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西班牙西北部经活检证实的巨细胞动脉炎中C反应蛋白基因多态性

C-reactive protein gene polymorphisms in biopsy-proven giant cell arteritis from Northwestern Spain.

作者信息

Palomino-Morales Rogelio, Vazquez-Rodriguez Tomas R, Miranda-Filloy Jose A, Martin Javier, Gonzalez-Gay Miguel A

机构信息

Consejo Superior de Investigaciones Cientificas (CSIC), Granada, Spain.

出版信息

J Rheumatol. 2009 Feb;36(2):341-6. doi: 10.3899/jrheum.080707.

Abstract

OBJECTIVE

To investigate the potential implication of several polymorphisms of the C-reactive protein (CRP) gene in the predisposition to or clinical expression of giant cell arteritis (GCA).

METHODS

A total of 125 patients diagnosed with biopsy-proven GCA and 234 ethnically matched controls from the Lugo region of Northwestern Spain were included in our study. Four functional gene polymorphisms for CRP rs1417938, rs1800947, rs1205, and rs3093059 variants were assessed using a polymerase chain reaction system with predeveloped TaqMan allelic discrimination assay.

RESULTS

Although we observed a significant increase in the frequency of heterozygotes for rs1417938 A/T [odds ratio (OR) = 1.70; 95% confidence interval (CI) 1.04-2.80; p = 0.03] and rs1205 C/T (OR 1.73; 95% CI 1.07-2.78; p = 0.02) in patients with GCA, no statistically significant differences in the allelic frequencies of these 2 polymorphisms were found between patients with GCA and controls. A marginal significant increase in the frequency of rs3093059 allele T in patients with GCA compared to controls was observed (OR 1.81; 95% CI 0.97-3.39; p = 0.04). However, the increased frequency of patients with GCA homozygous for rs3093059 T/T in patients with GCA compared to controls was out of the range of significance (OR 1.77; 95% CI 0.92-3.40; p = 0.07). No significant differences were found when we stratified patients with GCA according to the presence of polymyalgia rheumatica or severe ischemic complications of the disease.

CONCLUSION

The functional CRP gene polymorphisms assessed in our study do not seem to play a major role in the pathogenesis of GCA in individuals from Northwestern Spain.

摘要

目的

研究C反应蛋白(CRP)基因的几种多态性在巨细胞动脉炎(GCA)易感性或临床表型中的潜在影响。

方法

本研究纳入了125例经活检证实为GCA的患者以及234例来自西班牙西北部卢戈地区种族匹配的对照。使用带有预开发TaqMan等位基因鉴别分析的聚合酶链反应系统评估CRP rs1417938、rs1800947、rs1205和rs3093059变体的四个功能基因多态性。

结果

尽管我们观察到GCA患者中rs1417938 A/T杂合子频率显著增加[比值比(OR)=1.70;95%置信区间(CI)1.04 - 2.80;p = 0.03]以及rs1205 C/T(OR 1.73;95% CI 1.07 - 2.78;p = 0.02),但在GCA患者和对照之间,这两种多态性的等位基因频率没有统计学上的显著差异。与对照相比,观察到GCA患者中rs3093059等位基因T的频率有边缘性显著增加(OR 1.81;95% CI 0.97 - 3.39;p = 0.04)。然而,GCA患者中rs3093059 T/T纯合子频率增加,但与对照相比未达到显著范围(OR 1.77;95% CI 0.92 - 3.40;p = 0.07)。当我们根据是否存在风湿性多肌痛或该疾病的严重缺血性并发症对GCA患者进行分层时,未发现显著差异。

结论

在我们的研究中评估的功能性CRP基因多态性似乎在西班牙西北部个体的GCA发病机制中不起主要作用。

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