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The Research On SNP Of Both ITPKC Gene Rs7251246 And SLC8A1 Gene Rs 13017968 In Kawasaki Disease

Posted on:2024-01-04Degree:MasterType:Thesis
Country:ChinaCandidate:H SunFull Text:PDF
GTID:2544307127974239Subject:Academy of Pediatrics
Abstract/Summary:PDF Full Text Request
Objective:The purpose of this study was to investigate inositol single nucleotide polymorphism(SNP)at rs13017968 in the 1,4,5-triphosphate 3-kinase(ITPKC)gene and the rs7251246 in the solute carrier family 8 member 1(SLC8A1)gene are associated with Single-nucleotide polymorphism Inner Mongolia Midwestern Sectional Figure Skating Championships Kawasaki disease(KD)and Coronary artery lesions(CALs),the potential association between KD and CALs was also analyzed.Methods:A total of 80 children with Kawasaki disease(KD)diagnosed in our hospital from November 2020 to November 2022 were selected as the case group,and 95 healthy children in the same period as the control group Case-control study the same method,the patients were divided into coronary artery lesion group(CAL group)and non-coronary artery lesion group(NCAL group)according to the presence or absence of CALs.Peripheral blood DNA was extracted from all collected samples,and polymerase chain reaction SNP rs7251246 and SNP rs13017968 of ITPKC gene and SLC8A1 gene were detected by polymerase chain reaction(PCR)and direct sequencing,pearson’s chi-square test and Fisher’s exact probability test were used to compare the genotype and allele frequencies of the two loci between the case group and the control group,and between the Cal Group and the NCAL Group.Results:SNP rs7251246 of ITPKC gene was detected in all the subjects,and there were CC,CT and TT genotypes in the SNP rs7251246.SNP rs13017968 of SLC8A1 gene was detected in all the subjects,there were three genotypes of AA,AC and CC in this locus.1.The frequencies of CC,CT,TT and genotype at rs7251246 site of ITPKC gene were not significantly different between case group and control group(χ~2=5.920,p=0.052),the frequencies of CC and CT+TT genotypes were significantly different(χ~2=5.902,p=0.015).CC genotype may increase the probability of KD(OR=2.171,95%CI=1.156-4.079).2.The frequencies of C and T alleles of rs7251246 in ITPKC gene were not significantly different between case and control groups(χ~2=4.184,p=0.051).3.The frequencies of AA,AC and CC genotypes at rs13017968 site of SLC8A1 gene were not significantly different between cases and controls(χ~2=0.252,p=0.881).4.There was no significant difference in the frequency distribution of A and C alleles at rs13017968 in SLC8A1 gene between cases and controls(χ~2=0.114,p=0.736).5.The frequencies of TT,CT and CC of ITPKC gene rs7251246 were not significantly different between Cal and NCAL groups(χ~2=0.034,p=0.983).6.The frequencies of C and T alleles of rs7251246 in ITPKC gene were not significantly different between Cal Group and NCAL Group(χ~2=0.039,p=0.843).7.The frequencies of AA,AC and CC genotypes at rs13017968 in SLC8A1 gene were significantly different between Cal Group and NCAL Group(χ~2=6.846,p=0.033),the results suggest that AA genotype may increase the risk of KD with CALs(OR=1.695,95%CI=1.108~2.593).8.The frequencies of A and C alleles at rs13017968 in SLC8A1 gene were significantly different between Cal Group and NCAL Group(χ~2=6.730,p=0.009).A allele may increase the risk of CALs in patients with KD(OR=1.405,95%CI=1.122~1.759),and C allele may decrease the risk of CALs in patients with KD(OR=0.486,95%CI=0.263~0.898).9.There was no significant correlation between rs7251246 of ITPKC gene and rs13017968of SLC8A1 gene in KD(column coefficient=0.265,p=0.213>0.05)and KD with CALs(column coefficient=0.512,p=0.164).Conclusion:1.The SNP at rs7251246 of ITPKC gene was associated with the incidence of KD in Inner Mongolia Midwestern Sectional Figure Skating Championships,and the genotype of CC was closely associated with the incidence of KD.2.TT,CT and CC genotypes of ITPKC gene rs7251246 were not associated with the incidence of KD and Cal in Inner Mongolia Midwestern Sectional Figure Skating Championships.3.The AA,AC and CC genotypes of SLC8A1 gene rs13017968 were not associated with the susceptibility to KD,but were associated with the Midwestern Sectional Figure Skating Championships of KD with CALs.4.The SNP AA genotype at rs13017968 site of SLC8A1 gene significantly increased the risk of KD complicated with CALs,and the A allele may increase the risk of KD complicated with CALs,whereas the SNP AA genotype at rs13017968 site of SLC8A1gene may increase the risk of KD complicated with CALs,carrying C allele may reduce the incidence of KD with CALs in this area.5.There was no significant correlation between rs7251246 of ITPKC gene and rs13017968of SLC8A1 gene and KD or KD with Cals in Inner Mongolia Midwestern Sectional Figure Skating Championships.
Keywords/Search Tags:Kawasaki disease, ITPKC gene, SLC8A1 gene, Single Nucleotide Polymorphism
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