The Core Laboratory in Medicine Center of Clinical Research, Department of Endocrinology, The Ninth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Liver Cancer Institute, Zhongshan Hospital, Fudan University, Shanghai, China.
Clin Genet. 2018 Jan;93(1):103-110. doi: 10.1111/cge.13072. Epub 2017 Oct 9.
Graves' disease (GD) is a complex autoimmune disorder in which genetic and environmental factors are both involved in the pathogenesis. Early-onset patients have a shorter exposure time to environmental factors and are, therefore, good models to help understand the genetic architecture of GD. Based on previous studies of early-onset GD, 11 single nucleotide polymorphisms (SNPs) and their related SNPs (R > .6), SNPs located within a ±1-Mb region of the FOXP3 gene, and 20 validated GD-risk SNPs were selected and screened for genotyping in 3735 GD and 4893 control patients to investigate whether early-onset GD is a subtype of GD with distinct susceptibility genes. Ultimately, we did not confirm the reported genetic markers of early-onset GD in our Chinese Han population but found that a GD-risk SNP located in the human leukocyte antigen class I region-rs4947296-was more strongly correlated with early-onset GD than non-early-onset GD. In addition, heterogeneity analysis of GD patients suggests that it may be more reasonable to define early-onset GD as an onset age ≤20 years.
格雷夫斯病（GD）是一种复杂的自身免疫性疾病，其发病机制涉及遗传和环境因素。早发型患者接触环境因素的时间较短，因此是帮助理解 GD 遗传结构的良好模型。基于对早发型 GD 的先前研究，选择了 11 个单核苷酸多态性（SNP）及其相关 SNP（R > .6）、FOXP3 基因 ±1-Mb 区域内的 SNP 以及 20 个已验证的 GD 风险 SNP，并对 3735 例 GD 患者和 4893 例对照患者进行基因分型，以研究早发型 GD 是否为具有不同易感基因的 GD 亚型。最终，我们在中国汉族人群中并未证实早发型 GD 的报道遗传标记，但发现位于人类白细胞抗原 I 类区域的 GD 风险 SNP（rs4947296）与早发型 GD 的相关性强于非早发型 GD。此外，GD 患者的异质性分析表明，将早发型 GD 定义为发病年龄≤20 岁可能更为合理。
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