| Objective:The study aims to investigate the distribution of polymorphisms of rs9515692C/T,rs1352743A/G and 1813389A/G in the promoter region of miR-17-92 gene in Guangxi population.In addition,differences in genotype frequency and allele frequency distribution between them and other different populations were compared.Methods:The genotypes of rs9515692C/T,rs1352743A/G and 1813389A/G of 275 subjects were analyzed by SNaPshot.At the same time,the DNA sequencing technology was used to verify the above results.Finally,SPSS 17.0 statistical software was used to compare the frequency distribution of different genders and groups.Results:There were three genotypes of CC,CT and TT in rs9515692C/T,and the distribution frequencies were 65.8%,29.1%,and 5.1%,respectively.The rs9515692C/T genotypes were compared with the data published by the 1000 Genomes.It is statistically significant that the frequency distribution of Guangxi population,Africans(P=0.013),Americans(P<0.001),Europeans(P<0.001)and South Asians(P<0.001).In the comparison of allele frequencies,it was found to be statistically significant among Guangxi population,Africans(P=0.002),Americans(P<0.001),Europeans(P<0.001)and South Asians(P<0.001).rs1352743A/G has three genotypes of AA,AG,and GG,and the distribution frequencies are 12.7%,49.1%,and 38.2%,respectively.The difference was statistically significant when the genotype frequency of Guangxi population was compared with Africans(P<0.001),Americans(P<0.001),Japanese(P<0.001),Europeans(P<0.001),South Asians(P<0.001)published by the 1000 Genomes.In the comparison of allele frequencies,the differences were found in the data of Guangxi population and Africa(P<0.001),Americans(P<0.001),Beijing population(P=0.020),Japanese(P<0.001),Europeans(P<0.001).South Asians(P<0.001).There are three genotypes of AA,AG and GG in rs1813389A/G,and the distribution frequencies are 40.0%,50.2%and 9.8%,respectively.The genotype distribution frequency was different with the data of Africans(P<0.001),Americans(P<0.001),Beijing population(P=0.005),Japanese(P<0.001),Europeans(P<0.001)and South Asians(P<0.001)published by the 1000 Genomes.In the comparison of allele frequencies,the data difference was found in Guangxi population and Africa(P<0.001),Americans(P<0.001),Beijing population(P=0.003),Japanese(P<0.001),Europeans(P<0.001)and South Asians(P<0.001)Conclusion:There were polymorphisms of rs1813389A/G,rs9515692C/T and rs1352743A/G sites in Guangxi population.It was no difference between different sexes,but there were some differences between Guangxi population and other groupsObjective:To investigate the association between polymorphisms of miR-17-92 promoter SNPs and systemic lupus erythematosus.The relationship between the polymorphisms and the expression of miR-17-92 and clinical and laboratory data of systemic lupus erythematosus was further analyzed.Methods:A total of 312 SLE patients and 396 controls were selected as the subjects.The rs9515692C/T,rs1352743A/G and rs1813389A/G of miR-17-92 gene promoter region were genotyped by SNaPshot.Meanwhile,the DNA sequencing technology was used to prove the genotype results.Additionally,the levels of miR-17-92 members in the SLE group and the healthy group were detected by real-time PCR.The relationship between clinical data and polymorphisms of the sites was statistically analyzed.The haplotype distributions of the two groups were analyzed using online analysis software(SHEsis software).Results:There was a difference in the distribution of rs9515692C/T polymorphism between SLE group and control group.The distribution of CT gene and CT+TT genotype frequency between SLE group and control group was statistically significant(P=0.014;P=0.009).In addition,the distribution of the T allele frequency between the two groups was also statistically significant(P=0.010).The haplotype analysis showed that the distribution of C-G-G haplotype and C-A-A haplotype was statistically significant(P<0.001;P<0.001).The expression level of miR-17 in the rs9515692C/T and CT+TT genotype was higher than that in the CC genotype(P=0.017).Moreover,the frequency distribution of CT+TT genotype and T allele was related to anti-dsDNA of SLE(P=0.002;P=0.003).Conclusion:miR-17 is abnormal expression in systemic lupus erythematosus.rs9515692C/T genotype,T allele and the dominant model reduce the risk of systemic lupus erythematosus and the anti-dsDNA,and may play a protective role through the expression of mir-17.The C-G-G and C-A-A haplotypes of three SNPs increase the risk of systemic lupus erythematosus. |