Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, 26504 Rio, Patras, Greece.
Biomed Res Int. 2013;2013:404053. doi: 10.1155/2013/404053. Epub 2013 Nov 5.
Myasthenia gravis (MG) is an autoimmune disease mediated by the presence of autoantibodies that bind to components of the neuromuscular junction, causing the symptoms of muscular weakness and fatigability. Like most autoimmune disorders, MG is a multifactorial, noninherited disease, though with an established genetic constituent. The heterogeneity observed in MG perplexes genetic analysis even more, as it occurs in various levels, including diverse autoantigens, thymus histopathology, and age at onset. In this context of distinct subgroups, a plethora of association studies, discussed in this review, have assessed the involvement of various HLA and non-HLA related loci in MG susceptibility, over the past five years. As expected, certain HLA alleles were strongly associated with MG. Many of the non-HLA genes, such as PTPN22 and CTLA-4, have been previously studied in MG and other autoimmune diseases and their association with MG has been reevaluated in more cohesive groups of patients. Moreover, novel risk or protective loci have been revealed, as in the case of TNIP1 and FOXP3. Although the majority of these results have been derived from candidate gene studies, the focal point of all recent genetic studies is the first genome-wide association study (GWAS) conducted on early-onset MG patients.
重症肌无力（MG）是一种自身免疫性疾病，由自身抗体与神经肌肉接头的成分结合引起，导致肌肉无力和易疲劳的症状。像大多数自身免疫性疾病一样，MG 是一种多因素的、非遗传性疾病，但有明确的遗传成分。MG 在各种水平上的异质性，包括不同的自身抗原、胸腺组织病理学和发病年龄，使得遗传分析更加复杂。在这种不同亚组的背景下，大量的关联研究，如本文所讨论的，评估了过去五年中各种 HLA 和非 HLA 相关基因座在 MG 易感性中的作用。如预期的那样，某些 HLA 等位基因与 MG 强烈相关。许多非 HLA 基因，如 PTPN22 和 CTLA-4，以前在 MG 和其他自身免疫性疾病中进行过研究，它们与 MG 的相关性在更具凝聚力的患者群体中得到了重新评估。此外，还揭示了新的风险或保护基因座，如 TNIP1 和 FOXP3。尽管这些结果大多数是从候选基因研究中得出的，但所有最近的遗传研究的重点是对早发性 MG 患者进行的首次全基因组关联研究（GWAS）。
