Association Study Of ORAI1 Gene Rs3741596 Single Nucleotide Polymorphism With Kawasaki Disease

Objective:Based on a genome-wide association study about Kawasaki disease(KD),single nucleotide polymorphism(SNP)rs3741596 in Calcium release-activated calcium modulator 1(CRACM1/ORAI1)gene has association with KD susceptibility.There is no republication study to be reported in northern Chinese Han children up to now.With the KD group and health children control group as the research objects,this study was conducted to discuss whether the ORAI1 gene rs3741596 SNP is associted with the onset of KD or with KD merged coronary artery lesions(CALs).Methods:This is a case-control study.The case group included 46 Han children who were diagnosed as KD and hospitalized between February 2016 and June 2016 in Tianjin Children’s Hospital.The control group was composed 25 age and gender matched health children.All subjects in case group were divided into CAL group and NCAL group,according to the presence of CALs.To extrat genomic DNA after collecting peripheral venous blood 2ml from each subject,in order to conducting polymerase chain reaction(PCR)to amplify target gene and direct sequencing.Then,we detected the SNP of ORAI1 gene rs3741596 from all subjects’ genomic DNA and compared the frequencies of genotype and allele at this site in different groups for further statistical analysis.Results:In this study,ORAI1 gene rs3741596 SNP,including three kinds of genotypes(AA,AG,GG),was detected in all subjects.1.Between the KD group and health control group,there was no statistical difference in the genotype frequency distribution of the three genotypes(c 2=0.712,P>0.05).And the frequency of genotype AA is higher than AG and GG in both groups.2.There was no statistical difference in the allele frequency distribution of the three genotype(χ~2=0.499,P>0.05)between the K D group and health control group.3.Between the CAL group and NCAL group,the frequency distribution of the genotype(χ~2=6.891,P=0.038)showed significant differences.And the frequency of genotype AA in C AL group is higher than that in NCAL group.4.The allele frequency distribution of the genotype(χ~2=6.891,P=0.009))showed significant differences between the CAL group and NCAL group.G allele frequency in C AL group is higher than that in NCAL group(OR=4.333),while A allele frequency distribution is opposite(OR=0.678).Conclusions: 1.There are three kinds of genotypes(AA,AG,GG)in ORAI1 gene rs3741596 SNP,which maybe have no correlation with KD susceptibility.2.The ORAI1 gene rs3741596 SNP may be related to KD merged CALs.3.The AA genotype in ORAI1 gene rs3741596 SNP may be the prevention against CALs from KD.4.The G allele of ORAI1 gene rs3741596 SNP may be a risk factor for KD merged CALs,while the A allele may be a protective factor.