ABSTRACT
Objective:To investigate the association between single nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) and the risk of chronic spontaneous urticaria (CSU) .Methods:A case-control study was conducted. A total of 98 patients with CSU (CSU group) were collected from Department of Dermatology, Affiliated Hospital of Jining Medical University from January to June in 2019, and 148 health checkup examinees (control group) were collected at the same time, all of whom were of Han nationality from Shandong province. Genomic DNA was extracted from venous blood samples, and polymorphic sites rs2431697 (miRNA-146a) , rs57095329 (miRNA-146a) , rs3746444 (miRNA-499) , rs11614913 (miRNA-196a2) and rs895819 (miRNA-27a) were analyzed for SNP genotyping by multiplex PCR amplification and single-base extension. Chi-square test was used to analyze differences in the distribution of alleles, genotypes and genetic models between the two groups, and unconditional logistic regression to analyze the relationship between gene SNPs and the risk of CSU.Results:All samples were successfully genotyped by analysis of the 5 polymorphic sites. The alleles of the miRNA-196a2 SNP rs11614913 were T/C, and the absolute frequency of T allele was 110 (56.1%) in the CSU group and 131 (44.3%) in the control group; there was a significant difference in the T/C allele frequency distribution between the two groups ( χ2 = 6.64, P = 0.010) , and the T allele might be a risk factor for CSU ( OR=1.61, 95% CI: 1.12-2.32) . In addition, the absolute frequencies of CC, CT and TT genotypes of rs11614913 were 16 (16.3%) , 54 (55.1%) , 28 (28.6%) in the CSU group, and 48 (32.4%) , 69 (46.6%) , 31 (20.9%) in the control group respectively, and there was a significant difference in the genotype distribution between the two groups ( χ2 = 8.16, P = 0.017) ; the distribution of the dominant genetic model (TT + CT vs. CC) also significantly differed between the two groups ( χ2 = 7.95, P = 0.005) , which might increase the risk of CSU ( OR=2.46, 95% CI: 1.30-4.65) . Conclusion:The miRNA-196a2 SNPs may be associated with the risk of CSU in the Han population in Shandong, China, and the rs11614913 polymorphism may increase the risk of CSU.
ABSTRACT
Background and purpose:miR-196a2 functions as an oncogene during tumor initiation and pro-gression. The up-regulation promotes tumor cell proliferation, invasion and metastasis. Therefore, it is promising to be an important tumor biomarker. The aim of this study was to investigate whether rs11614913, a gene polymorphic site ofmiR-196a2, is associated with the risk of leukemia.Methods:A case-control analysis was employed. Bone marrow or periph-eral blood was collected from 210 leukemia patients diagnosed from Jan. 2009 to Jul. 2015 in Yantaishan Hospital (case group) as well as 250 healthy people who were physically examined during the same period (control group). Polymerase chain reaction-restriction fragment length polymorphism (PCR-PFLP) was used to detect the genotype of rs11614913. Application test was used to compare the difference in the frequency of each genotype between case group and control group. The odds ratio (OR) of SNP allelic genes was calculated using logistic regression analysis and 95%CI represented the risk of leukemia for each genotype.Results:The distribution differences in the frequency of T/T, C/C, C/T genotype of miR-196a2 rs11614913 between case group and control group were statistically significant (P<0.05). The risk of leukemia for individuals who carried mutant homozygous C/C was 2.661-fold higher than those carried wild-type homozygous T/T, and the difference was statistically significant (P<0.05).Conclusion:ThemiR-196a2 gene polymorphic site rs11614913 was associated with the risk of leukemia. Mutant homozygous C/C or C allelic gene carrying was probably a risk factor for leukemia.