Genome-wide Association Study of Myasthenia Gravis. Homo sapiens

The purpose of this project was to conduct a genome-wide associate study to search for the genetic factors that predispose to myasthenia gravis. The rationale for this study lies in the fact that, although the immunological and physiological processes affecting the neuromuscular junctions of myasthenia gravis patients are well understood, the spectrum of genetic factors that predispose to myasthenia gravis and influence its disease manifestations are not well known. Identification of the myasthenia gravis-related genes will shed light on the fundamental cellular events underlying myasthenia gravis, and will provide focus for research aimed at developing therapies that alter the natural course of the disease. A consortium of fourteen institutions in North America collected DNA samples from approximately 1,100 people diagnosed with autoimmune myasthenia gravis. Relevant clinical data have been collected for each patient, including age of onset, severity... (for more see dbGaP study page.)

本研究旨在开展全基因组关联研究（genome-wide association study），探寻重症肌无力（myasthenia gravis）的易感遗传因素。本研究的理论依据在于，尽管学界已明确重症肌无力患者神经肌肉接头处的免疫与生理过程，但目前对于重症肌无力的易感遗传因素及其对疾病表型的影响谱仍知之甚少。鉴定与重症肌无力相关的基因，既可阐明该疾病背后的核心细胞事件，也可为开发能够改变疾病自然进程的治疗手段提供研究方向。北美14家机构组成的研究联盟，从约1100名确诊为自身免疫性重症肌无力（autoimmune myasthenia gravis）的患者中采集了DNA样本。研究团队为每位患者收集了相关临床数据，包括发病年龄、病情严重程度……（更多详情请参见dbGaP研究页面）