Department of Neurology, ErasMS Centre, Erasmus Medical Centre, Rotterdam, The Netherlands.
Mult Scler. 2010 Nov;16(11):1303-7. doi: 10.1177/1352458510376778. Epub 2010 Aug 24.
Multiple sclerosis is a presumed autoimmune disease associated with genetic and environmental risk factors such as infectious mononucleosis. Recent research has shown infectious mononucleosis to be associated with a specific HLA class I polymorphism.
Our aim was to test if the infectious mononucleosis-linked HLA class I single nucleotide polymorphism (rs6457110) is also associated with multiple sclerosis.
Genotyping of the HLA-A single nucleotide polymorphism rs6457110 using TaqMan was performed in 591 multiple sclerosis cases and 600 controls. The association of multiple sclerosis with the HLA-A single nucleotide polymorphism was tested using logistic regression adjusted for age, sex and HLA-DRB1*1501.
HLA-A minor allele (A) is associated with multiple sclerosis (OR = 0.68; p = 4.08 × 10( -5)). After stratification for HLA-DRB1*1501 risk allele (T) carrier we showed a significant OR of 0.70 (p = 0.003) for HLA-A.
HLA class I single nucleotide polymorphism rs6457110 is associated with infectious mononucleosis and multiple sclerosis, independent of the major class II allele, supporting the hypothesis that shared genetics may contribute to the association between infectious mononucleosis and multiple sclerosis.
多发性硬化症是一种被认为与遗传和环境风险因素有关的自身免疫性疾病，如传染性单核细胞增多症。最近的研究表明，传染性单核细胞增多症与特定的 HLA Ⅰ类单核苷酸多态性有关。
我们旨在测试传染性单核细胞增多症相关的 HLA Ⅰ类单核苷酸多态性（rs6457110）是否也与多发性硬化症有关。
采用 TaqMan 法对 591 例多发性硬化症病例和 600 例对照进行 HLA-A 单核苷酸多态性 rs6457110 的基因分型。采用 logistic 回归分析调整年龄、性别和 HLA-DRB1*1501 后，检测 HLA-A 单核苷酸多态性与多发性硬化症的相关性。
HLA-A 次要等位基因（A）与多发性硬化症相关（OR=0.68；p=4.08×10(-5)）。在分层分析 HLA-DRB1*1501 风险等位基因（T）携带者后，我们发现 HLA-A 的 OR 显著为 0.70（p=0.003）。
HLA Ⅰ类单核苷酸多态性 rs6457110 与传染性单核细胞增多症和多发性硬化症相关，与主要的Ⅱ类等位基因无关，支持共同的遗传可能导致传染性单核细胞增多症和多发性硬化症之间的相关性的假说。
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