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CD24基因多态性与系统性红斑狼疮易感性的关联

Association of a CD24 gene polymorphism with susceptibility to systemic lupus erythematosus.

作者信息

Sánchez Elena, Abelson Anna-Karin, Sabio Jose M, González-Gay Miguel A, Ortego-Centeno Norberto, Jiménez-Alonso Juan, de Ramón Enrique, Sánchez-Román Julio, López-Nevot Miguel A, Gunnarsson Iva, Svenungsson Elisabet, Sturfelt Gunnar, Truedsson Lennart, Jönsen Andreas, González-Escribano Maria Francisca, Witte Torsten, Alarcón-Riquelme Marta E, Martín Javier

机构信息

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

出版信息

Arthritis Rheum. 2007 Sep;56(9):3080-6. doi: 10.1002/art.22871.

Abstract

OBJECTIVE

To determine the potential role of the CD24 A57V gene polymorphism in systemic lupus erythematosus (SLE).

METHODS

We studied 3 cohorts of Caucasian patients and controls. The Spanish cohort included 696 SLE patients and 539 controls, the German cohort included 257 SLE patients and 317 controls, and the Swedish cohort included 310 SLE patients and 247 controls. The CD24 A57V polymorphism was genotyped by polymerase chain reaction, using a predeveloped TaqMan allele discrimination assay. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated.

RESULTS

In the Spanish cohort there was a statistically significant difference in the distribution of the CD24 V allele between SLE patients and controls (OR 3.6 [95% CI 2.13-6.16], P < 0.0001). In addition, frequency of the CD24 V/V genotype was increased in SLE patients compared with controls (OR 3.7 [95% CI 2.16-6.34], P < 0.00001). We sought to replicate this association with SLE in a German population and a Swedish population. A similar trend was found in the German group. The CD24 V/V genotype and the CD24 V allele were more frequent in SLE patients than in controls, although this difference was not statistically significant. No differences were observed in the Swedish group. A meta-analysis of the Spanish and German cohorts demonstrated that the CD24 V allele has a risk effect in SLE patients (pooled OR 1.25 [95% CI 1.08-1.46], P = 0.003). In addition, homozygosity for the CD24 V risk allele significantly increased the effect (pooled OR 2.19 [95% CI 1.50-3.22], P = 0.00007).

CONCLUSION

These findings suggest that the CD24 A57V polymorphism plays a role in susceptibility to SLE in a Spanish population.

摘要

目的

确定CD24 A57V基因多态性在系统性红斑狼疮(SLE)中的潜在作用。

方法

我们研究了3组白种人患者及对照。西班牙队列包括696例SLE患者和539例对照,德国队列包括257例SLE患者和317例对照,瑞典队列包括310例SLE患者和247例对照。采用预先开发的TaqMan等位基因鉴别分析方法,通过聚合酶链反应对CD24 A57V多态性进行基因分型。计算比值比(OR)和95%置信区间(95%CI)。

结果

在西班牙队列中,SLE患者与对照之间CD24 V等位基因的分布存在统计学显著差异(OR 3.6 [95%CI 2.13 - 6.16],P < 0.0001)。此外,与对照相比,SLE患者中CD24 V/V基因型的频率增加(OR 3.7 [95%CI 2.16 - 6.34],P < 0.00001)。我们试图在德国人群和瑞典人群中重复这种与SLE的关联。在德国组中发现了类似趋势。SLE患者中CD24 V/V基因型和CD24 V等位基因比对照更常见,尽管这种差异无统计学显著性。在瑞典组中未观察到差异。对西班牙和德国队列的荟萃分析表明,CD24 V等位基因对SLE患者有风险效应(合并OR 1.25 [95%CI 1.08 - 1.46],P = 0.003)。此外,CD24 V风险等位基因的纯合性显著增加了效应(合并OR 2.19 [95%CI 1.50 - 3.22],P = 0.00007)。

结论

这些发现表明,CD24 A57V多态性在西班牙人群中对SLE的易感性起作用。

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