| Objective:To explore the distribution characteristics of rs1491034,rs9515692,rs9301654 and rs982873 polymorphisms in the promoter of the mi R-17-92 cluster in Guangxi population,and to compare the differences in genotype and allele frequency of the four loci between gender,and to compare with other races and regions populations.Methods:(1)The genotypes of the rs1491034,rs9515692,rs9301654 and rs982873 polymorphisms of the 397 participants from Guangxi were detected by SNa Pshot SNP genotyping assay and DNA sequencing.(2)Statistical methods were used to analyze the differences in genotype and allele frequency of the four loci between gender and between different races and regions populations.Results:(1)The rs1491034 polymorphism include TT,TC and CC genotypes in the Guangxi population and their frequency are 25.2%,52.6% and 22.2% respectively,and the frequency of T and C alleles are 51.5% and 48.5% respectively.Its genotype and allele frequency were no significantly different between genders(P>0.05),but were significantly different from Hap Map-CEU and Hap Map-YRI population(P<0.01),however were no significantly different from Hap Map-HCB and Hap Map-JPT population(P>0.05).(2)The rs9515692 polymorphism include CC,CT and TT genotypes in the Guangxi population and their frequency are 72.0%,25.2% and 2.8% respectively,and the frequency of C and T alleles are 84.6% and 15.4% respectively.Its genotype and allele frequency were no significantly different between genders,and were significantly different from Hap Map-JPT and Hap MapCEU population(P<0.05),however were no significantly different from Hap Map-HCB and Hap Map-YRI population(P>0.05).(3)The rs9301654 polymorphism include AA,GA and GG genotypes in the Guangxi population and their frequency are 59.2%,35.5% and 5.3%,respectively,and the frequency of A and G alleles are 77.0% and 23.0% respectively.Its genotype and allele frequency were no significantly different between genders,and were no significantly different from Hap Map-HCB,Hap Map-CEU and Hap Map-YRI population(P>0.05).Its genotype frequency was no significantly different from Hap Map-JPT population(P>0.05),however its allele frequency was significantly different from Hap Map-JPT population(P<0.05).(4)The rs982873 polymorphism include TT,TC and CC genotypes in the Guangxi population and their frequency are 37.5%,48.1% and 14.4%,respectively,and the frequency of T and C alleles are 61.6% and 38.4% respectively.Its genotype and allele frequency were no significantly different between genders,but were significantly different from Hap Map-JPT and Hap Map-YRI population(P<0.05),however were no significantly different from Hap Map-HCB population(P>0.05).Conclusion:(1)There are rs1491034,rs9515692,rs9301654 and rs982873 polymorphisms in Guangxi population.(2)The genotype and allele frequency rs1491034,rs9515692,rs9301654 and rs982873 polymorphisms are no significantly different between genders in Guangxi population.(3)The genotype and allele frequency rs1491034,rs9515692,rs9301654 and rs982873 polymorphisms in Guangxi population are different degrees of difference when compared with different races and regions population.Objective:(1)To explore the association between rs1491034,rs9515692,rs9301654 and rs982873 polymorphisms in the promoter of the mi R-17-92 cluster and susceptibility to ischemic stroke.(2)To detcect the expression of the mi R-17-92 cluster in the ischemic group and the control group in peripheral blood mononuclear cells,and to analyze the association between polymorphisms in the promoter of the mi R-17-92 cluster and the expression of the mi R-17-92 cluster.Methods:(1)The genotypes of the rs1491034,rs9515692,rs9301654 and rs982873 polymorphisms of the 397 controls and 398 ischemic stroke patients were genotyped by SNa Pshot SNP genotyping assay and DNA sequencing.(2)The expression of the mi R-17-92 cluster in the ischemic stroke group and the control group in human peripheral blood mononuclear cells were detected by real-time PCR.Results:(1)The rs9301654 polymorphism include AA,GA and GG genotypes in both the control group and the ischemic stroke group in Guangxi population;individuals with GA or GG genotypes present a lower risk to develop ischemic stroke compare with the AA genotype(AA vs.GA: OR=0.63,95% CI,0.41~0.97,P=0.037;AA vs.GG: OR=0.23,95% CI,0.07~0.78,P=0.018).(2)Individuals with rs9301654 G allele has lower risk to develop ischemic stroke compared with the rs9301654 A allele(A vs.G: OR=0.58,95% CI,0.40~0.83,P=0.003).(3)Moddle analysis shows that dominant model(GA+GG vs.AA)and recessive model(GA+AA vs.GG)of rs9301654 polymorphism were associated with significantly decreased risk of ischemic stroke(GA + GG vs.AA: OR=0.57,95% CI,0.38~0.87,P=0.009;GA+AA vs.GG: OR=0.27,95% CI,0.08~0.89,P=0.032).(4)Haploptype analysis shows that the CCAT and TCAT haploptypes are the two main haploptypes,and the risk to develop ischemic stroke decrease in individuals with TCGC haploptype(OR=0.54,95% CI,0.36~0.79,P=0.002).(5)The expression of mi R-17-5p in peripheral blood mononuclear cells of ischemic stroke patients were significantly higher than the control group(P<0.01),while the expression of mi R-19a-3p were significantly lower than the control group(P<0.01).Further analysis revealed that ischemic stroke patients with rs9301654 GG or GA genotype had significantly lower expression of mi R-19a-3p in peripheral blood mononuclear cells compared with the AA genotype(P<0.01).(6)The genotypes,alleles,and model of rs1491034,rs9515692 and rs982873 polymorphisms were no significantly different between ischemic stroke group and the control group(P>0.05).Conclusion:(1)The rs9301654 G allele,GA and GG genotypes,dominant and recessive models,and the TCGC haploptype play a protective role in the development of ischemic stroke.(2)The expression of mi R-17-5p and mi R-19a-3p in the peripheral blood mononuclear cells of ischemic stroke patients are significantly different from the control group,and this may be potential biomarker or therapeutic target for ischemic stroke.(3)The rs9301654 polymorphism may play its protective role by decreasing the levels of mi R-19a-3p.(4)rs1491034,rs9515692 and rs982873 polymorphisms may not associate with the susceptibility of ischemic stroke in Guangxi population. |
