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脂联素和脂联素受体基因多态性与中国人群类风湿关节炎的相关性。

Association of adiponectin and adiponectin receptor gene 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, Anhui, China.

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

出版信息

Postgrad Med J. 2020 Mar;96(1133):149-155. doi: 10.1136/postgradmedj-2018-136372. Epub 2019 Sep 28.

Abstract

PURPOSE

To explore the association of adiponectin () and adiponectin receptor () gene single-nucleotide polymorphisms (SNPs) with genetic susceptibility to rheumatoid arthritis (RA) in a Chinese population.

STUDY DESIGN

Five SNPs (rs266729, rs2241766, rs1063537, rs2082940 and rs1063539) and two SNPs (rs7539542 and rs12342) were genotyped in a cohort of 617 patients with RA and 639 healthy controls. Seven SNPs were genotyped using TaqMan genotyping assays on the Fluidigm 192.24 system. The concentration of in plasma was examined by ELISA.

RESULTS

Patients with RA showed a considerably lower plasma level of than healthy controls (p=0.002). No significant differences were observed for the distribution of allele and genotype frequencies of rs266729, rs2241766, rs2082940, rs1063539, rs7539542 and rs12342 SNPs between patients with RA and controls. The genotype effects of recessive and dominant models were also analysed, but no marked evidence for association was found. However, further analysis in female patients with RA showed that the frequency of the gene rs1063539 GG genotype was nominally significantly higher in patients who were anti-cyclic citrullinated peptide (anti-CCP) antibody-positive (p=0.040). No significant differences in serum level were observed in patients with RA with different genotypes.

CONCLUSIONS

rs266729, rs2241766, rs2082940 and rs1063539 in the gene and rs7539542 and rs12342 in the gene are possibly not associated with genetic susceptibility to RA, but the gene rs1063539 locus was possibly associated with anti-CCP in RA female patients.

摘要

目的

探讨脂联素()和脂联素受体()基因单核苷酸多态性(SNPs)与中国人群类风湿关节炎(RA)遗传易感性的关系。

研究设计

在 617 例 RA 患者和 639 例健康对照者的队列中,对 5 个 SNPs(rs266729、rs2241766、rs1063537、rs2082940 和 rs1063539)和 2 个 SNPs(rs7539542 和 rs12342)进行基因分型。采用 TaqMan 基因分型检测试剂盒在 Fluidigm 192.24 系统上对 7 个 SNP 进行基因分型。采用 ELISA 法检测血浆中 的浓度。

结果

RA 患者的血浆 水平明显低于健康对照组(p=0.002)。rs266729、rs2241766、rs2082940、rs1063539、rs7539542 和 rs12342 SNP 的等位基因和基因型频率在 RA 患者与对照组之间无显著差异。还分析了隐性和显性模型的基因型效应,但未发现明显的关联证据。然而,在女性 RA 患者中进一步分析表明,抗环瓜氨酸肽(抗-CCP)抗体阳性的患者中, 基因 rs1063539 GG 基因型的频率明显更高(p=0.040)。不同基因型 RA 患者的血清 水平无显著差异。

结论

基因中的 rs266729、rs2241766、rs2082940 和 rs1063539 以及 基因中的 rs7539542 和 rs12342 可能与 RA 的遗传易感性无关,但 基因 rs1063539 位点可能与 RA 女性患者的抗-CCP 相关。

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