Department of Biological Sciences, Simon Fraser University, Burnaby, BC, Canada.
J Neuroimmunol. 2010 Aug 25;225(1-2):164-6. doi: 10.1016/j.jneuroim.2010.04.012. Epub 2010 May 15.
The restricted use of immunoglobulin heavy chain variable (IGHV) family 4 gene segments by clonally expanded B cells in brain lesions and cerebrospinal fluid (CSF) of multiple sclerosis (MS) patients is well documented. Specifically, the overrepresentation of gene IGHV4-39 has been highlighted in multiple studies. To investigate the role of IGHV4-39 in MS, we screened 193 MS cases, representing the extremes of clinical outcome (benign and malignant), and 187 controls for a previously reported germline deletion polymorphism containing IGHV4-39. We did not reveal a genetic association linking this polymorphism to MS risk or progression.
在多发性硬化症（MS）患者的脑部病变和脑脊液（CSF）中，克隆扩增的 B 细胞对免疫球蛋白重链可变（IGHV）家族 4 基因片段的限制使用已得到充分证实。具体而言，多个研究强调了基因 IGHV4-39 的过度表达。为了研究 IGHV4-39 在 MS 中的作用，我们筛选了 193 例 MS 病例，代表了临床结局的极端情况（良性和恶性），以及 187 例对照，以研究之前报道的含有 IGHV4-39 的种系缺失多态性。我们没有发现该多态性与 MS 风险或进展相关的遗传关联。
