| Objective:To investigate the differences in the rs2395158 and 1,4,5-trisphosphate 3-kinase C(inositol 1,4,5-trisphosphate 3-kinase C,ITPKC)genotypes of the butyrophilin-like 2(BTNL2)gene in children with Kawasaki disease(KD)and healthy children at the same time.kinase C,ITPKC)gene rs28493229 genotype frequencies,and to analyze whether the two loci correlate with the onset of Kawasaki disease and coronary artery damage.Methods:In this study,blood samples were randomly collected from the pediatric inpatient department,outpatient clinic,and child health clinic of the People’s Hospital of Inner Mongolia Autonomous Region,in which 60 children with Kawasaki disease were selected in the case group and 60 children with healthy physical examination were randomly selected in the control group at the same time,and the case group was distinguished into coronary artery lesions(CALs)according to the presence or absence of coronary artery lesions(CALs)The group was divided into 18 cases with coronary artery lesions(CALs)and 42 cases without coronary artery lesions(NCALs).Peripheral blood was collected from the case and control groups,and the BTNL2 gene SNP locus rs2395158 and ITPKC gene SNP locus rs28493229were detected using 1st generation gene sequencing.cardinality tests were performed using SPSS25.0 software to compare the genotypes of the above two loci in different groups.Results:SNP rs28493229 of ITPKC gene was detected in all the subjects,and there were GC,GG genotypes in the SNP rs28493229.SNP rs2395158 of BTNL2 gene was detected in all the subjects,there were three genotypes of AA,AG and GG in this locus.1.rs28493229 of ITPKC gene was sequenced,15 cases in Kawasaki disease case group were GC type heterozygous mutation,45 cases were GG type,and no CC type variant was detected;4 cases in healthy control group were GC type heterozygous mutation,56 cases were GG type,and no CC type variant was detected;the distribution of genotype frequency of ITPKC gene rs28493229 was obtained by statistical analysis There was a statistically significant difference in the genotype frequency of ITPKC gene rs28493229(~2=7.566,P=0.006),and children carrying GC-type gene were more likely to develop Kawasaki disease.2.Sequencing the BTNL2 gene rs2395158,12 cases of heterozygous mutation of type AG,43cases of type AA and 5 cases of type GG in the Kawasaki disease case group;5 cases of heterozygous mutation of type AG,52 cases of type AA and 3 cases of type GG in the healthy control group;the frequency distribution of genotypes of BTNL2 gene rs2395158 was not significantly different by statistical analysis(~2=4.176,P=0.139).3.There was a statistically significant difference in the frequency distribution of the G and C alleles of the ITPKC gene rs28493229 locus between the case and control groups~2=6.916,P=0.009),and the C allele may increase the risk of KD(OR=4.143,95%CI=1.333 to12.877).4.The frequency distribution of the A and G loci of the BTNL2 gene rs2395158 locus was not statistically different between the case and control groups(~2=1.781P=0.182).5.The frequency distribution of GG,GC genotypes at locus rs28493229 of ITPKC gene was not statistically different between CAL and NCAL groups~2=0.611,P=0.435).6.The frequency distribution of C and G alleles at the ITPKC gene rs28493229 locus was not statistically different between the CAL and NCAL groups(~2=0.523,P=0.469).7.The difference in the frequency distribution of AA,AG and GG genotypes at the rs2395158locus of the BTNL2 gene between the CAL and NCAL groups was statistically significant(~2=6.195,P=0.045),and the AA genotype may increase the risk of KD combined with CALs in this region(OR=4.846,95%CI=0.878 to 26.742).8.There was a statistically significant difference in the frequency distribution of the A and G alleles at the rs2395158 locus of the BTNL2 gene between the CAL and NCAL groups(~2=6.461,P=0.011);the A allele may increase the risk of KD combined with CALs(OR=2.948,95%CI=1.261 to 7.064).Conclusions:1.the ITPKC gene rs28493229 locus was significantly associated with KD susceptibility in our region,and the GC genotype was more likely to develop KD.2.The G and C alleles of the ITPKC gene rs28493229 locus were significantly associated with KD susceptibility in our region,and the C allele may increase the risk of KD combined with CALs.3.rs2395158AG,AA and GG genotypes of BTNL2 gene were not significantly associated with the development of KD in our region.4.There was no significant association between the A and G loci of BTNL2 gene rs2395158and the development of KD in our region.5.The SNPAA genotype at rs2395158 locus of BTNL2 gene significantly increased the risk of KD combined with CALs,carrying the A allele may increase the probability of KD combined with CALs. |