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下西里西亚地区波兰人群中,第1外显子CTLA-4基因多态性A(49)G与多发性硬化症之间不存在关联。

Lack of association between an exon 1 CTLA-4 gene polymorphism A(49)G and multiple sclerosis in a Polish population of the Lower Silesia region.

作者信息

Boćko Dorota, Bilińska Małgorzata, Dobosz Tadeusz, Zołedziewska Magdalena, Suwalska Katarzyna, Tutak Anna, Gruszka Ewa, Frydecka Irena

机构信息

Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.

出版信息

Arch Immunol Ther Exp (Warsz). 2003;51(3):201-5.

PMID:12894875
Abstract

Multiple sclerosis (MS) a chronic inflammatory demyelinating disease of the central nervous system is believed to have a T cell-mediated autoimmune etiology. The cytotoxic T lymphocyte antigen 4 (CTLA-4) gene is a strong candidate for the involvement in autoimmune diseases because CTLA-4 plays an important role in the downregulation of the early and late stages of T cell activation and the maintenance of peripheral T cell tolerance. To examine the genetic association of the CTLA-4 gene locus with MS, we analyzed an exon 1 CTLA-4 gene polymorphism A(49)G in 102 unrelated Polish MS patients in the Lower Silesia region and 101 age- and sex-matched healthy subjects. The distribution of CTLA-4 exon 1 A(49)G genotype, phenotype and allele frequencies did not differ between patients with MS and healthy subjects.

摘要

多发性硬化症(MS)是一种中枢神经系统的慢性炎性脱髓鞘疾病,被认为具有T细胞介导的自身免疫病因。细胞毒性T淋巴细胞抗原4(CTLA-4)基因是参与自身免疫性疾病的有力候选基因,因为CTLA-4在T细胞激活的早期和晚期下调以及外周T细胞耐受性的维持中起重要作用。为了研究CTLA-4基因位点与MS的遗传关联,我们分析了下西里西亚地区102名无亲缘关系的波兰MS患者和101名年龄及性别匹配的健康受试者中CTLA-4基因外显子1的A(49)G多态性。MS患者与健康受试者之间CTLA-4外显子1 A(49)G基因型、表型和等位基因频率的分布没有差异。

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Lack of association between an exon 1 CTLA-4 gene polymorphism A(49)G and multiple sclerosis in a Polish population of the Lower Silesia region.下西里西亚地区波兰人群中,第1外显子CTLA-4基因多态性A(49)G与多发性硬化症之间不存在关联。
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