Genetic study of early-onset Graves' disease in the Chinese Han population
Genetic study of early-onset Graves' disease in the Chinese Han population
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中国汉族人群早发格雷夫斯病的遗传学研究
DOI：
10.1111/cge.13072
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发表时间：
2018
影响因子：
3.5
通讯作者：
Song H. -D.
中科院分区：
文献类型：
--
作者：
Yuan F. -F.;Ye X. -P.;Liu W.;Xue L. -Q.;Ma Y. -R.;Zhang L. -L.;Zhang M. -M.;Sun F.;Wan Y. -Y.;Zhang Q. -Y.;Zhao S. -X.;Song H. -D.
Graves病（GD）是一种复杂的自身免疫性疾病，其发病机制与遗传和环境因素有关。早发性患者暴露于环境因素的时间较短，因此是帮助了解GD遗传结构的良好模型。基于先前早发性GD的研究，选择11个单核苷酸多态性（SNP）及其相关SNP（R2> .6），位于FOXP 3基因±1-Mb区域内的SNP，以及20个经验证的GD风险SNP，并在3735例GD和4893例对照患者中进行基因分型，以研究早发性GD是否是具有不同易感基因的GD亚型。最终，我们没有证实中国汉族人群中报告的早发性GD的遗传标志物，但发现位于人类白细胞抗原I类区域的GD风险SNP-rs 4947296-与早发性GD的相关性比非早发性GD更强。此外，GD患者的异质性分析表明，将早发性GD定义为发病年龄≤20岁可能更合理。
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 (R2> .6), SNPs located within a ±1‐Mb region of theFOXP3gene, 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.