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系统性红斑狼疮中 Fas 基因多态性与某些细胞凋亡相关分子的血清水平。

Fas gene polymorphisms in systemic lupus erythematosus and serum levels of some apoptosis-related molecules.

机构信息

Department of Immunology, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Immunol Invest. 2010;39(1):27-38. doi: 10.3109/08820130903401736.

Abstract

The frequency of the Fas gene polymorphism at positions-1377 G/A and -670 A/G in 249 patients with systemic lupus erythematosus (SLE) and 212 healthy controls were investigated using the allele-specific polymerase chain reaction. On evaluation of genotype and allelic distributions at position -670, no significant difference was observed between patients and controls. At position -1377, the GG genotype and G allele was higher in the patient group than in the control group (p < 0.036). The haplotype frequencies showed a significant difference between patients and controls (p = 0.045). The association of these polymorphisms and Fas and Fas ligand serum levels and also anti-SSA/Ro and anti-SSB/La antibodies were studied in a second cohort of SLE patients. Soluble Fas and Fas ligand levels were both significantly higher in the patient group compared with controls (p = 0.001), but they showed no significant association with the studied polymorphisms. Anti-SSA/Ro and anti-SSB/La were not correlated with soluble Fas and Fas lignad levels, but patients with the -670GG genotype showed lower amounts of anti-SSB/La in their serum. In conclusion, results of this study imply that Fas promoter polymorphisms might contribute to individual susceptibility to SLE and influence the anti-SSB/La autoantibody response in patients.

摘要

采用等位基因特异性聚合酶链反应检测了 249 例系统性红斑狼疮(SLE)患者和 212 名健康对照者 Fas 基因在-1377 位 G/A 和-670 位 A/G 的多态性频率。在评价-670 位的基因型和等位基因分布时,患者与对照组之间无显著性差异。在-1377 位,GG 基因型和 G 等位基因在患者组中高于对照组(p<0.036)。患者与对照组间的单体型频率存在显著差异(p=0.045)。在第二组 SLE 患者中研究了这些多态性与 Fas 和 Fas 配体血清水平以及抗 SSA/Ro 和抗 SSB/La 抗体的关系。与对照组相比,患者可溶性 Fas 和 Fas 配体水平均显著升高(p=0.001),但与研究的多态性无显著相关性。抗 SSA/Ro 和抗 SSB/La 与可溶性 Fas 和 Fas 配体水平无相关性,但-670GG 基因型患者血清中抗 SSB/La 含量较低。总之,本研究结果提示 Fas 启动子多态性可能与个体 SLE 易感性有关,并影响患者抗 SSB/La 自身抗体反应。

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