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
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.