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The Research On SNP Of Both SLC8A1 Gene Rs13017968 And ORAI1 Gene Rs3741596 In Kawasaki Disease

Posted on:2023-05-18Degree:MasterType:Thesis
Country:ChinaCandidate:Y X ZhangFull Text:PDF
GTID:2544306845971479Subject:Academy of Pediatrics
Abstract/Summary:PDF Full Text Request
Objective:The purpose of this study was to explore the association between single nucleotide polymorphism(SNP)of SLC8A1 gene rs13017968 and ORAI1 gene rs3741596 in Kawasaki disease(KD)and Coronary artery lesions(CALs)in the middle and western regions of Inner Mongolia Autonomous Region.And the potential association between SLC8A1 gene rs13018968 and ORAI1 gene rs3741596 in Kawasaki disease was analyzed.Methods:In this study,85 children diagnosed with Kawasaki disease in Inner Mongolia Autonomous Region People’s Hospital from October 2020 to October 2021were selected as the case group,and 100 healthy children who underwent physical examination in our hospital during the same period were selected as the control group.The case group was further divided into CAL group and NCAL group according to whether there was CALs or not.The peripheral blood DNA of all samples was extracted,and the single nucleotide polymorphisms of SLC8A1 gene rs13017968 and ORAI1 gene rs3741596 were detected by PCR and direct sequencing techology.Pearson’s Chi-square test or Fisher’s exact probability test was used to first compare the differences in genotype frequency and allele frequency of SLC8A1 gene rs13017968 and ORAI1 gene rs3741596 between the case group and the control group.Then,the differences of genotype frequency and allele frequency of SLC8A1gene rs13017968 and ORAI1 gene rs3741596 in CAL and NCAL group were further compared.Finally,the column association number was used to evaluate the correlation between SLC8A1 gene rs13017968 and ORAI1 gene rs3741596 in Kawasaki disease susceptibility.Results:In this study,SLC8A1 gene rs13017968 SNP,including three kinds of genotypes(AA,AC,CC),was detected in all subjects.ORAI1 gene rs3741596SNP,including three kinds of genotypes(AA,AG,GG),was detected in all subjects.1.The difference in genotype frequency distribution of AA,AC and CC at the SLC8A1 gene rs13017968 between the KD case and control groups was not statistically significant(χ~2=5.380,P=0.068),but the difference in genotype frequency distribution after grouping AA and AA+CC was statistically significant(χ~2=4.144,P=0.042).2.The difference in the frequency distribution of the A and C alleles at the SLC8A1 gene rs13017968 between the KD case and control groups was not statistically significant(χ~2=1.392,P=0.238).3.The difference in the frequency distribution of AA,AG,and GG genotypes at the ORAI1 gene rs3741596 between the KD case group and the control group was not statistically significant(χ~2=0.275,P=0.871).4.The difference in the frequency distribution of the A and G alleles at the ORAI1 gene rs3741596 between the KD case and control groups was not statistically significant(χ~2=0.001,P=0.974).5.The differences in the frequency distribution of AA,AC and CC genotypes at the SLC8A1 rs13017968 between the CAL and NCAL groups were not statistically significant(χ~2=0.043,P=0.979).6.The difference in the frequency distribution of the A and C alleles at the SLC8A1 gene rs13017968 between the CAL and NCAL groups was not statistically significant(χ~2=0,P=0.993).7.The difference in the frequency distribution of AA,AG and GG genotypes at the ORAI1 gene rs3741596 between the CAL and NCAL groups was statistically significant(χ~2=7.507,P=0.023),and the ORAI1 gene rs3741596 is associated with susceptibility to KD combined with CALs;the AA genotype may increase the risk of KD with CALs in this region(OR=4.333,95%CI=1.451~12.945).8.The difference in the frequency distribution of A and G alleles at the rs3741596 locus of the ORAI1 gene between the CAL and NCAL groups was statistically significant(χ~2=6.507,P=0.011).And carrying A allele may increase the risk of KD with CALs(OR=2.939,95%CI=1.253~6.896),G allele may decrease the risk of KD with CALs(OR=0.340,95%CI=0.145~0.798).9.There was no significant correlation between SLC8A1 gene rs13017968 and ORAI1 gene rs3741596 in KD(contingency coefficient=0.237,P=0.281)and KD with CALs(contingency coefficient=0.484,P=0.213).Conclusion:1.The single nucleotide polymorphism of rs13017968 in SLC8A1 gene is may be associated with the susceptibility of KD in Middle and Western Inner Mongolia,and the AA genotype may increase the risk of KD in this area.2.The single nucleotide polymorphism of rs3741596 in ORAI1 gene is may be associated with the susceptibility of KD with CALs in Middle and Western Inner Mongolia;and the AA genotype may increase the risk of KD with CALs;A allele may increase the risk of KD with CALs,and G allele may decrease the risk of KD with CALs in this region.3.At present,there are no sufficient evidence supporting the combinatiorial association between SLC8A1 gene rs13017968 and the ORAI1 gene rs3741596 in KD with CALs in Middle and Western Inner Mongolia.
Keywords/Search Tags:Kawasaki disease, SLC8A1, ORAI1, gene, single nucleotide polymorphism
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