Mas A, Martínez A, de las Heras V, Bartolomé M, de la Concha E G, Arroyo R, Urcelay E
Department of Immunology, Hospital Clínico San Carlos, C Prof Martín Lagos, s/n 28040, Madrid, Spain.
Mult Scler. 2007 Mar;13(2):250-2. doi: 10.1177/1352458506070944.
Multiple sclerosis (MS) is an inflammatory disease affecting the central nervous system. The dysregulation of the cytokine network is an important component of its pathogenesis. One of the cytokines produced by activated T-cells is osteopontin (OPN). OPN enhances the production of the pro-inflammatory cytokines, interleukin-12 and interferon-gamma, while reducing interleukin-10 levels. Therefore, OPN is considered a pro-inflammatory cytokine, and could play a key role in MS pathogenesis. The OPN gene contains several common polymorphisms, distributed in two main haplotypes, which may modulate its production or activity. A total of 326 MS patients and 484 healthy controls were typed for 795CT OPN polymorphism. In order to perform a familial study, 51 progenitor pairs were also included. No difference was found in the case-control or family study. This negative finding is inconsistent with a previous haplotype study in an Italian population, where the haplotype associated carried the low-frequency allele in position 795. In a Japanese population, a similar study yielded no association with this polymorphism. In conclusion, our data suggest that the 795 polymorphism does not play an etiological role per se and the haplotype structure may differ from one population to another.
多发性硬化症（MS）是一种影响中枢神经系统的炎症性疾病。细胞因子网络失调是其发病机制的重要组成部分。活化T细胞产生的细胞因子之一是骨桥蛋白（OPN）。OPN可增强促炎细胞因子白细胞介素-12和干扰素-γ的产生，同时降低白细胞介素-10水平。因此，OPN被认为是一种促炎细胞因子，可能在MS发病机制中起关键作用。OPN基因包含几种常见的多态性，分布在两个主要单倍型中，这可能会调节其产生或活性。对326例MS患者和484名健康对照者进行了795CT OPN多态性分型。为了进行家族研究，还纳入了51对祖代。在病例对照研究或家族研究中均未发现差异。这一阴性结果与之前在意大利人群中的单倍型研究不一致，在该研究中，相关单倍型在795位点携带低频等位基因。在日本人群中，一项类似的研究也未发现该多态性存在关联。总之，我们的数据表明，795多态性本身并不起病因学作用，且单倍型结构可能因人群而异。
