台湾地区CD4增强子基因多态性与类风湿性关节炎及系统性红斑狼疮的关联

Association of CD4 enhancer gene polymorphisms with rheumatoid arthritis and systemic lupus erythematosus in Taiwan.

作者信息

Lo Sui-Foon, Wan Lei, Lin Hsiu-Chen, Huang Chung-Ming, Tsai Fuu-Jen

机构信息

Department of Physical Medicine and Rehabilitations, China Medical University Hospital, Taichung, Taiwan.

出版信息

J Rheumatol. 2008 Nov;35(11):2113-8. doi: 10.3899/jrheum.070993.

DOI:10.3899/jrheum.070993

PMID:19004052

Abstract

UNLABELLED

It has been found that changes in CD4 expression and CD4+ T cell activity may influence tolerance or tissue destruction in autoimmune diseases and contribute to their risk. We examined whether an association of CD4 enhancer gene polymorphisms with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) exists.

METHODS

For study of the CD4 -11743A/C polymorphism, 192 patients with RA, 141 patients with SLE, and 96 normal controls participated. For the CD4 -10845A/G polymorphism, 191 patients with RA, 127 patients with SLE, and 92 controls participated. The polymorphism of the CD4 enhancer was examined with the polymerase chain reaction-restriction fragment length polymorphism method. Genotypic and allelic frequencies of the 3 groups of participants were compared. Genotype groups were also compared according to different clinical variables among the patients with RA and SLE.

RESULTS

For the CD4 -11743A/C polymorphism, patients with RA demonstrated significantly higher frequency of the C allele (p = 0.048); patients with SLE had significantly higher frequency of the CC genotype (p = 0.026), and lower frequency of the AC genotype (p = 0.013) compared with controls. For the CD4 -10845A/G polymorphism, patients with RA had significantly higher frequencies of the AA genotype (p = 0.047) and the A allele (p = 0.026); patients with SLE had significantly higher frequency of the AA genotype (p = 0.011) and A allele (p = 0.001), and lower frequency of the GG genotype (p = 0.003) compared with controls. A comparison of genotype groups according to different clinical variables revealed the association of the respective polymorphisms with mucosal ulcer lesions among patients with SLE.

CONCLUSION

. Our results suggest that the genetic polymorphisms at the CD4 enhancer gene are associated with the risk of development of RA and SLE. They are also associated with mucosal ulcer lesions in patients with SLE.

摘要

未标记

已发现CD4表达和CD4 + T细胞活性的变化可能影响自身免疫性疾病中的耐受性或组织破坏，并增加其发病风险。我们研究了CD4增强子基因多态性与类风湿性关节炎（RA）和系统性红斑狼疮（SLE）之间是否存在关联。

方法

为研究CD4 -11743A/C多态性，纳入了192例RA患者、141例SLE患者和96名正常对照。为研究CD4 -10845A/G多态性，纳入了191例RA患者、127例SLE患者和92名对照。采用聚合酶链反应-限制性片段长度多态性方法检测CD4增强子的多态性。比较三组参与者的基因型和等位基因频率。还根据RA和SLE患者的不同临床变量比较基因型组。

结果

对于CD4 -11743A/C多态性，RA患者的C等位基因频率显著更高（p = 0.048）；与对照组相比，SLE患者的CC基因型频率显著更高（p = 0.026），AC基因型频率更低（p = 0.013）。对于CD4 -10845A/G多态性，RA患者的AA基因型频率（p = 0.047）和A等位基因频率（p = 0.026）显著更高；与对照组相比，SLE患者的AA基因型频率（p = 0.011）和A等位基因频率（p = 0.001）显著更高，GG基因型频率更低（p = 0.003）。根据不同临床变量对基因型组进行比较，发现SLE患者中各自的多态性与黏膜溃疡病变有关。