Department of Laboratory Medicine, The Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, China.
Mindray North America, 800 MacArthur Boulevard, Mahwah, New Jersey, USA.
J Clin Lab Anal. 2022 Jul;36(7):e24518. doi: 10.1002/jcla.24518. Epub 2022 Jun 16.
Systemic lupus erythematosus (SLE) is a common autoimmune disease, and its pathogenesis remains unclear. The alteration of genetic materials is believed to play a role in SLE development. This study evaluated the association between the genetic variants of microRNA-21 (miR-21) and microRNA-155 (miR-155) and SLE.
The SNaPshot genotyping method was used to detect the genotypes of selected SNPs in patients and controls. The expression of miR-21 and miR-155 was analyzed using reverse transcription-quantitative polymerase chain reaction (RT-qPCR). The functional annotation and the biological effects of SNPs were assessed by HaploReg V4.1 and Regulome DB V2.0 software. The Hardy-Weinberg equilibrium test was used to gather statistics, and odds ratios (ORs) and 95% confidence intervals (CIs) were evaluated by logistic regression.
The distribution difference of TA genotype in rs767649 was observed (TA vs. T/T: OR = 0.68, 95%CI, 0.48-0.95, p = 0.026). There was a significant difference in the T/A + A/A (T/A + A/A vs. T/T: OR = 0.68, 95%CI, 0.49-0.94, p = 0.020). A significant difference in T allele distribution was found in the depressed complement of SLE (T vs. A: OR = 0.67, 95%CI, 0.47-0.95, p = 0.026). There were significant differences in genetic variants of rs13137 between the positive and the negative SSB antibodies (Anti-SSB) (T vs. A: OR = 0.67, 95%CI, 0.47-0.95, p = 0.026; T/A + T/T vs. AA: OR = 2.23, 1.18-4.49, p = 0.013). The expression levels of miR-21 and miR-155 were significantly higher in patients than in controls (p < 0.001).
This study provides novel insight that genetic variants of rs767649 and rs13137 are associated with susceptibility to SLE.
系统性红斑狼疮(SLE)是一种常见的自身免疫性疾病,其发病机制尚不清楚。遗传物质的改变被认为在 SLE 的发展中起作用。本研究评估了 microRNA-21(miR-21)和 microRNA-155(miR-155)的遗传变异与 SLE 之间的关系。
采用 SNaPshot 基因分型方法检测患者和对照组中选定 SNP 的基因型。采用逆转录定量聚合酶链反应(RT-qPCR)分析 miR-21 和 miR-155 的表达。通过 HaploReg V4.1 和 Regulome DB V2.0 软件评估 SNP 的功能注释和生物学效应。采用 Hardy-Weinberg 平衡检验进行统计学分析,采用 logistic 回归评估比值比(OR)和 95%置信区间(CI)。
rs767649 中 TA 基因型的分布存在差异(TA 与 T/T:OR=0.68,95%CI,0.48-0.95,p=0.026)。T/A+A/A (T/A+A/A 与 T/T:OR=0.68,95%CI,0.49-0.94,p=0.020)存在显著差异。SLE 补体降低时 T 等位基因分布存在显著差异(T 与 A:OR=0.67,95%CI,0.47-0.95,p=0.026)。rs13137 的遗传变异在抗 SSB 抗体阳性和阴性(Anti-SSB)之间存在显著差异(T 与 A:OR=0.67,95%CI,0.47-0.95,p=0.026;T/A+T/T 与 AA:OR=2.23,1.18-4.49,p=0.013)。miR-21 和 miR-155 的表达水平在患者中明显高于对照组(p<0.001)。
本研究提供了新的见解,即 rs767649 和 rs13137 的遗传变异与 SLE 的易感性有关。