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一项病例对照研究表明,CCR6 基因座与巨细胞动脉炎的易感性无关。

A case-control study suggests that the CCR6 locus is not involved in the susceptibility to giant cell arteritis.

机构信息

Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.

出版信息

Clin Exp Rheumatol. 2013 Jan-Feb;31(1 Suppl 75):S5-8. Epub 2013 Jan 7.

Abstract

OBJECTIVES

Polymorphisms of the CC chemokine receptor 6 (CCR6) gene have been recently reported to be associated with a number of autoimmune diseases. We aimed to investigate the possible influence of CCR6 rs3093024 gene variant in the susceptibility to and clinical expression of GCA.

METHODS

The CCR6 polymorphism rs3093024 was genotyped in a total of 463 Spanish patients diagnosed with biopsy-proven GCA and 920 healthy controls using a TaqMan® allelic discrimination assay. PLINK software was used for the statistical analyses.

RESULTS

No significant association between this CCR6 variant and GCA was observed (p=0.42, OR=0.94, CI95% 0.79-1.10). Similarly, when patients were stratified according to the specific clinical features of GCA such as polymyalgia rheumatica, visual ischaemic manifestations or irreversible occlusive disease, no statistical significant difference was detected either between the case subgroups and the control set or between GCA patients with and without the specific features of the disease.

CONCLUSIONS

Our results suggest that the CCR6 rs3093024 polymorphism may not play a relevant role in the GCA pathophysiology.

摘要

目的

CC 趋化因子受体 6(CCR6)基因的多态性最近被报道与许多自身免疫性疾病有关。我们旨在研究 CCR6 rs3093024 基因变异在 GCA 易感性和临床表达中的可能影响。

方法

采用 TaqMan®等位基因鉴别分析,对 463 名经活检证实的 GCA 西班牙患者和 920 名健康对照者进行了 CCR6 多态性 rs3093024 基因分型。PLINK 软件用于统计分析。

结果

未观察到该 CCR6 变异与 GCA 之间存在显著相关性(p=0.42,OR=0.94,95%CI95%0.79-1.10)。同样,当根据 GCA 的具体临床特征(如风湿性多肌痛、视觉缺血表现或不可逆闭塞性疾病)对患者进行分层时,病例亚组与对照组之间或 GCA 患者与无疾病特定特征的患者之间也未检测到统计学显著差异。

结论

我们的结果表明,CCR6 rs3093024 多态性可能在 GCA 病理生理学中不起重要作用。

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