Key result
The rs3921/rs4386624 C/G haplotype is linked to ~5.5-fold higher Kawasaki disease risk versus G/C carriers.
Why the study?
The immune system's involvement in Kawasaki disease pathogenesis is suggested, but the association between IP10 gene polymorphisms and KD risk was unclear.
Are genetic polymorphisms of IP10 associated with the risk of Kawasaki disease?
Case-Control (n=2,063)
Are genetic polymorphisms of IP10 associated with the risk of Kawasaki disease?
Odds Ratio: 5.48
Genetic polymorphisms of IP10, specifically the C/G haplotype of rs3921/rs4386624, are associated with an increased risk of Kawasaki disease.
Supports IP10 variants as Kawasaki disease risk candidates; leaves open replication and functional validation before any clinical use.
BACKGROUND: Kawasaki disease (KD) is an acute systemic vasculitis syndrome with unknown pathogen. The immune system has been suggested to involve in the pathogenesis in KD. IP10 is a chemoattractant for initiating T-cell activation. The aim of this study was to investigate the association between genetic polymorphisms of IP10 and KD. METHODS: A total of 354 KD patients and 1,709 control subjects (709 subjects in cohort 1 and 1,000 subjects in cohort 2) were enrolled in this study. Four tagging single nucleotide polymorphisms (rs3921, rs4256246, rs4508917, and rs4386624) were chosen for genotyping. RESULTS: Our results indicated that CC genotype of rs3921 and GG genotype of rs4386624 had higher frequency in KD patients compared to control. In addition, higher plasma IP10 level was observed in CC genotype of rs3921 than CG genotype and GG genotype. C/G haplotype carriers of rs3921/rs4386624 had 5.48-fold risk for KD compared to G/C haplotype carriers. Two-locus analysis further showed the combinatorial effects of rs3921 and rs4386624 in KD susceptibility. CONCLUSIONS: This study indicated the close correlation between IP10 and the risk of Kawasaki disease.
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Hsu et al. (2020) conducted a case-control in Kawasaki disease (n=2,063). IP10 gene polymorphisms (rs3921 and rs4386624) vs. Control subjects / other genotypes was evaluated on Risk of Kawasaki disease (5.48-fold risk). C/G haplotype carriers of rs3921/rs4386624 had a 5.48-fold increased risk for Kawasaki disease compared to G/C haplotype carriers.
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