relevant in our national cohort. Samples were collected via buccal swabs and genotyping was performed using KASP Genotyping Assay at LGC Genomics. Chi-square (χ2) analysis or χ2 analysis for trend were used to examine genotype distributions and allele frequencies. Numerical variables were compared between two groups using the Mann–Whitney U-test and the Kruskal–Wallis test for groups of 3 or more. Of the 39 patients included, the majority were cases of typical KD (82%). A third developed CAA and 31% demonstrated IVIG resistance. Participants harboring the AA genotype of VEGFA rs699947 had a significantly reduced association with coronary lesions and IVIG resistance. Analysis of the CD40 rs1569723 (A/C) revealed an increased risk associated with the C allele for coronary artery lesions and IVIG resistance. We performed the first evaluation of the genetic profile of patients with KD in Ireland. We found that the VEGFA rs699947 C/A polymorphism is protective while the CD40 rs1569723 A/C polymorphism harbors increased risk. This study is the first to correlate the VEGFA rs699947 polymorphism with KD outcomes in the literature.