Neurocenter of Southern Switzerland, Ospedale Civico, Lugano, Switzerland.
Int J Immunopathol Pharmacol. 2011 Jan-Mar;24(1):175-83. doi: 10.1177/039463201102400120.
Multiple sclerosis (MS) is thought to be an autoimmune T-cell-mediated disease directed at myelin antigens of the central nervous system. Besides myelin proteins, lipid components of CNS are supposed to play a role as antigens for T cells in MS. CD1 is a family of MHC-like glycoproteins specialized in capturing and presenting a variety of microbial and self lipids and glycolipids to antigen-specific T cells. CD1-restricted T cells specific for gangliosides and sulfatide have been isolated from subjects with MS and in mice with experimental allergic encephalopathy. We genotyped exon 2 of CD1A and CD1E in 205 MS patients and 223 unrelated healthy controls and determined their association with the presence of anti-ganglioside and anti-sulfatide antibodies. CD1E 01-01 is associated with a reduced risk of MS (OR 0.54, p=0.001); CD1A 02-02 (OR 1.99, p=0.012) or CD1E 02-02 (OR 2.45, p=0.000) with an increased risk. The combination of the genotypes CD1A 02-02 and CD1E 02-02 is present in 90.7% of patients but in only 9.4% controls (OR 94.16, p= 0.000). CD1A and CD1E polymorphisms contribute to the polygenic susceptibility to MS. The functional effects of CD1 polymorphisms are unknown, however changes in CD1 alleles may affect numerous immunological functions.
多发性硬化症（MS）被认为是一种自身免疫性 T 细胞介导的疾病，针对中枢神经系统的髓鞘抗原。除了髓鞘蛋白外，中枢神经系统的脂质成分也被认为是 MS 中 T 细胞的抗原。CD1 是一种 MHC 样糖蛋白家族，专门用于捕获和呈现各种微生物和自身脂质和糖脂，以呈递给抗原特异性 T 细胞。已经从 MS 患者和实验性变态反应性脑脊髓炎的小鼠中分离出针对神经节苷脂和硫酸脑苷脂的 CD1 限制性 T 细胞。我们对 205 例 MS 患者和 223 名无关健康对照者的 CD1A 和 CD1E 外显子 2 进行了基因分型，并确定了它们与抗神经节苷脂和抗硫酸脑苷脂抗体的存在之间的关联。CD1E 01-01 与 MS 的风险降低相关（OR 0.54，p=0.001）；CD1A 02-02（OR 1.99，p=0.012）或 CD1E 02-02（OR 2.45，p=0.000）与风险增加相关。基因型 CD1A 02-02 和 CD1E 02-02 的组合在 90.7%的患者中存在，但仅在 9.4%的对照者中存在（OR 94.16，p=0.000）。CD1A 和 CD1E 多态性有助于 MS 的多基因易感性。CD1 多态性的功能影响尚不清楚，但是 CD1 等位基因的变化可能会影响许多免疫功能。
