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CD40 gene polymorphism and its expression in children with Kawasaki disease from North India: a preliminary
Pratap Kumar Patra1, Ankur Kumar Jindal2, Rashmi Rikhi2
1Department of Pediatrics, All India Institute of Medical Sciences, Patna, India.
Insights
This study investigated CD40 gene single-nucleotide polymorphisms (SNPs) in Indian children with Kawasaki disease (KD). While no direct association was found in the local cohort, a meta-analysis revealed a significant link between a specific CD40 SNP and KD susceptibility.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- Single-nucleotide polymorphisms (SNPs) in the CD40 gene are linked to Kawasaki disease (KD) and coronary artery abnormalities (CAAs) in East Asian populations.
- Limited data exists on CD40 gene SNPs in KD patients from the Indian subcontinent.
Purpose of the Study:
- To investigate CD40 gene polymorphisms and expression in North Indian children with KD.
- To assess the association of CD40 gene SNPs with KD susceptibility and CAA development.
Main Methods:
- Sanger sequencing was used to analyze CD40 gene SNPs (rs1870098 and rs4810485).
- Flow cytometry assessed CD40 expression levels.
- A meta-analysis combined current findings with existing literature.
Main Results:
- No significant association was found between the studied CD40 SNPs (rs1870098 and rs4810485) and KD susceptibility in the Indian cohort.
- CD40 expression was elevated in KD patients, including those with CAAs, but did not reach statistical significance.
- Meta-analysis indicated a significant association between the T allele of rs1870098 and KD (OR=1.28, p=0.002), though with very low certainty of evidence.
Conclusions:
- The study found no direct association between specific CD40 SNPs and KD susceptibility in North Indian children, potentially due to sample size.
- Elevated CD40 expression in KD patients warrants further investigation.
- A significant association between a CD40 SNP (rs1870098) and KD was observed in the meta-analysis, highlighting ethnic genetic heterogeneity in KD.
Introduction:
CD40 gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the CD40 gene in patients with KD from the Indian subcontinent are not available. We studied the CD40 gene polymorphisms and its expression in children with KD from North India.
Methods:
SNPs of the CD40 gene (, were studied using Sanger sequencing. CD40 expression was studied by flow cytometry. Meta-analysis was carried out to assess the role of both SNPs of the CD40 gene in KD. GRADEpro GDT software (v.3.2) was used to assess the "certainty of evidence."
Results:
Forty-one patients with KD and 41 age-, sex-matched febrile controls were enrolled. However, none of the alleles and genotypes of the CD40 gene were found to be associated with KD. CD40 expression was higher in KD and in KD with CAAs compared to controls, but it failed to reach statistical significance. In a meta-analysis, the T allele of was found to be significantly associated with KD (OR = 1.28; 95% confidence interval (: 1.09-1.50; p = 0.002). The GRADE of evidence for this outcome, however, is of " very low certainty."
Conclusion:
The present study found no association between SNPs ( and ) and susceptibility to KD. This could be a reflection of a modest sample size. CD40 expression was higher in KD and in KD with CAAs. In the meta-analysis, the T allele of was significantly associated with KD. Our study confirms a significant genetic heterogeneity in KD among different ethnicities.
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