IL-41基因与系统性红斑狼疮相关的新单核苷酸多态性(rs1600485907)

Reema Mohammed Abed, Laith Ahmed Yaaqoob
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引用次数: 0

摘要

本研究评估了诊断为系统性红斑狼疮(SLE)的女性受试者血清IL-41浓度和IL-41基因特异性单核苷酸多态性(snp) (rs1600485907、rs762398841和rss575275512)的检测。研究样本包括124名被诊断为SLE的女性患者,以及同等数量的健康对照志愿者。血清水平采用酶联免疫吸附试验(ELISA)技术测定,而单核苷酸多态性采用常规聚合酶链反应(PCR)测定,随后进行Sanger测序。结果显示,健康对照组的平均年龄为31.64岁,SLE诊断组的平均年龄为33.66岁。本研究结果表明,接受检查的个体平均病程为9.0年,而SLE患者的平均SLEDAI-2k评分为11.0。诊断为SLE的个体ESR、CRP、尿素、肌酐、C3和C4的浓度与对照组相比有统计学意义的升高。患者抗核抗体(ANA)分析显示89%的个体具有ANA,而95.61%的个体显示抗dsdna。与健康对照相比,SLE患者血清IL-41水平显著升高。对一组SLE患者进行受试者工作特征(ROC)分析,以评估IL-41在区分SLE患者和非SLE患者中的诊断功效。研究确定IL-41的特异性为82.26%,代表准确的阴性结果百分比。相比之下,IL-41的敏感性为84.68%,表明准确阳性结果的百分比。曲线下面积(AUC)的计算值为0.937。统计分析显示IL-41 (rs1600485907)的杂合子和纯合子突变基因型的存在与SLE易感性的增加之间存在显著的联系。总之,已经证明被诊断为SLE的个体在其循环血浆中il -41浓度升高。此外,一种特殊的遗传变异,特别是位于IL-41基因内的单核苷酸多态性(SNP) rs1600485907,已被认为是该疾病发病的潜在易感因素。
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Novel single nucleotide polymorphism (rs1600485907) of IL-41 gene associated with systemic lupus erythematous
This study evaluated the serum concentrations of IL-41 and the detection of specific single nucleotide polymorphisms (SNPs) (rs1600485907, rs762398841, and rs575275512) within the IL-41 gene in female subjects diagnosed with systemic lupus erythematosus (SLE). The study sample comprised 124 female patients who had been diagnosed with SLE, with an equivalent number of healthy control volunteers. The levels of serum were determined using the application of an enzyme-linked immunosorbent assay (ELISA) technology, while SNPs were determined by conventional polymerase chain reaction (PCR), and subsequent Sanger sequencing. The results revealed that the mean age of the healthy control group was 31.64 years, whereas the mean age of the group diagnosed with SLE was 33.66 years. The findings of the present investigation indicate that the individuals under examination demonstrated an average disease duration of 9.0 years, whereas the average SLEDAI-2k score for those diagnosed with SLE was 11.0. The concentrations of ESR, CRP, urea, creatinine, C3, and C4 in individuals diagnosed with SLE showed a statistically significant elevation in comparison to the control cohort. The analysis of patients’ anti-nuclear antibodies (ANA) revealed that 89% of individuals have ANA, whereas 95.61% display anti-dsDNA. Significantly elevated levels of serum IL-41 were seen in patients diagnosed with SLE in comparison to healthy controls. A receiver operating characteristic (ROC) analysis was performed on a cohort of patients diagnosed with SLE to assess the diagnostic efficacy of IL-41 in discriminating between SLE patients and non-afflicted persons. The study determined that the specificity of IL-41 was 82.26%, representing the percentage of accurate negative outcomes. In contrast, the sensitivity of IL-41 was found to be 84.68%, indicating the percentage of accurate positive outcomes. The computed value for the area under the curve (AUC) was found to be 0.937. The statistical analysis revealed a significant connection between the existence of both heterozygote and homozygote mutant genotypes of IL-41 (rs1600485907) and an increased vulnerability to the formation of SLE. In conclusion, it has been shown that individuals diagnosed with SLE demonstrate heightened concentrations of IL-41in their circulating blood plasma. Furthermore, a particular genetic variation, specifically a single nucleotide polymorphism (SNP) denoted as rs1600485907 located within the IL-41 gene, has been recognized as a potential susceptibility factor for the onset of this disorder.
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来源期刊
Asia-pacific Journal of Molecular Biology and Biotechnology
Asia-pacific Journal of Molecular Biology and Biotechnology Biochemistry, Genetics and Molecular Biology-Biotechnology
CiteScore
0.90
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0.00%
发文量
25
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