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Lack of an association between E-selectin gene polymorphisms and risk of Kawasaki disease

Toshihiko Shirakawa1, Kazuyuki Ikeda, Shinji Nishimura

  • 1Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan. tshiraka@nagasaki-u.ac.jp

Pediatrics International : Official Journal of the Japan Pediatric Society
|March 15, 2012
PubMed

Insights

This study found no link between specific E-selectin gene (SELE) variations and coronary artery lesions (CAL) in Kawasaki disease (KD) patients. Further research with larger sample sizes is recommended to confirm these findings for Kawasaki disease susceptibility.

Area of Science:

  • Genetics
  • Pediatrics
  • Immunology

Background:

  • Coronary artery lesions (CAL) are a significant complication of Kawasaki disease (KD).
  • Elevated E-selectin levels in acute KD and E-selectin gene (SELE) polymorphism associations in adult coronary artery disease suggest a potential link to CAL in KD.
  • Investigating SELE polymorphisms may elucidate their role in KD pathogenesis and CAL development.

Purpose of the Study:

  • To investigate the association between two single nucleotide polymorphisms (SNPs) in the E-selectin gene (SELE) and the development of coronary artery lesions (CAL) in patients with Kawasaki disease (KD).

Main Methods:

  • Genotyping of two SELE SNPs (98G>T and Ser128Arg) in 177 KD patients (59 with CAL, 118 without CAL) and 305 healthy controls.
  • Direct sequencing and high-resolution melting curve analysis were used for SNP genotyping.
  • Allele frequencies were compared using the chi-squared test.

Main Results:

  • No significant differences in the T allele frequency of SELE 98G>T were observed between KD patients and controls, nor between KD patients with and without CAL.
  • Similarly, no significant differences in the C allele (128Arg) frequency of SELE Ser128Arg were found when comparing KD patients to controls or KD patients with and without CAL.
  • The low frequency of minor alleles and limited sample size may have impacted the statistical power to detect associations.

Conclusions:

  • The studied SELE polymorphisms (98G>T and Ser128Arg) do not appear to be associated with the prevalence of KD or the development of CAL in this cohort.
  • Study limitations, including a small sample size and low minor allele frequencies, necessitate caution in interpreting these results.
  • Larger-scale genetic association studies are required to definitively determine the role of these SELE SNPs in KD susceptibility and CAL development.
Abstract

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