Zhao Xiaoyan, Gharizadeh Baback, Hjelmström Peter, Pirskanen Ritva, Nyrén Pål, Lefvert Ann-Kari, Ghaderi Mehran
Department of Medicine, Immunological Research Unit, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Int J Mol Med. 2003 Nov;12(5):749-53.
The aim of this study was to examine the association of human autoimmune myasthenia gravis (MG) with two DNA polymorphisms of the chemokine receptors CCR5-Delta 32 and CCR2-64I. CCR2 and CCR5 interact primarily with the human CC family ligands CCL2 (formerly called monocyte chemoattractant protein; MCP-1), CCL3 and CCL4 (macrophage inflammatory protein-1 alpha and -1 beta; MIP-1 alpha/beta), and their main function is to recruit leukocytes from circulation into the tissues, thus playing an important role in human inflammatory disorders. A PCR-based genotyping method was used to determine the genetic variation at the CCR5 gene and an automated real-time Pyrosequencing technology was employed for the analysis of G right curved arrow A point mutation at the CCR2 gene. Results obtained from 158 patients and 272 healthy controls demonstrate no evidence of association between genetic variants of CCR2 and CCR5 with MG and its clinical manifestations. CCR2-64I and CCR5-Delta 32 genotypes are thus unlikely to be involved in protection or predisposition to MG.
本研究旨在探讨人类自身免疫性重症肌无力（MG）与趋化因子受体CCR5 - Delta 32和CCR2 - 64I的两种DNA多态性之间的关联。CCR2和CCR5主要与人类CC家族配体CCL2（以前称为单核细胞趋化蛋白；MCP - 1）、CCL3和CCL4（巨噬细胞炎性蛋白 - 1α和 - 1β；MIP - 1α/β）相互作用，其主要功能是将循环中的白细胞募集到组织中，因此在人类炎症性疾病中发挥重要作用。采用基于聚合酶链反应（PCR）的基因分型方法来确定CCR5基因的遗传变异，并使用自动实时焦磷酸测序技术分析CCR2基因的G右弯箭头A点突变。从158例患者和272例健康对照获得的结果表明，CCR2和CCR5的基因变异与MG及其临床表现之间没有关联证据。因此，CCR2 - 64I和CCR5 - Delta 32基因型不太可能参与MG的保护或易感性。
