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A Comprehensive Integration of Data on the Association of Itpkc Polymorphisms With Susceptibility to Kawasaki Disease: A Meta-Analysis Publisher Pubmed



Habibi A1 ; Talebi H2 ; Bahrami R3 ; Golshantafti M4 ; Shahbazi A5 ; Dastgheib SA6 ; Tahooni A7 ; Vafapour M8 ; Rashnavadi H9 ; Pourkazemi M10 ; Yeganegi M11 ; Sheikhpour E12 ; Neamatzadeh H13
Authors
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Authors Affiliations
  1. 1. Department of Pediatrics, Hakim Children Hospital, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Clinical Research Development Unit, Fatemieh Hospital, Hamadan University of Medical Sciences, Hamadan, Iran
  3. 3. Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  4. 4. Department of Pediatrics, School of Medicine, Islamic Azad University of Yazd, Yazd, Iran
  5. 5. Student Research Committee, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran
  6. 6. Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  7. 7. Department of Cardiology, Firoozgar Hospital Research Center, Iran University of Medical Sciences, Tehran, Iran
  8. 8. Department of Pediatrics, Firoozabadi Clinical Research Development Unit, Iran University of Medical Sciences, Tehran, Iran
  9. 9. Student Research Committee, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  10. 10. Student Research Committee, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  11. 11. Department of Obstetrics and Gynecology, Iranshahr University of Medical Sciences, Iranshahr, Iran
  12. 12. Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  13. 13. Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Source: BMC Medical Genomics Published:2025


Abstract

Background: This study aims to conduct a comprehensive meta-analysis of existing research to define clear associations between variations in the ITPKC gene and the risk of developing Kawasaki disease (KD). Methods: A comprehensive search was conducted across multiple databases, including but not limited to PubMed, Scopus, EMBASE, and CNKI, up to June 1, 2024, to gather relevant information. This search utilized keywords and MeSH terms related to hyperbilirubinemia and genetic factors. The inclusion criteria encompassed original case-control, longitudinal, or cohort studies. Correlations were analyzed as odds ratios (ORs) with 95% confidence intervals (CIs) using Comprehensive Meta-Analysis software. Results: Eighteen case-control studies with 5,434 KD cases and 9,419 controls were analyzed. Of these, ten studies assessed 3,129 KD cases and 6,172 controls for the rs28493229 variant, four examined 1,039 cases and 1,688 controls for the rs2290692 variant, two focused on 595 cases and 820 controls for the rs7251246 variant, and two investigated 671 cases and 739 controls for the rs10420685 variant. Results showed a significant association between the rs28493229 polymorphism and increased KD risk across all five genetic models. Subgroup analysis indicated this polymorphism correlates with KD susceptibility in Asians but not in the Chinese population. In contrast, no associations were found between the rs2290692, rs7251246, and rs10420685 polymorphisms and KD risk. Conclusions: Our pooled data indicate a significant association between the ITPKC rs28493229 polymorphism’s minor allele and an increased risk of developing KD, suggesting this variant may enhance susceptibility. Conversely, SNPs rs2290692, rs7251246, and rs10420685 do not demonstrate a statistically significant relationship with KD. © The Author(s) 2025.
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