Sobkowiak Adam, Lianeri Margarita, Wudarski Mariusz, Łacki Jan K, Jagodziński Paweł P
Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6 Swiecickiego St., 60-781, Poznan, Poland.
Rheumatol Int. 2009 Jun;29(8):921-5. doi: 10.1007/s00296-008-0776-4. Epub 2008 Dec 10.
Identification of susceptibility genes in systemic lupus erythematosus (SLE) has recently become a topic of interest. The IL-10 promoter contains three single base-pair substitutions at -627C > A, -854C > T and -1117G > A. These single base-pair substitutions produce three different haplotypes, GCC, ACC and ATA, which affect IL-10 expression. We examined the distribution of -627C > A, -854C > T and -1117G > A IL-10 promoter polymorphisms in patients with SLE (n = 103, women only) and matched controls (n = 300). Despite the higher prevalence of the GCC/GCC, GCC/ATA and ATA/ATA genotypes in SLE patients than in controls, we observed that only GCC/GCC genotype frequency distribution was significant between these groups. We observed that women with the GCC/GCC genotype displayed an approximately twofold increased risk of SLE OR = 2.245 (95% CI = 1.354-3.721, P = 0.0022). We did not find any associations between various genotypes of IL-10 promoter haplotypes and clinical manifestations or autoantibody production in patients with SLE. Our observations indicate that the GCC/GCC promoter genotype may contribute to SLE incidence in Polish patients.
系统性红斑狼疮（SLE）易感性基因的鉴定最近成为一个备受关注的话题。白细胞介素-10（IL-10）启动子在-627C>A、-854C>T和-1117G>A处存在三个单碱基对替换。这些单碱基对替换产生了三种不同的单倍型，即GCC、ACC和ATA，它们会影响IL-10的表达。我们检测了SLE患者（n = 103，仅女性）和匹配对照（n = 300）中IL-10启动子-627C>A、-854C>T和-1117G>A多态性的分布情况。尽管SLE患者中GCC/GCC、GCC/ATA和ATA/ATA基因型的患病率高于对照组，但我们观察到只有GCC/GCC基因型频率分布在两组之间具有显著性差异。我们观察到，具有GCC/GCC基因型的女性患SLE的风险增加了约两倍，比值比（OR）= 2.245（95%置信区间[CI] = 1.354 - 3.721，P = 0.0022）。我们未发现SLE患者中IL-10启动子单倍型的各种基因型与临床表现或自身抗体产生之间存在任何关联。我们的观察结果表明，GCC/GCC启动子基因型可能与波兰患者的SLE发病有关。
