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首页> 外文期刊>Journal of Neuroimmunology: Official Bulletin of the Research Committee on Neuroimmunology of the World Federation of Neurology >The CTLA4 +49 A/G*G-CT60*G haplotype is associated with susceptibility to multiple sclerosis in Flanders.
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The CTLA4 +49 A/G*G-CT60*G haplotype is associated with susceptibility to multiple sclerosis in Flanders.

机译：CTLA4 +49 A / G * G-CT60 * G单倍型与法兰德斯地区多发性硬化症的易感性相关。

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摘要

Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system white matter characterized by inflammation, demyelination and axonal damage. The cytotoxic T lymphocyte antigen-4 (CTLA-4) protein plays a key role in the down-regulation of T cell activation. We analysed the CTLA4 +49A/G and CT60 polymorphisms in a cohort of 120 MS trio families recruited from the Flanders region in Belgium. Both polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (RFLP). The +49 G-allele was significantly more transmitted to affected probands (P = 0.005). No transmission distortion was observed for the CT60 polymorphism. Haplotype analysis revealed significant overtransmission of the +49 A/G*G-CT60*G haplotype (P = 0.0025), and undertransmission of the +49 A/G*A-CT60*G haplotype (P = 0.015). The CTLA4 gene has been the focus of intense investigation in MS. Of 15 recently published papers, only six reported significant associations of various CTLA4 polymorphisms with MS, with the remainder being negative. Ours is the first report investigating the CT60 polymorphism in MS. Our data highlight a need for further scrutiny of the CTLA4 gene in MS.
机译：多发性硬化症（MS）是中枢神经系统白质的一种慢性自身免疫性疾病，其特征在于炎症，脱髓鞘和轴突损伤。细胞毒性T淋巴细胞抗原4（CTLA-4）蛋白在T细胞活化的下调中起关键作用。我们分析了从比利时佛兰德地区招募的120个MS三人家庭的CTLA4 + 49A / G和CT60多态性。通过聚合酶链反应-限制性片段长度多态性（RFLP）对两种多态性进行基因分型。 +49 G等位基因显着更多地传播给受影响的先证者（P = 0.005）。没有观察到CT60多态性的透射畸变。单倍型分析显示+49 A / G * G-CT60 * G单倍型显着过量传递（P = 0.0025），和+49 A / G * A-CT60 * G单倍型显着传递不足（P = 0.015）。 CTLA4基因一直是MS研究的重点。在最近发表的15篇论文中，只有6篇报道了各种CTLA4多态性与MS的显着关联，其余均为阴性。我们的报告是第一份研究MS中CT60多态性的报告。我们的数据表明需要进一步检查MS中的CTLA4基因。

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