Variation in interleukin 7 receptor a chain (IL7R) influences risk of multiple sclerosis
Variation in interleukin 7 receptor a chain (IL7R) influences risk of multiple sclerosis
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DOI：
10.1038/ng2106
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发表时间：
2007-09-01
期刊：
影响因子：
30.8
通讯作者：
Hillert, Jan
中科院分区：
文献类型：
--
作者：
Lundmark, Frida;Duvefelt, Kristina;Hillert, Jan
多发性硬化症是一种慢性的，经常致残的中枢神经系统疾病，在大多数西方国家，每1,000人中就有1人以上受到影响。多发性硬化的典型炎性病变表现出自身免疫特征，部分依赖于遗传因素。在这些遗传因素中，尽管付出了相当大的努力，但只有HLA基因复合体被反复证实与多发性硬化症有关。许多非HLA基因的多态性已被报道与多发性硬化症有关，但到目前为止，确认是困难的。在这里，我们报告了令人信服的证据，即编码白细胞介素7受体α链（IL 7 R α）的IL 7 R多态性确实有助于多发性硬化症的非HLA遗传风险，证明了该途径在该疾病的病理生理学中的作用。此外，我们报告了在多发性硬化患者的脑脊液室中编码IL-7 R α及其配体IL-7的基因表达的改变。
Multiple sclerosis is a chronic, often disabling, disease of the central nervous system affecting more than 1 in 1,000 people in most western countries. The inflammatory lesions typical of multiple sclerosis show autoimmune features and depend partly on genetic factors. Of these genetic factors, only the HLA gene complex has been repeatedly confirmed to be associated with multiple sclerosis, despite considerable efforts. Polymorphisms in a number of non- HLA genes have been reported to be associated with multiple sclerosis, but so far confirmation has been difficult. Here, we report compelling evidence that polymorphisms in IL7R, which encodes the interleukin 7 receptor a chain ( IL7R alpha), indeed contribute to the non- HLA genetic risk in multiple sclerosis, demonstrating a role for this pathway in the pathophysiology of this disease. In addition, we report altered expression of the genes encoding IL7R alpha and its ligand, IL7, in the cerebrospinal fluid compartment of individuals with multiple sclerosis.