CD24丙氨酸/缬氨酸多态性与多发性硬化症。

CD24 Ala/Val polymorphism and multiple sclerosis.

作者信息

Goris An, Maranian Melanie, Walton Amie, Yeo Tai Wai, Ban Maria, Gray Julia, Dubois Bénédicte, Compston Alastair, Sawcer Stephen

机构信息

Department of Clinical Neurosciences, Neurology Unit, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

出版信息

J Neuroimmunol. 2006 Jun;175(1-2):200-2. doi: 10.1016/j.jneuroim.2006.03.009. Epub 2006 May 2.

DOI:10.1016/j.jneuroim.2006.03.009

PMID:16631259

Abstract

CD24 is expressed on a broad range of cells in the immune and central nervous systems and appears to be required for development of experimental autoimmune encephalomyelitis in mice. Association of a CD24 Ala/Val coding polymorphism with susceptibility to and progression of multiple sclerosis was recently reported. We typed this coding polymorphism in a combined cohort of 1,180 cases and 1,168 unrelated and family-based controls from Belgium and the UK, but were unable to confirm either association. Since the CD24 gene is part of a segmental duplication, special care is required for the identification and genotyping of single nucleotide polymorphisms.

摘要

CD24在免疫和中枢神经系统的多种细胞上表达，似乎是小鼠实验性自身免疫性脑脊髓炎发展所必需的。最近有报道称，CD24 Ala/Val编码多态性与多发性硬化症的易感性和病情进展有关。我们在来自比利时和英国的1180例病例以及1168名无亲缘关系和基于家庭的对照组成的联合队列中对这种编码多态性进行了分型，但无法证实这两种关联。由于CD24基因是片段重复的一部分，因此在单核苷酸多态性的鉴定和基因分型时需要格外小心。