Graves眼病致病基因研究现状

Current Research on the Pathogenic Genes of Graves Disease

摘要: Graves眼病是Graves病中最常见的甲状腺腺外表现之一，主要表现为眼球突出、眼睑水肿退缩和眼眶周围组织红斑等症状。如果不及时治疗，病情会进一步恶化，可能会影响患者的视力，甚至导致失明。Graves眼病的发病机制尚未完全明确，受众多因素共同作用，但基因是其中主要的影响因素之一。目前认为，Graves眼病是由多个基因共同调控的，不同的基因可能引起相同的病症表现(基因多态性)，而同一个基因也可能引起不同的病症表现(基因多效性)。有些人携带突变基因却没有出现相应的病症(不完全表型)，而另一些人没有Graves眼病，但却有不同的基因突变(多基因遗传)。Graves眼病的发生是由不同的基因与基因、基因与环境相互作用引起的。Graves眼病相关的基因的研究方法有基因谱扫描、候选基因技术和连锁分析等。Graves眼病相关的基因已经发现了多个。下面是关于Graves眼病相关基因的概述。

Abstract: Graves ophthalmopathy is one of the most common extra thyroid manifestations in Graves’ disease. Symptoms include eyeball protrusion, eyelid edema, eyelid retreat and erythema of periorbital tissue. If left untreated, the disease can progress which may affect the patient’s vision and even lead to blindness. The pathogenesis of Graves ophthalmopathy is still unknown. For Graves ophthalmopathy, many factors work together, but genes are one of the main influencing factors. At present, it is believed that Graves eye disease is regulated by multiple genes. Different genes may cause the same disease (gene polymorphism), while the same gene may also cause different manifestations of the disease (gene pleiotropy). Some people carry the mutated gene without developing the corresponding disorder (incomplete phenotype), while others do not have Graves eye disease, but with a different genetic mutation (polygenic inheritance). Graves eye disease is caused by the interaction of different genes with genes and genes with the environment. The research methods on genes related to Graves eye disease include gene profile scanning, candidate gene technique and linkage analysis. Graves eye disease associated genes have been found several. The following is an overview of the genes associated with Graves eye disease.