Lee J Y, Goldman D, Piliero L M, Petri M, Sullivan K E
The Division of Immunologic and Infectious Diseases, The Children's Hospital of Philadelphia. The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Genes Immun. 2001 Aug;2(5):254-7. doi: 10.1038/sj.gene.6363775.
Interferon-gamma is a cytokine which is believed to play a role in both the susceptibility and pathogenesis of lupus. To determine whether genetic variants might influence the development of this polygenic autoimmune disease, we analyzed the gene frequency of eight different alleles in controls and patients with SLE. Ninety-nine controls and 136 patients with systemic lupus erythematosus were genotyped for a CA repeat in the first intron of the interferon-gamma gene. There were no statistically significant differences in the allele frequencies between patients and controls suggesting that these polymorphic variants do not influence susceptibility. We then examined whether any of these alleles were associated with specific clinical manifestations. Allele 1 was associated with gastrointestinal lupus while allele 6 was associated with more severe lupus. Allele 2 appeared to be protective for arthritis. This suggests that genetic variation in interferon-gamma expression might influence the disease course.
γ干扰素是一种细胞因子，被认为在狼疮的易感性和发病机制中均起作用。为了确定基因变异是否可能影响这种多基因自身免疫性疾病的发展，我们分析了对照组和系统性红斑狼疮（SLE）患者中8种不同等位基因的基因频率。对99名对照者和136名系统性红斑狼疮患者的γ干扰素基因第一内含子中的CA重复序列进行基因分型。患者和对照者之间的等位基因频率没有统计学上的显著差异，这表明这些多态性变异不会影响易感性。然后，我们检查这些等位基因是否与特定的临床表现相关。等位基因1与胃肠道狼疮相关，而等位基因6与更严重的狼疮相关。等位基因2似乎对关节炎有保护作用。这表明γ干扰素表达的基因变异可能影响疾病进程。
