Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India

Abstract

Background: Kawasaki disease is a pediatric, systemic, vasculitic disorder. Its exact etiology is still unknown. Genetic polymorphisms are being investigated as susceptibility factor for this disorder. These are likely to vary among different populations. Aim: To investigate the association of single nucleotide polymorphism (SNP) rs113420705 of CASP3 in Kawasaki disease (KD) from North India. Settings and Design: Observational, case–control study. Methods: Polymerase chain reaction and bidirectional Sanger sequencing was used for determining genotypes of SNP rs113420705 in 45 cases of KD and 50 healthy age- and sex-matched controls. Allele and genotype frequencies were assessed and compared between the groups. Results: Among 45 cases, 32 had TT (71.1%), 13 had CT (28.9%) and none had CC genotype of SNP rs113420705. No significant differences in allele, genotype, or carrier frequencies of rs113420705 were found between the two groups. A comparison was also made between subgroups of KD with coronary abnormality (7 children; 15.5%) and KD with normal coronaries (38 children; 84.4%). The C allele was significantly overexpressed in KD with coronary abnormality group ( P = 0.005). However, no difference was noted in the genotype frequencies. Conclusion: CT genotype of rs113420705 of CASP3 showed a trend to significance with the occurrence of KD in children in North India. However, we could not establish any association between minor allele C and susceptibility to KD. C allele appeared to be over expressed in children with KD with coronary abnormalities. Larger studies will help us to reach conclusive evidence applicable to all ethnicities.

The Relationship between COVID-19 Severity in Children and Immunoregulatory Gene Polymorphism

“…Alterations in CASP3 expression lead to increased susceptibility to KD in European American and Asian populations [ 68 ]. A case–control study in North India demonstrated that persons with the CT genotype rs113420705 of CASP3 are more prone to have KD, and carriers of minor allele C most often have coronary artery aneurysm compared with T allele carriers [ 73 ]. Our study showed a significantly higher frequency of allele C rs113420705 in children with COVID-19 compared to those of European ancestry.…”

Genes Polymorphisms and Their Association with COVID-19 Severity in Children

“…Alterations in CASP3 expression lead to increased susceptibility to KD in European American and Asian populations [68]. A casecontrol study in North India demonstrated that persons with the CT genotype rs113420705 of CASP3 are more prone to have KD, and carriers of minor allele C most often have coronary artery aneurysm compared with T allele carriers [73]. Our study showed a significantly higher frequency of allele C rs113420705 in children with COVID-19 compared to those of European ancestry.…”