白细胞介素1α单核苷酸多态性与系统性硬化症相关。
Interleukin 1alpha single-nucleotide polymorphism associated with systemic sclerosis.
作者信息
Hutyrová Beáta, Lukác Jozef, Bosák Vladimír, Buc Milan, du Bois Roland, Petrek Martin
机构信息
Department of Immunology, Palacky University, Olomouc, Czech Republic.
出版信息
J Rheumatol. 2004 Jan;31(1):81-4.
OBJECTIVE
In systemic sclerosis (SSc), constitutive expression of the proinflammatory and fibrogenic cytokine interleukin 1alpha (IL-1alpha) by dermal fibroblasts from the affected skin has been observed. We investigated the association of a single-nucleotide polymorphism at position -889 in the IL-1alpha gene in patients with SSc.
METHODS
Genotyping of IL-1alpha-889 polymorphism was performed in 46 patients with SSc and in 150 healthy controls by polymerase chain reaction with sequence-specific primers. All subjects were unrelated Slovak Caucasians.
RESULTS
In SSc patients, carriers of the IL-1alpha-889 T allele were significantly overrepresented in comparison with controls (63.0% vs 42.0%; p = 0.01, OR 2.3, 95% CI 1.2-4.6). The frequency of the IL-1alpha-889 T allele was increased in SSc patients (38.0%) in comparison with controls (25.7%; p = 0.02).
CONCLUSION
The IL-1alpha-889 polymorphism, previously shown to predispose to increased IL-1 protein expression, may be involved in susceptibility to SSc.
目的
在系统性硬化症（SSc）中，已观察到来自受累皮肤的真皮成纤维细胞组成性表达促炎和促纤维化细胞因子白细胞介素1α（IL-1α）。我们研究了SSc患者IL-1α基因-889位单核苷酸多态性的相关性。
方法
采用序列特异性引物聚合酶链反应对46例SSc患者和150例健康对照进行IL-1α -889多态性基因分型。所有受试者均为无关的斯洛伐克白种人。
结果
在SSc患者中，与对照组相比，IL-1α -889 T等位基因携带者显著增多（63.0%对42.0%；p = 0.01，比值比2.3，95%可信区间1.2 - 4.6）。与对照组（25.7%）相比，SSc患者中IL-1α -889 T等位基因频率增加（38.0%；p = 0.02）。
结论
先前显示易导致IL-1蛋白表达增加的IL-1α -889多态性可能与SSc易感性有关。
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