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基因单核苷酸多态性与中国人群类风湿关节炎的关联。

Association of gene single nucleotide polymorphisms with rheumatoid arthritis in a Chinese population.

机构信息

Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China.

Anhui Province Key Laboratory of Major Autoimmune Diseases, Hefei, China.

出版信息

Postgrad Med J. 2018 May;94(1111):284-288. doi: 10.1136/postgradmedj-2017-135441. Epub 2018 Feb 27.

Abstract

PURPOSE OF THE STUDY

Increasing numbers of studies show that interleukin (IL)-10 plays a key role in the pathogenesis of autoimmune diseases including rheumatoid arthritis (RA) and acts as an immunomodulatory cytokine. The purpose of the present study was to analyse the relationship between gene single nucleotide polymorphisms (SNPs) in the gene and RA susceptibility.

STUDY DESIGN

We genotyped three SNPs (rs1800890, rs3024495, rs3024505) of the gene in a Chinese population of 354 RA patients and 367 controls. Genotyping was conducted using TaqMan SNP genotyping assays. Plasma IL-10 levels were measured by ELISA.

RESULTS

The A allele of the rs1800890 variant was significantly related to decreased risk for RA compared with the T allele (A vs T: OR 0.580, 95% CI 0.345 to 0.975, P=0.038). No significant association between the genotype distribution of these SNPs and RA susceptibility was detected. The genotype effect of the dominant model was also evaluated, but no statistical difference was found. Further analysis in RA patients demonstrated that none of these SNPs were associated with rheumatoid factor (RF) or anti-citrullinated protein antibody (anti-CCP). In addition, no significant differences in plasma IL-10 levels were observed among RA patients with different genotypes.

CONCLUSIONS

The rs1800890 variant might contribute to RA susceptibility in the Chinese population. Replication studies in different ethnic groups are required to further examine the critical role of gene variation in the pathogenesis of RA.

摘要

目的

越来越多的研究表明白细胞介素(IL)-10 在包括类风湿关节炎(RA)在内的自身免疫性疾病的发病机制中起着关键作用,并作为一种免疫调节细胞因子。本研究旨在分析基因单核苷酸多态性(SNP)与 RA 易感性之间的关系。

设计

我们对 354 例 RA 患者和 367 例对照的基因中的三个 SNP(rs1800890、rs3024495、rs3024505)进行了基因分型。采用 TaqMan SNP 基因分型检测方法进行基因分型。采用 ELISA 法测定血浆 IL-10 水平。

结果

与 T 等位基因相比,rs1800890 变体的 A 等位基因与 RA 发病风险降低显著相关(A 对 T:OR 0.580,95%CI 0.345 至 0.975,P=0.038)。未发现这些 SNP 的基因型分布与 RA 易感性之间存在显著关联。还评估了这些 SNP 显性模型的基因型效应,但未发现统计学差异。在 RA 患者中的进一步分析表明,这些 SNP 均与类风湿因子(RF)或抗环瓜氨酸肽抗体(抗-CCP)无关。此外,不同基因型的 RA 患者血浆 IL-10 水平无显著差异。

结论

基因 rs1800890 变体可能导致中国人群 RA 易感性增加。需要在不同种族群体中进行复制研究,以进一步研究基因变异在 RA 发病机制中的关键作用。

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