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Updated: May 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Sorting nexin 24 genetic variation associates with coronary artery aneurysm severity in Kawasaki disease patients

Ying-Ju Lin1, Jeng-Sheng Chang, Xiang Liu

  • 1Department of Medical Research, China Medical University Hospital, Taichung, Taiwan. yjlin.kath@gmail.com.

Cell & Bioscience
|November 26, 2013
PubMed

Insights

Genetic variations in SNX24 are linked to coronary artery aneurysm (CAA) risk in Kawasaki disease (KD). Specific SNX24 polymorphisms may help predict CAA development in KD patients.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Sorting nexin (SNX) proteins are crucial for endocytosis and protein trafficking.
  • The involvement of SNX proteins in Kawasaki disease (KD) and its complications, such as coronary artery aneurysm (CAA), remains unexplored.

Purpose of the Study:

  • To investigate the association between genetic variations in SNX proteins and the risk of CAA formation in KD patients.

Main Methods:

  • Retrospective analysis of clinical data and genotypes from 262 KD patients (76 with CAA, 186 without).
  • Chi-square tests were employed to identify SNX24 genetic variants associated with KD susceptibility and CAA formation.
  • Endothelial cell inflammation was assessed using siRNA knockdown of SNX24 in response to lipopolysaccharide.

Main Results:

  • A significant correlation was found between KD with CAA and the rs28891 single-nucleotide polymorphism in SNX24.
  • Patients with CC+CT genotypes of rs28891 exhibited reduced CAA complications.
  • SNX24 knockdown in endothelial cells decreased the expression of pro-inflammatory cytokines IL-1 beta, IL-6, and IL-8.

Conclusions:

  • SNX24 polymorphisms may serve as valuable genetic markers for diagnosing and predicting CAA formation in KD.
  • These findings highlight the potential role of SNX24 in the pathogenesis of KD-associated vascular complications.
Abstract

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